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{
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"ensembl_id": "ENSG00000049167"
}
}
},
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},
"penetrance": "Complete",
"phenotypes": [
"Cockayne syndrome type A MIMID",
"UV-sensitive syndrome 2",
"confirmed DD gene for Cockayne Syndrome Type A"
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"entity_name": "ERCC8",
"entity_type": "gene",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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"UKGTN",
"Illumina TruGenome Clinical Sequencing Services"
],
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"HCC",
"HYCC1",
"hyccin"
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"ensembl_genes": {
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"ensembl_id": "ENSG00000122591"
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},
"GRch38": {
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"ensembl_id": "ENSG00000122591"
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}
},
"hgnc_date_symbol_changed": "2006-09-06"
},
"penetrance": "Complete",
"phenotypes": [
"Hypomyelination and Congenital Cataract",
"Leukodystrophy hypomyelinating 5",
"Leukodystrophy hypomyelinating type 5"
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"entity_name": "FAM126A",
"entity_type": "gene",
"publications": [],
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"UKGTN"
],
"gene_data": {
"alias": [
"FREAC8"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3808",
"gene_name": "forkhead box E3",
"omim_gene": [
"601094"
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"hgnc_symbol": "FOXE3",
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"GRch37": {
"82": {
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"ensembl_id": "ENSG00000186790"
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},
"GRch38": {
"90": {
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"ensembl_id": "ENSG00000186790"
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}
},
"hgnc_date_symbol_changed": "1995-06-05"
},
"penetrance": "Complete",
"phenotypes": [
"Autosomal dominant cataracts",
"Peter's anomaly, microphthalmia."
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"entity_name": "FOXE3",
"entity_type": "gene",
"publications": [
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"Semina et al (2001) Hum Mol Genet 10:231-236",
"Br mond-Gignac et al (2010) Mol Vis 16:1705-1711."
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"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Illumina TruGenome Clinical Sequencing Services",
"Radboud University Medical Center, Nijmegen",
"UKGTN"
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"gene_data": {
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"NBIA3"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3999",
"gene_name": "ferritin light chain",
"omim_gene": [
"134790"
],
"alias_name": [
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"L apoferritin",
"ferritin L subunit",
"ferritin light chain",
"ferritin L-chain",
"neurodegeneration with brain iron accumulation 3"
],
"gene_symbol": "FTL",
"hgnc_symbol": "FTL",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
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"82": {
"location": "19:49468558-49470135",
"ensembl_id": "ENSG00000087086"
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},
"GRch38": {
"90": {
"location": "19:48965301-48966878",
"ensembl_id": "ENSG00000087086"
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}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"penetrance": "Complete",
"phenotypes": [
"Hyperferritinemia-cataract syndrome, 600886",
"Hyperferritinemia Cataract Syndrome",
"HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME"
],
"entity_name": "FTL",
"entity_type": "gene",
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"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"UKGTN",
"Radboud University Medical Center, Nijmegen",
"Illumina TruGenome Clinical Sequencing Services"
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"ZFYVE7"
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"omim_gene": [
"607182"
],
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"GRch37": {
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"ensembl_id": "ENSG00000163820"
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},
"GRch38": {
"90": {
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"ensembl_id": "ENSG00000163820"
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}
},
"hgnc_date_symbol_changed": "2001-03-06"
},
"penetrance": "Complete",
"phenotypes": [
"Congenital Cataract",
"Cataract 18, autosomal recessive, 610019",
"Cataract 18, autosomal recessive",
"CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2"
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"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"UKGTN",
"Radboud University Medical Center, Nijmegen"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4118",
"gene_name": "galactokinase 1",
"omim_gene": [
"604313"
],
"alias_name": null,
"gene_symbol": "GALK1",
"hgnc_symbol": "GALK1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
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"82": {
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"ensembl_id": "ENSG00000108479"
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},
"GRch38": {
"90": {
"location": "17:75751594-75765711",
"ensembl_id": "ENSG00000108479"
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}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
"penetrance": "Complete",
"phenotypes": [
"Galactokinase deficiency with cataracts, 230200",
"Galactokinase deficiency with cataracts",
"galactosemia II"
],
"entity_name": "GALK1",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"UKGTN"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4135",
"gene_name": "galactose-1-phosphate uridylyltransferase",
"omim_gene": [
"606999"
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"alias_name": null,
"gene_symbol": "GALT",
"hgnc_symbol": "GALT",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "9:34638130-34651032",
