{
  "data": {
    "entContent": {
      "approvedOn": "2021-12-31T00:00:00.000Z",
      "description": "",
      "hideFlag": true,
      "legacy": true,
      "legacyReplaced": true,
      "namespace": "GN016",
      "releaseNotes": "Modifications to PP3 and BP4 (in silico prediction criteria) that affect splice site prediction, including thresholds to use for splice site prediction in silico tools.",
      "shortTitle": "Rett and Angelman-like Disorders Variant Interpretation Guidelines",
      "specificationSource": "https://clinicalgenome.org/site/assets/files/7339/clingen_rettas_acmg_specifications_v2.pdf",
      "states": [
        {
          "current": true,
          "event": {
            "name": "cspec-released",
            "prevState": "Approved For Release",
            "timeStamp": "2021-12-31T00:00:00.000Z"
          },
          "name": "Released"
        }
      ],
      "tagNameSpaces": [
        "016"
      ],
      "title": "ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2",
      "version": "2.0.0",
      "versioned": true
    },
    "entId": "GN016",
    "entType": "SequenceVariantInterpretation",
    "ld": {
      "Gene": [
        {
          "entContent": {
            "HGNC": {
              "_version_": 1704056947152519200,
              "agr": "HGNC:23287",
              "alias_symbol": [
                "YF13H12",
                "HSCO"
              ],
              "ccds_id": [
                "CCDS12622"
              ],
              "date_approved_reserved": "2003-12-15",
              "date_modified": "2021-05-26",
              "date_name_changed": "2019-01-22",
              "ensembl_gene_id": "ENSG00000105755",
              "entrez_id": "23474",
              "enzyme_id": [
                "1.13.11.18"
              ],
              "hgnc_id": "HGNC:23287",
              "location": "19q13.31",
              "location_sortable": "19q13.31",
              "locus_group": "protein-coding gene",
              "locus_type": "gene with protein product",
              "mane_select": [
                "ENST00000292147.7",
                "NM_014297.5"
              ],
              "mgd_id": [
                "MGI:1913321"
              ],
              "name": "ETHE1 persulfide dioxygenase",
              "omim_id": [
                "608451"
              ],
              "orphanet": 121629,
              "prev_name": [
                "ethylmalonic encephalopathy 1"
              ],
              "pubmed_id": [
                19136963
              ],
              "refseq_accession": [
                "NM_014297"
              ],
              "rgd_id": [
                "RGD:1311034"
              ],
              "status": "Approved",
              "symbol": "ETHE1",
              "symbol_report_tag": [
                "Stable symbol"
              ],
              "ucsc_id": "uc002owp.3",
              "uniprot_ids": [
                "O95571"
              ],
              "uuid": "636414c2-a027-4641-9152-9eda9a4a0faa",
              "vega_id": "OTTHUMG00000182697"
            },
            "NCBI": {
              "id": "23474"
            }
          },
          "entId": "ETHE1",
          "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23287",
          "entType": "Gene",
          "ldhId": "135641936",
          "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641936",
          "modified": "2021-10-14T11:36:27.781Z",
          "modifier": "genbadmin",
          "rev": "_inf5A8---_"
        },
        {
          "entContent": {
            "HGNC": {
              "_version_": 1704056957250306000,
              "agr": "HGNC:8806",
              "alias_name": [
                "pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial"
              ],
              "ccds_id": [
                "CCDS14192",
                "CCDS55382",
                "CCDS55381",
                "CCDS55380"
              ],
              "date_approved_reserved": "1989-06-30",
              "date_modified": "2020-04-02",
              "date_name_changed": "2019-11-26",
              "ensembl_gene_id": "ENSG00000131828",
              "entrez_id": "5160",
              "enzyme_id": [
                "1.2.4.1"
              ],
              "gene_group": [
                "Pyruvate dehydrogenase complex"
              ],
              "gene_group_id": [
                1547
              ],
              "hgnc_id": "HGNC:8806",
              "location": "Xp22.12",
              "location_sortable": "Xp22.12",
              "locus_group": "protein-coding gene",
              "locus_type": "gene with protein product",
              "lsdb": [
                "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PDHA1"
              ],
              "mane_select": [
                "ENST00000422285.7",
                "NM_000284.4"
              ],
              "mgd_id": [
                "MGI:97532"
              ],
              "name": "pyruvate dehydrogenase E1 subunit alpha 1",