"ensembl_id": "ENSG00000213930"
}
},
"GRch38": {
"90": {
"location": "9:34638133-34651035",
"ensembl_id": "ENSG00000213930"
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}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"penetrance": "Complete",
"phenotypes": [
"Confirmed DD gene for galactosemia"
],
"entity_name": "GALT",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"UKGTN",
"Radboud University Medical Center, Nijmegen",
"Illumina TruGenome Clinical Sequencing Services"
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"gene_data": {
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"NAGCT1",
"bA421M1.1",
"bA360O19.2",
"ULG3"
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"biotype": "protein_coding",
"hgnc_id": "HGNC:4204",
"gene_name": "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)",
"omim_gene": [
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"unassigned linkage group 3"
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"gene_symbol": "GCNT2",
"hgnc_symbol": "GCNT2",
"hgnc_release": "2017-11-03T00:00:00",
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"GRch37": {
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},
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}
},
"hgnc_date_symbol_changed": "1993-09-07"
},
"penetrance": "Complete",
"phenotypes": [
"Adult i Blood Group With or Without Congenital Cataract",
"[Blood group, Ii], 110800"
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"entity_name": "GCNT2",
"entity_type": "gene",
"publications": [
"Yu et al (2001) Blood 98:3840-3845",
"Pras et al (2004) Invest Ophthalmol 45:1940-5"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Literature"
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"gene_data": {
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"DKFZP434B131",
"p97",
"DKFZP434D174",
"HC56",
"HCAP1"
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"hgnc_id": "HGNC:15717",
"gene_name": "gem nuclear organelle associated protein 4",
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],
"alias_name": [
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"component of gems 4"
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"gene_symbol": "GEMIN4",
"hgnc_symbol": "GEMIN4",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:647654-657239",
"ensembl_id": "ENSG00000179409"
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},
"GRch38": {
"90": {
"location": "17:744414-753999",
"ensembl_id": "ENSG00000179409"
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}
},
"hgnc_date_symbol_changed": "2001-08-07"
},
"penetrance": null,
"phenotypes": [
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"entity_name": "GEMIN4",
"entity_type": "gene",
"publications": [
"27878435",
"25558065"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"UKGTN",
"Radboud University Medical Center, Nijmegen",
"Illumina TruGenome Clinical Sequencing Services"
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"gene_data": {
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],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4277",
"gene_name": "gap junction protein alpha 3",
"omim_gene": [
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],
"alias_name": [
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],
"gene_symbol": "GJA3",
"hgnc_symbol": "GJA3",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "13:20712394-20735188",
"ensembl_id": "ENSG00000121743"
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},
"GRch38": {
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"ensembl_id": "ENSG00000121743"
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}
},
"hgnc_date_symbol_changed": "1990-02-12"
},
"penetrance": "Complete",
"phenotypes": [
"Zonular Pulverulent Cataract",
"Cataract 14, multiple types, 601885",
"CATARACT ZONULAR PULVERULENT CATARACT TYPE 3",
"Cataract 14, multiple types"
],
"entity_name": "GJA3",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"UKGTN",
"Radboud University Medical Center, Nijmegen",
"Illumina TruGenome Clinical Sequencing Services"
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"alias": [
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"biotype": "protein_coding",
"hgnc_id": "HGNC:4281",
"gene_name": "gap junction protein alpha 8",
"omim_gene": [
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],
"alias_name": [
"connexin 50"
],
"gene_symbol": "GJA8",
"hgnc_symbol": "GJA8",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:147374946-147381393",
"ensembl_id": "ENSG00000121634"
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},
"GRch38": {
"90": {
"location": "1:147907956-147909257",
"ensembl_id": "ENSG00000121634"
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}
},
"hgnc_date_symbol_changed": "1995-11-29"
},
"penetrance": "Complete",
"phenotypes": [
"Cataract-Microcornea Syndrome",
"Cataract 1, multiple types, 116200",
"CATARACT-MICROCORNEA SYNDROME",
"CATARACT ZONULAR PULVERULENT TYPE 1",
"Cataract 1, multiple types"
],
"entity_name": "GJA8",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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"UKGTN"
],
"gene_data": {
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"DAPAT",
"DAP-AT"
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"biotype": "protein_coding",
"hgnc_id": "HGNC:4416",
"gene_name": "glyceronephosphate O-acyltransferase",
"omim_gene": [
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"alias_name": [
"glycerone-phosphate O-acyltransferase",
"dihydroxyacetone phosphate acyltransferase"
],
"gene_symbol": "GNPAT",
"hgnc_symbol": "GNPAT",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:231376953-231413719",
"ensembl_id": "ENSG00000116906"
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},
"GRch38": {
"90": {
"location": "1:231241207-231277973",
"ensembl_id": "ENSG00000116906"
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}
},
"hgnc_date_symbol_changed": "1998-10-29"
},
"penetrance": "Complete",
"phenotypes": [
"Confirmed DD gene for Rhizomelic Chondrodysplasia Punctata type 2",
"rhizomelic chondrodysplasia punctata type 2 (RCDP2)"
],
"entity_name": "GNPAT",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert list",