              "omim_id": [
                "300502"
              ],
              "orphanet": 124161,
              "prev_name": [
                "pyruvate dehydrogenase (lipoamide) alpha 1",
                "pyruvate dehydrogenase alpha 1"
              ],
              "prev_symbol": [
                "PDHA"
              ],
              "refseq_accession": [
                "NM_000284"
              ],
              "rgd_id": [
                "RGD:3286"
              ],
              "status": "Approved",
              "symbol": "PDHA1",
              "ucsc_id": "uc011mjc.3",
              "uniprot_ids": [
                "P08559"
              ],
              "uuid": "49150386-c42a-4826-bf0d-e7cb29bd23fd",
              "vega_id": "OTTHUMG00000021224"
            },
            "NCBI": {
              "id": "5160"
            }
          },
          "entId": "PDHA1",
          "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8806",
          "entType": "Gene",
          "ldhId": "135641935",
          "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641935",
          "modified": "2021-10-14T11:36:27.781Z",
          "modifier": "genbadmin",
          "rev": "_inf5A8---E"
        },
        {
          "entContent": {
            "HGNC": {
              "_version_": 1704056957870014500,
              "agr": "HGNC:9179",
              "alias_symbol": [
                "POLG1",
                "POLGA"
              ],
              "ccds_id": [
                "CCDS10350"
              ],
              "curator_notes": [
                "[Khan et al](https://www.ncbi.nlm.nih.gov/pubmed/32138667) reports that this complex locus also contains a second alternate reading frame"
              ],
              "date_approved_reserved": "1992-02-06",
              "date_modified": "2021-04-13",
              "date_name_changed": "2016-07-11",
              "ena": [
                "X98093"
              ],
              "ensembl_gene_id": "ENSG00000140521",
              "entrez_id": "5428",
              "gene_group": [
                "DNA polymerases",
                "MicroRNA protein coding host genes"
              ],
              "gene_group_id": [
                535,
                1691
              ],
              "hgnc_id": "HGNC:9179",
              "location": "15q26.1",
              "location_sortable": "15q26.1",
              "locus_group": "protein-coding gene",
              "locus_type": "gene with protein product",
              "lsdb": [
                "LRG_765|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_765.xml"
              ],
              "mane_select": [
                "ENST00000268124.11",
                "NM_002693.3"
              ],
              "mgd_id": [
                "MGI:1196389"
              ],
              "name": "DNA polymerase gamma, catalytic subunit",
              "omim_id": [
                "174763"
              ],
              "orphanet": 117925,
              "prev_name": [
                "polymerase (DNA directed), gamma",
                "polymerase (DNA) gamma, catalytic subunit"
              ],
              "pubmed_id": [
                9465903,
                32138667
              ],
              "refseq_accession": [
                "NM_002693"
              ],
              "rgd_id": [
                "RGD:620057"
              ],
              "status": "Approved",
              "symbol": "POLG",
              "ucsc_id": "uc002bns.5",
              "uniprot_ids": [
                "P54098"
              ],
              "uuid": "3d221088-ac02-4bc9-98bf-3f9d97e8d9c9",
              "vega_id": "OTTHUMG00000149646"
            },
            "NCBI": {
              "id": "5428"
            }
          },
          "entId": "POLG",
          "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9179",
          "entType": "Gene",
          "ldhId": "135641934",
          "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641934",
          "modified": "2021-10-14T11:36:27.781Z",
          "modifier": "genbadmin",
          "rev": "_inf5A8S--F"
        },
        {
          "entContent": {
            "HGNC": {
              "_version_": 1704056944354918400,
              "agr": "HGNC:11411",
              "alias_symbol": [
                "EIEE2",
                "CFAP247"
              ],
              "ccds_id": [
                "CCDS14186",
                "CCDS83458"
              ],
              "date_approved_reserved": "1997-10-27",
              "date_modified": "2021-05-26",
              "date_name_changed": "2016-01-07",
              "date_symbol_changed": "2002-11-29",
              "ena": [
                "Y15057"
              ],
              "ensembl_gene_id": "ENSG00000008086",
              "entrez_id": "6792",
              "gene_group": [
                "Cyclin dependent kinases",
                "Cilia and flagella associated"
              ],
              "gene_group_id": [
                496,