"Expert Review Green"
],
"gene_data": {
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"bA120J8.2",
"TTD-A",
"TFB5",
"TFIIH",
"TTDA"
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"hgnc_id": "HGNC:21157",
"gene_name": "general transcription factor IIH subunit 5",
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],
"alias_name": [
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],
"gene_symbol": "GTF2H5",
"hgnc_symbol": "GTF2H5",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:158589384-158620376",
"ensembl_id": "ENSG00000272047"
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},
"GRch38": {
"90": {
"location": "6:158168352-158199344",
"ensembl_id": "ENSG00000272047"
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}
},
"hgnc_date_symbol_changed": "2004-07-16"
},
"penetrance": null,
"phenotypes": [
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],
"entity_name": "GTF2H5",
"entity_type": "gene",
"publications": [
"24986372",
"15220921"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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"UKGTN"
],
"gene_data": {
"alias": [
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"NKX5-3"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:5017",
"gene_name": "H6 family homeobox 1",
"omim_gene": [
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],
"alias_name": null,
"gene_symbol": "HMX1",
"hgnc_symbol": "HMX1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:8847802-8873543",
"ensembl_id": "ENSG00000215612"
}
},
"GRch38": {
"90": {
"location": "4:8846076-8871817",
"ensembl_id": "ENSG00000215612"
}
}
},
"hgnc_date_symbol_changed": "1994-12-19"
},
"penetrance": "Complete",
"phenotypes": [
"Oculoauricular syndrome"
],
"entity_name": "HMX1",
"entity_type": "gene",
"publications": [
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"Schorderet et al (2008) Am. J. Hum. Genet. 82: 1178-1184"
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"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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"UKGTN",
"Radboud University Medical Center, Nijmegen",
"Illumina TruGenome Clinical Sequencing Services"
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"gene_data": {
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"biotype": "protein_coding",
"hgnc_id": "HGNC:5227",
"gene_name": "heat shock transcription factor 4",
"omim_gene": [
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],
"alias_name": null,
"gene_symbol": "HSF4",
"hgnc_symbol": "HSF4",
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"ensembl_genes": {
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"ensembl_id": "ENSG00000102878"
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},
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"ensembl_id": "ENSG00000102878"
}
}
},
"hgnc_date_symbol_changed": "1998-03-17"
},
"penetrance": "Complete",
"phenotypes": [
"Cataracts",
"Cataract 5, multiple types, 116800",
"CATARACT ZONULAR HSF4-RELATED",
"CATARACT MARNER TYPE"
],
"entity_name": "HSF4",
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"publications": [],
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"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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"Literature"
],
"gene_data": {
"alias": [
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"PARK13"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:14348",
"gene_name": "HtrA serine peptidase 2",
"omim_gene": [
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],
"alias_name": null,
"gene_symbol": "HTRA2",
"hgnc_symbol": "HTRA2",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
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"ensembl_id": "ENSG00000115317"
}
},
"GRch38": {
"90": {
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"ensembl_id": "ENSG00000115317"
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}
},
"hgnc_date_symbol_changed": "2005-08-19"
},
"penetrance": "Complete",
"phenotypes": [
"3-methylglutaconic aciduria, type VIII\t617248"
],
"entity_name": "HTRA2",
"entity_type": "gene",
"publications": [
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"27696117"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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],
"gene_data": {
"alias": [
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],
"biotype": "protein_coding",
"hgnc_id": "HGNC:33882",
"gene_name": "inositol polyphosphate-5-phosphatase K",
"omim_gene": [
"607875"
],
"alias_name": [
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],
"gene_symbol": "INPP5K",
"hgnc_symbol": "INPP5K",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
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"ensembl_id": "ENSG00000132376"
}
},
"GRch38": {
"90": {
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"ensembl_id": "ENSG00000132376"
}
}
},
"hgnc_date_symbol_changed": "2008-09-09"
},
"penetrance": "Complete",
"phenotypes": [
"Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy",
"Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment"
],
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"28190456"
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},
{
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},
{
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"Cataract 19, 615277"
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"Pras et al (2002) Am J Hum genet 70:1363-7"
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},
{
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"PIM1"
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"27878435",
"29408517",
"25808063",
"28148925"
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"mode_of_pathogenicity": ""
},
{
"tags": [],
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"Expert Review Green"
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"82": {
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},
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"90": {
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}
},
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},
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"phenotypes": [
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"entity_name": "LSS",
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"29016354",
"26200641"
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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"UKGTN",
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"biotype": "protein_coding",
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},
"hgnc_date_symbol_changed": "1991-08-01"
},
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"CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES",
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"Ayme-Gripp syndrome",
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"entity_name": "MAF",
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"mode_of_pathogenicity": ""
},
{
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"UKGTN"
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},
"hgnc_date_symbol_changed": "2001-06-22"
},
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],
"entity_name": "MAN2B1",
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"publications": [
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{
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"UKGTN"
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},
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],
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"Expert Review"
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"ERG25"
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},
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},
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},
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},
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}
},
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"entity_name": "NDP",
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},
{
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},
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}
},
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},
"penetrance": "Complete",
"phenotypes": [],
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{
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},
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},
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},
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},
{
"tags": [],
"evidence": [
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"UKGTN"
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},
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}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"penetrance": "Complete",
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},
{
"tags": [],
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},
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},
{
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"biotype": "protein_coding",
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"omim_gene": [
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"alias_name": [
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"hgnc_symbol": "P3H2",
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"ensembl_genes": {
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},
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"Warburg Micro syndrome-1"
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},
{
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}
},
"hgnc_date_symbol_changed": "2005-08-23"
},
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"Warburg micro syndrome 2",
"Warburg Micro syndrome-2"
],
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},
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"UKGTN"
],
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}
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},
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"phenotypes": [],
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"Gillespie et al (2014) Ophthalmology 121(11):2124-37"
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},
{
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"UKGTN"
],
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"ULG5"
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}
},
"hgnc_date_symbol_changed": "2005-09-01"
},
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"phenotypes": [
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],
"entity_name": "SIL1",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
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"Expert Review Green",
"UKGTN"
],
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"DYT18",
"DYT9"
],
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},
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}
},
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},
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],
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"Flatt et al (2011) 118(19):5267-77"
],
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"mode_of_pathogenicity": ""
},
{
"tags": [],
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"Expert Review Green",
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],
"gene_data": {
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"AT1"
],
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},
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"90": {
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}
},
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"penetrance": "Complete",
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],
"entity_name": "SLC33A1",
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],
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"mode_of_pathogenicity": ""
},
{
"tags": [],
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"Expert Review Green",
"UKGTN"
],
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"SRD5A2L",
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}
},
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}
},
"hgnc_date_symbol_changed": "2007-11-12"
},
"penetrance": "Complete",
"phenotypes": [
"Kahrizi syndrome."