                1491
              ],
              "hgnc_id": "HGNC:11411",
              "iuphar": "objectId:1986",
              "location": "Xp22.13",
              "location_sortable": "Xp22.13",
              "locus_group": "protein-coding gene",
              "locus_type": "gene with protein product",
              "lsdb": [
                "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CDKL5"
              ],
              "mane_select": [
                "ENST00000623535.2",
                "NM_001323289.2"
              ],
              "mgd_id": [
                "MGI:1278336"
              ],
              "name": "cyclin dependent kinase like 5",
              "omim_id": [
                "300203"
              ],
              "orphanet": 119297,
              "prev_name": [
                "serine/threonine kinase 9",
                "cyclin-dependent kinase-like 5"
              ],
              "prev_symbol": [
                "STK9"
              ],
              "pubmed_id": [
                9721213,
                16935860
              ],
              "refseq_accession": [
                "NM_003159"
              ],
              "rgd_id": [
                "RGD:2324133"
              ],
              "status": "Approved",
              "symbol": "CDKL5",
              "symbol_report_tag": [
                "Stable symbol"
              ],
              "ucsc_id": "uc004cyn.4",
              "uniprot_ids": [
                "O76039"
              ],
              "uuid": "e2ddada8-4549-4565-aacb-21ae135a19ab",
              "vega_id": "OTTHUMG00000021214"
            },
            "NCBI": {
              "id": "6792"
            }
          },
          "entId": "CDKL5",
          "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11411",
          "entType": "Gene",
          "ldhId": "135641943",
          "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641943",
          "modified": "2021-10-14T11:36:27.781Z",
          "modifier": "genbadmin",
          "rev": "_inf5A8----"
        },
        {
          "entContent": {
            "HGNC": {
              "_version_": 1704056963049980000,
              "agr": "HGNC:11079",
              "alias_symbol": [
                "NHE6",
                "KIAA0267"
              ],
              "bioparadigms_slc": "SLC9A6",
              "ccds_id": [
                "CCDS55504",
                "CCDS44003",
                "CCDS83492",
                "CCDS14654"
              ],
              "date_approved_reserved": "1999-07-30",
              "date_modified": "2020-04-02",
              "date_name_changed": "2016-02-25",
              "ena": [
                "AF030409"
              ],
              "ensembl_gene_id": "ENSG00000198689",
              "entrez_id": "10479",
              "gene_group": [
                "Solute carriers"
              ],
              "gene_group_id": [
                752
              ],
              "hgnc_id": "HGNC:11079",
              "iuphar": "objectId:953",
              "location": "Xq26.3",
              "location_sortable": "Xq26.3",
              "locus_group": "protein-coding gene",
              "locus_type": "gene with protein product",
              "lsdb": [
                "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC9A6"
              ],
              "mane_select": [
                "ENST00000630721.3",
                "NM_001379110.1"
              ],
              "mgd_id": [
                "MGI:2443511"
              ],
              "name": "solute carrier family 9 member A6",
              "omim_id": [
                "300231"
              ],
              "orphanet": 158415,
              "prev_name": [
                "solute carrier family 9 (sodium/hydrogen exchanger), isoform 6",
                "solute carrier family 9 (sodium/hydrogen exchanger), member 6",
                "solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6"
              ],
              "pubmed_id": [
                9507001
              ],
              "refseq_accession": [
                "NM_006359"
              ],
              "rgd_id": [
                "RGD:1563582"
              ],
              "status": "Approved",
              "symbol": "SLC9A6",
              "ucsc_id": "uc004ezk.4",
              "uniprot_ids": [
                "Q92581"
              ],
              "uuid": "b6c70e29-8831-4056-bece-f6ea1bebac3c",
              "vega_id": "OTTHUMG00000022498"
            },
            "NCBI": {
              "id": "10479"
            }
          },
          "entId": "SLC9A6",
          "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11079",
          "entType": "Gene",
          "ldhId": "135641940",
          "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641940",
          "modified": "2021-10-14T11:36:27.781Z",
          "modifier": "genbadmin",
          "rev": "_inf5A8S--C"
        },
        {
          "entContent": {
            "HGNC": {