],
"entity_name": "SRD5A3",
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"Kahrizi et al (2011) Europ. J. Hum. Genet. 19: 115-117",
"Najmabadi et al (2011) Nature 478:57"
],
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"mode_of_pathogenicity": ""
},
{
"tags": [],
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"Expert Review Green",
"UKGTN",
"Radboud University Medical Center, Nijmegen",
"Illumina TruGenome Clinical Sequencing Services"
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},
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}
},
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},
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"Cataract 36, 613887"
],
"entity_name": "TDRD7",
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"PMID: 25120344",
"24435515",
"Lachke et al (2011) Science 331(6024):1571-1576"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Expert list"
],
"gene_data": {
"alias": [
"AP-2"
],
"biotype": "protein_coding",
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],
"alias_name": null,
"gene_symbol": "TFAP2A",
"hgnc_symbol": "TFAP2A",
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"ensembl_genes": {
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"82": {
"location": "6:10393419-10419892",
"ensembl_id": "ENSG00000137203"
}
},
"GRch38": {
"90": {
"location": "6:10393186-10419659",
"ensembl_id": "ENSG00000137203"
}
}
},
"hgnc_date_symbol_changed": "1991-09-12"
},
"penetrance": "Complete",
"phenotypes": [
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],
"entity_name": "TFAP2A",
"entity_type": "gene",
"publications": [
"Gestri et al (2009) Hum Genet 126:791-803. Milunsky et al. 2008 Am J Hum Genet. 2 82(5):1171_1177. Reiber et al (2010) Am J Med Genet 152A:994-999."
],
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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"Radboud University Medical Center, Nijmegen"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
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],
"alias_name": null,
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}
},
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}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"penetrance": "Complete",
"phenotypes": [
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],
"entity_name": "VIM",
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"PMID: 19126778 Muller et al (2009) Hum Mol Genet 18:1052-1057 - sequencing of the VIM gene in 90 individuals wuth congenital cataract, identified a E151K missense variant in one individual, which functional studies showed disrupted function",
"PMID: 26694549 Ma et al, 2016 - novel likely pathogenic frameshift variant identified in a patient with congenital cataracts p.Val6Cysfs∗26",
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],
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},
{
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],
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],
"biotype": "protein_coding",
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},
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}
},
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},
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],
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],
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},
{
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],
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},
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}
},
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"mode_of_pathogenicity": ""
},
{
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}
},
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}
}
},
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},
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],
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"mode_of_pathogenicity": ""
},
{
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],
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},
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}
}
},
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},
"penetrance": null,
"phenotypes": [
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],
"entity_name": "XYLT2",
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"26027496",
"28884924",
"30496831",
"29136277"
],
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Amber",
"Expert list"
],
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"alias_name": null,
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"82": {
"location": "21:38738092-38889753",
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}
},
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}
},
"hgnc_date_symbol_changed": "1999-01-29"
},
"penetrance": null,
"phenotypes": [
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],
"entity_name": "DYRK1A",
"entity_type": "gene",
"publications": [
"28053047",
"25944381"
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],
"entity_name": "AKR1E2",
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},
{
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"hgnc_date_symbol_changed": "1987-09-11"
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"Marfan syndrome",
"Weill-Marchesani syndrome"