              "_version_": 1704056966728384500,
              "agr": "HGNC:12496",
              "alias_name": [
                "Angelman syndrome"
              ],
              "alias_symbol": [
                "AS",
                "ANCR",
                "E6-AP",
                "FLJ26981"
              ],
              "ccds_id": [
                "CCDS45192",
                "CCDS86436",
                "CCDS32177",
                "CCDS45191"
              ],
              "date_approved_reserved": "1993-10-21",
              "date_modified": "2021-05-26",
              "date_name_changed": "2008-07-31",
              "ena": [
                "AF002224"
              ],
              "ensembl_gene_id": "ENSG00000114062",
              "entrez_id": "7337",
              "enzyme_id": [
                "2.3.2.26"
              ],
              "gene_group": [
                "HECT domain containing"
              ],
              "gene_group_id": [
                1959
              ],
              "hgnc_id": "HGNC:12496",
              "location": "15q11.2",
              "location_sortable": "15q11.2",
              "locus_group": "protein-coding gene",
              "locus_type": "gene with protein product",
              "lsdb": [
                "NGRL, Manchester LOVD|http://ngrl.manchester.ac.uk/LOVDv.2.0/home.php?select_db=UBE3A",
                "LRG_15|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_15.xml"
              ],
              "mane_select": [
                "ENST00000648336.2",
                "NM_130839.5"
              ],
              "mgd_id": [
                "MGI:105098"
              ],
              "name": "ubiquitin protein ligase E3A",
              "omim_id": [
                "601623"
              ],
              "orphanet": 120365,
              "prev_name": [
                "human papilloma virus E6-associated protein"
              ],
              "prev_symbol": [
                "EPVE6AP",
                "HPVE6A"
              ],
              "pubmed_id": [
                8221889
              ],
              "refseq_accession": [
                "NM_000462"
              ],
              "rgd_id": [
                "RGD:1306361"
              ],
              "status": "Approved",
              "symbol": "UBE3A",
              "symbol_report_tag": [
                "Stable symbol"
              ],
              "ucsc_id": "uc059gvn.1",
              "uniprot_ids": [
                "Q05086"
              ],
              "uuid": "dce8245d-bf9e-41fa-b4f2-e2a570703193",
              "vega_id": "OTTHUMG00000171548"
            },
            "NCBI": {
              "id": "7337"
            }
          },
          "entId": "UBE3A",
          "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12496",
          "entType": "Gene",
          "ldhId": "135641941",
          "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641941",
          "modified": "2021-10-14T11:36:27.781Z",
          "modifier": "genbadmin",
          "rev": "_inf5A8---H"
        },
        {
          "entContent": {
            "HGNC": {
              "_version_": 1704056953001476000,
              "agr": "HGNC:6990",
              "ccds_id": [
                "CCDS14741",
                "CCDS48193"
              ],
              "date_approved_reserved": "1996-09-03",
              "date_modified": "2021-05-26",
              "date_name_changed": "2015-11-13",
              "ena": [
                "AF158180"
              ],
              "ensembl_gene_id": "ENSG00000169057",
              "entrez_id": "4204",
              "gene_group": [
                "Methyl-CpG binding domain containing"
              ],
              "gene_group_id": [
                1025
              ],
              "hgnc_id": "HGNC:6990",
              "location": "Xq28",
              "location_sortable": "Xq28",
              "locus_group": "protein-coding gene",
              "locus_type": "gene with protein product",
              "lsdb": [
                "RettBASE|http://mecp2.chw.edu.au/",
                "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MECP2",
                "LRG_764|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_764.xml"
              ],
              "mane_select": [
                "ENST00000453960.7",
                "NM_001110792.2"
              ],
              "mgd_id": [
                "MGI:99918"
              ],
              "name": "methyl-CpG binding protein 2",
              "omim_id": [
                "300005"
              ],
              "orphanet": 123186,
              "prev_name": [
                "mental retardation, X-linked 16",
                "mental retardation, X-linked 79",
                "Rett syndrome",
                "methyl CpG binding protein 2 (Rett syndrome)",
                "methyl CpG binding protein 2"
              ],
              "prev_symbol": [
                "RTT",
                "MRX16",
                "MRX79"
              ],
              "pubmed_id": [
                1606614,
                10508514
              ],
              "refseq_accession": [
                "NM_004992"
              ],
              "rgd_id": [
                "RGD:3075"
              ],
              "status": "Approved",
              "symbol": "MECP2",
              "symbol_report_tag": [
                "Stable symbol"
              ],
              "ucsc_id": "uc004fjv.3",
              "uniprot_ids": [
                "P51608"
              ],
              "uuid": "c911c5cc-315e-4631-bcdd-8627c7cc337c",
              "vega_id": "OTTHUMG00000024229"
            },
            "NCBI": {
              "id": "4202"
            }
          },
          "entId": "MECP2",
          "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6990",
          "entType": "Gene",
          "ldhId": "135641938",
          "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641938",
          "modified": "2021-10-14T11:36:27.781Z",
          "modifier": "genbadmin",
          "rev": "_inf5A8---B"
        },
        {
          "entContent": {
            "HGNC": {
              "_version_": 1704056964794810400,
              "agr": "HGNC:11634",
              "alias_name": [
                "SL3-3 enhancer factor 2",
                "class B basic helix-loop-helix protein 19",
                "immunoglobulin transcription factor 2"
              ],
              "alias_symbol": [
                "SEF2-1B",
                "ITF2",
                "bHLHb19",
                "E2-2"
              ],
              "ccds_id": [
                "CCDS86672",
                "CCDS77192",
                "CCDS42438",
                "CCDS58623",
                "CCDS58624",
                "CCDS58625",
                "CCDS58626",
                "CCDS58627",
                "CCDS58628",
                "CCDS82257",
                "CCDS82255",
                "CCDS77191",
                "CCDS58629",
                "CCDS58630",
                "CCDS58631",
                "CCDS59321",
                "CCDS11960",
                "CCDS86671"
              ],
              "date_approved_reserved": "1990-10-16",
              "date_modified": "2020-04-02",
              "ena": [
                "M74719"
              ],
              "ensembl_gene_id": "ENSG00000196628",
              "entrez_id": "6925",
              "gene_group": [
                "Basic helix-loop-helix proteins"
              ],
              "gene_group_id": [
                420
              ],
              "hgnc_id": "HGNC:11634",
              "location": "18q21.2",
              "location_sortable": "18q21.2",
              "locus_group": "protein-coding gene",
              "locus_type": "gene with protein product",
              "lsdb": [
                "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TCF4"
              ],
              "mane_select": [
                "ENST00000354452.8",
                "NM_001083962.2"
              ],
              "mgd_id": [
                "MGI:98506"
              ],
              "name": "transcription factor 4",
              "omim_id": [
                "602272"
              ],
              "orphanet": 158595,
              "pubmed_id": [
                9302263,
                2308860
              ],
              "refseq_accession": [
                "NM_003199"
              ],
              "rgd_id": [
                "RGD:69271"
              ],
              "status": "Approved",
              "symbol": "TCF4",
              "ucsc_id": "uc002lfz.3",
              "uniprot_ids": [
                "P15884"
              ],
              "uuid": "31116aa1-aa61-42da-bb3d-7f6f2325744d",
              "vega_id": "OTTHUMG00000132713"
            },
            "NCBI": {
              "id": "6925"
            }
          },
          "entId": "TCF4",
          "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11634",
          "entType": "Gene",
          "ldhId": "135641942",
          "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641942",
          "modified": "2021-10-14T11:36:27.781Z",
          "modifier": "genbadmin",
          "rev": "_inf5A8---F"
        },
        {
          "entContent": {
            "HGNC": {
              "_version_": 1704056947891765200,
              "agr": "HGNC:3811",
              "alias_name": [
                "brain factor 1"
              ],
              "alias_symbol": [
                "HFK2",
                "QIN",
                "BF1",
                "HFK1",
                "HFK3",
                "HBF-3"
              ],
              "ccds_id": [
                "CCDS9636"
              ],
              "date_approved_reserved": "1994-12-07",
              "date_modified": "2021-05-26",
              "date_name_changed": "2007-05-16",
              "date_symbol_changed": "2007-05-16",
              "ensembl_gene_id": "ENSG00000176165",
              "entrez_id": "2290",
              "gene_group": [