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"TABP",
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},
{
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],
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],
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}
},
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},
"penetrance": "Complete",
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"confidence_level": "1",
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"mode_of_pathogenicity": ""
},
{
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"UKGTN"
],
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},
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},
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"Chiara Manzini et al (2008) Hum Mutat 29:E231-E241"
],
"confidence_level": "1",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
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],
"gene_data": {
"alias": [
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],
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}
},
"hgnc_date_symbol_changed": "2001-02-15"
},
"penetrance": "Complete",
"phenotypes": [
"Congenital cataract"
],
"entity_name": "PRX",
"entity_type": "gene",
"publications": [
"27081207"
],
"confidence_level": "1",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red",
"UKGTN"
],
"gene_data": {
"alias": [
"BCNS"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9585",
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"601309"
],
"alias_name": null,
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}
},
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}
},
"hgnc_date_symbol_changed": "2006-09-26"
},
"penetrance": "Complete",
"phenotypes": [
"BASAL CELL NEVUS SYNDROME"
],
"entity_name": "PTCH1",
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],
"confidence_level": "1",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [],
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"Expert Review Red",
"UKGTN"
],
"gene_data": {
"alias": [
"RecQ4"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9949",
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"603780"
],
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"82": {
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},
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}
},
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},
"penetrance": "Complete",
"phenotypes": [
"Rothmund-Thomson syndrome, 268400",
"RAPADILINO syndrome, 266280",
"Baller-Gerold syndrome, 218600",
"Rothmund-Thomson syndrome"
],
"entity_name": "RECQL4",
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"Wang et al (2003) J. Nat. Cancer Inst. 95: 669-674"
],
"confidence_level": "1",
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"mode_of_pathogenicity": ""
},
{
"tags": [
"founder-effect"
],
"evidence": [
"Expert Review Red",
"Literature"
],
"gene_data": {
"alias": [
"bA207C16.1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:17686",
"gene_name": "RIC1 homolog, RAB6A GEF complex partner 1",
"omim_gene": [
"610354"
],
"alias_name": null,
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"GRch37": {
"82": {
"location": "9:5629025-5776557",
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},
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"90": {
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}
},
"hgnc_date_symbol_changed": "2014-07-23"
},
"penetrance": null,
"phenotypes": [
"Pediatric posterior lenticonus cataract and global developmental delay"
],
"entity_name": "RIC1",
"entity_type": "gene",
"publications": [
"27878435"
],
"confidence_level": "1",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red",
"Expert list"
],
"gene_data": {
"alias": [
"FLJ11218",
"renalase"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:25641",
"gene_name": "renalase, FAD dependent amine oxidase",
"omim_gene": [
"609360"
],
"alias_name": null,
"gene_symbol": "RNLS",
"hgnc_symbol": "RNLS",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:90033621-90344287",
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}
},
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"90": {
"location": "10:88273864-88584530",
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}
},
"hgnc_date_symbol_changed": "2009-04-22"
},
"penetrance": "Complete",
"phenotypes": [
"Congenital cataract, autosomal recessive"
],
"entity_name": "RNLS",
"entity_type": "gene",
"publications": [
"22935719"
],
"confidence_level": "1",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red",
"UKGTN"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10701",
"gene_name": "Sec23 homolog A, coat complex II component",
"omim_gene": [
"610511"
],
"alias_name": null,
"gene_symbol": "SEC23A",
"hgnc_symbol": "SEC23A",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "14:39501123-39578850",
"ensembl_id": "ENSG00000100934"
}
},
"GRch38": {
"90": {
"location": "14:39031919-39109646",
"ensembl_id": "ENSG00000100934"
}
}
},
"hgnc_date_symbol_changed": "2000-01-07"
},
"penetrance": "Complete",
"phenotypes": [
"Craniolenticulosutural dysplasia",
"Cranio-lenticulo-sutural dysplasia"
],
"entity_name": "SEC23A",
"entity_type": "gene",
"publications": [
"PMID: 21039434",
"16980979",
"Boyadjiev et al (2006) Nature Genet. 38: 1192-1197",
"Boyadjiev et al (2011) Clin. Genet. 80: 169-176."