                "Forkhead boxes"
              ],
              "gene_group_id": [
                508
              ],
              "hgnc_id": "HGNC:3811",
              "location": "14q12",
              "location_sortable": "14q12",
              "locus_group": "protein-coding gene",
              "locus_type": "gene with protein product",
              "mane_select": [
                "ENST00000313071.7",
                "NM_005249.5"
              ],
              "mgd_id": [
                "MGI:1347464"
              ],
              "name": "forkhead box G1",
              "omim_id": [
                "164874"
              ],
              "orphanet": 167854,
              "prev_name": [
                "forkhead box G1B",
                "forkhead box G1C",
                "forkhead box G1A"
              ],
              "prev_symbol": [
                "FKHL2",
                "FOXG1B",
                "FKHL4",
                "FKH2",
                "FKHL1",
                "FOXG1C",
                "FKHL3",
                "FOXG1A"
              ],
              "pubmed_id": [
                7959731,
                17260156
              ],
              "refseq_accession": [
                "NM_005249"
              ],
              "rgd_id": [
                "RGD:2619"
              ],
              "status": "Approved",
              "symbol": "FOXG1",
              "symbol_report_tag": [
                "Stable symbol"
              ],
              "ucsc_id": "uc001wqe.5",
              "uniprot_ids": [
                "P55316"
              ],
              "uuid": "14559109-ad8e-40f8-bf17-ebb1f1e0bd99",
              "vega_id": "OTTHUMG00000140187"
            },
            "NCBI": {
              "id": "2290"
            }
          },
          "entId": "FOXG1",
          "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3811",
          "entType": "Gene",
          "ldhId": "135641939",
          "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641939",
          "modified": "2021-10-14T11:36:27.781Z",
          "modifier": "genbadmin",
          "rev": "_inf5A8---A"
        },
        {
          "entContent": {
            "HGNC": {
              "_version_": 1704056963120234500,
              "agr": "HGNC:16266",
              "alias_name": [
                "thiamine transporter 2"
              ],
              "alias_symbol": [
                "THTR2"
              ],
              "bioparadigms_slc": "SLC19A3",
              "ccds_id": [
                "CCDS2468"
              ],
              "date_approved_reserved": "2001-07-19",
              "date_modified": "2017-04-20",
              "date_name_changed": "2016-02-17",
              "ena": [
                "AF271633"
              ],
              "ensembl_gene_id": "ENSG00000135917",
              "entrez_id": "80704",
              "gene_group": [
                "Solute carriers"
              ],
              "gene_group_id": [
                752
              ],
              "hgnc_id": "HGNC:16266",
              "iuphar": "objectId:1016",
              "location": "2q36.3",
              "location_sortable": "02q36.3",
              "locus_group": "protein-coding gene",
              "locus_type": "gene with protein product",
              "mane_select": [
                "ENST00000644224.2",
                "NM_025243.4"
              ],
              "mgd_id": [
                "MGI:1931307"
              ],
              "name": "solute carrier family 19 member 3",
              "omim_id": [
                "606152"
              ],
              "orphanet": 118766,
              "prev_name": [
                "solute carrier family 19, member 3",
                "solute carrier family 19 (thiamine transporter), member 3"
              ],
              "pubmed_id": [
                11136550,
                15871139
              ],
              "refseq_accession": [
                "NM_025243"
              ],
              "rgd_id": [
                "RGD:1311413"
              ],
              "status": "Approved",
              "symbol": "SLC19A3",
              "ucsc_id": "uc002vpi.4",
              "uniprot_ids": [
                "Q9BZV2"
              ],
              "uuid": "560fc138-355e-419a-9050-d523d75f502b",
              "vega_id": "OTTHUMG00000133185"
            },
            "NCBI": {
              "id": "80704"
            }
          },
          "entId": "SLC19A3",
          "entIri": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16266",
          "entType": "Gene",
          "ldhId": "135641937",
          "ldhIri": "https://cspec.genome.network/cspec/Gene/id/135641937",
          "modified": "2021-10-14T11:36:27.781Z",
          "modifier": "genbadmin",
          "rev": "_inf5A8---E"
        }
      ],
      "RuleSet": [
        {
          "entContent": {
            "_uniqueProp": "016_nuclear_UBE3A",
            "geneType": "nuclear",
            "genes": [
              {
                "diseases": [
                  {
                    "preferredMondoId": "MONDO:0007113",
                    "preferredTitle": "Angelman syndrome"
                  }
                ],
                "gene": "UBE3A",
                "preferredTranscript": "NM_130838.2"
              }
            ],
            "ns": "016"
          },
          "entType": "RuleSet",
          "ldhId": "135641463",
          "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135641463",
          "modified": "2023-01-27T21:39:11.248Z",
          "modifier": "cspecAdministrator",
          "rev": "_inf5BHW--O"
        },
        {
          "entContent": {
            "_uniqueProp": "016_nuclear_TCF4",
            "geneType": "nuclear",
            "genes": [
              {
                "diseases": [
                  {
                    "preferredMondoId": "MONDO:0012589",
                    "preferredTitle": "Pitt-Hopkins syndrome"
                  }
                ],
                "gene": "TCF4",
                "preferredTranscript": "NM_001083962.1"
              }
            ],
            "ns": "016"
          },
          "entType": "RuleSet",
          "ldhId": "135641462",
          "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135641462",
          "modified": "2023-01-27T21:39:11.248Z",
          "modifier": "cspecAdministrator",
          "rev": "_inf5BHa--U"
        },
        {
          "entContent": {
            "_uniqueProp": "016_nuclear_MECP2",
            "geneType": "nuclear",
            "genes": [
              {
                "diseases": [
                  {
                    "preferredMondoId": "MONDO:0010726",
                    "preferredTitle": "Rett syndrome"
                  }
                ],
                "gene": "MECP2",
                "preferredTranscript": "NM_004992.3"
              }
            ],
            "ns": "016"
          },
          "entType": "RuleSet",
          "ldhId": "135641460",
          "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135641460",
          "modified": "2023-01-27T21:39:11.248Z",
          "modifier": "cspecAdministrator",
          "rev": "_inf5BHW--J"
        },
        {
          "entContent": {
            "_uniqueProp": "016_nuclear_FOXG1",
            "geneType": "nuclear",
            "genes": [
              {
                "diseases": [
                  {
                    "preferredMondoId": "MONDO:0100040",
                    "preferredTitle": "FOXG1 disorder"
                  }
                ],
                "gene": "FOXG1",
                "preferredTranscript": "NM_005249.4"
              }
            ],
            "ns": "016"
          },
          "entType": "RuleSet",
          "ldhId": "135641459",
          "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135641459",
          "modified": "2023-01-27T21:39:11.248Z",
          "modifier": "cspecAdministrator",
          "rev": "_inf5BHa--T"
        },
        {
          "entContent": {
            "_uniqueProp": "016_nuclear_CDKL5",
            "geneType": "nuclear",
            "genes": [
              {
                "diseases": [
                  {
                    "preferredMondoId": "MONDO:0100039",
                    "preferredTitle": "CDKL5 disorder"
                  }
                ],
                "gene": "CDKL5",
                "preferredTranscript": "NM_001323289.2"
              }
            ],
            "ns": "016"
          },
          "entType": "RuleSet",
          "ldhId": "135641458",
          "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135641458",
          "modified": "2023-01-27T21:39:11.248Z",
          "modifier": "cspecAdministrator",
          "rev": "_inf5BHO--J"
        },
        {
          "entContent": {
            "_uniqueProp": "016_nuclear_SLC9A6",
            "geneType": "nuclear",
            "genes": [
              {
                "diseases": [
                  {
                    "preferredMondoId": "MONDO:0010278",
                    "preferredTitle": "Christianson syndrome"
                  }
                ],
                "gene": "SLC9A6",
                "preferredTranscript": "NM_006359.2"
              }
            ],
            "ns": "016"
          },
          "entType": "RuleSet",
          "ldhId": "135641461",
          "ldhIri": "https://cspec.genome.network/cspec/RuleSet/id/135641461",
          "modified": "2023-01-27T21:39:11.248Z",
          "modifier": "cspecAdministrator",
          "rev": "_inf5BHO--K"
        }
      ]
    },
    "ldhId": "135637589",
    "ldhIri": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637589",
    "modified": "2023-09-29T15:16:47.877Z",
    "modifier": "cspecAdministrator",
    "rev": "_inf5BXi--V"
  },
  "metadata": {
    "rendered": {
      "by": "https://cspec.genome.network/cspec/srvc",
      "when": "2026-04-29T09:19:00.795Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}