],
"confidence_level": "1",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red",
"UKGTN"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10889",
"gene_name": "SIX homeobox 3",
"omim_gene": [
"603714"
],
"alias_name": null,
"gene_symbol": "SIX3",
"hgnc_symbol": "SIX3",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:45168902-45173216",
"ensembl_id": "ENSG00000138083"
}
},
"GRch38": {
"90": {
"location": "2:44941898-44946077",
"ensembl_id": "ENSG00000138083"
}
}
},
"hgnc_date_symbol_changed": "1998-04-21"
},
"penetrance": "Complete",
"phenotypes": [
"Holoprosencephaly-2",
"Schizencephaly"
],
"entity_name": "SIX3",
"entity_type": "gene",
"publications": [],
"confidence_level": "1",
"mode_of_inheritance": "",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red",
"UKGTN"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10891",
"gene_name": "SIX homeobox 5",
"omim_gene": [
"600963"
],
"alias_name": null,
"gene_symbol": "SIX5",
"hgnc_symbol": "SIX5",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:46268043-46272484",
"ensembl_id": "ENSG00000177045"
}
},
"GRch38": {
"90": {
"location": "19:45764785-45769226",
"ensembl_id": "ENSG00000177045"
}
}
},
"hgnc_date_symbol_changed": "1997-05-29"
},
"penetrance": "Complete",
"phenotypes": [
"Broanchiootorenal syndrome"
],
"entity_name": "SIX5",
"entity_type": "gene",
"publications": [],
"confidence_level": "1",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red",
"UKGTN",
"Radboud University Medical Center, Nijmegen"
],
"gene_data": {
"alias": [
"Six9"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10892",
"gene_name": "SIX homeobox 6",
"omim_gene": [
"606326"
],
"alias_name": null,
"gene_symbol": "SIX6",
"hgnc_symbol": "SIX6",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "14:60975669-60979568",
"ensembl_id": "ENSG00000184302"
}
},
"GRch38": {
"90": {
"location": "14:60508951-60512850",
"ensembl_id": "ENSG00000184302"
}
}
},
"hgnc_date_symbol_changed": "1998-04-21"
},
"penetrance": "Complete",
"phenotypes": [
"Microphthalmia with cataract 2, 212550"
],
"entity_name": "SIX6",
"entity_type": "gene",
"publications": [],
"confidence_level": "1",
"mode_of_inheritance": "",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red",
"UKGTN",
"Radboud University Medical Center, Nijmegen"
],
"gene_data": {
"alias": [
"MCT12"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:23094",
"gene_name": "solute carrier family 16 member 12",
"omim_gene": [
"611910"
],
"alias_name": [
"monocarboxylic acid transporter 12"
],
"gene_symbol": "SLC16A12",
"hgnc_symbol": "SLC16A12",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:91190051-91316398",
"ensembl_id": "ENSG00000152779"
}
},
"GRch38": {
"90": {
"location": "10:89430299-89556641",
"ensembl_id": "ENSG00000152779"
}
}
},
"hgnc_date_symbol_changed": "2003-09-24"
},
"penetrance": "Complete",
"phenotypes": [
"Cataract, juvenile, with microcornea and glucosuria, 612018"
],
"entity_name": "SLC16A12",
"entity_type": "gene",
"publications": [
"Kloeckener-Gruissem et al (2008) Am J Hum Genet 82:772-779 - a nonsense variant in SLC16A12 was identified in a Swiss family with autosomal dominant juvenile cataract, microcornea, and renal glucosuria. High SLC16A12 transcript expression levels in the eye and kidney was observed",
"Functional study: Castorino et al (2011) IOVS 52:6774 PMID: 21778275 - reports the variant causes a defect in protein trafficking",
"A 5'UTR SNP was identified in one patient with age-related cataract, and caused increased expression in luciferase assays PMID: 20181839"
],
"confidence_level": "1",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": "Other - please provide details in the comments"
},
{
"tags": [],
"evidence": [
"Expert Review Red",
"UKGTN"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11195",
"gene_name": "SRY-box 2",
"omim_gene": [
"184429"
],
"alias_name": null,
"gene_symbol": "SOX2",
"hgnc_symbol": "SOX2",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:181429714-181432221",
"ensembl_id": "ENSG00000181449"
}
},
"GRch38": {
"90": {
"location": "3:181711924-181714436",
"ensembl_id": "ENSG00000181449"
}
}
},
"hgnc_date_symbol_changed": "1993-11-30"
},
"penetrance": "Complete",
"phenotypes": [],
"entity_name": "SOX2",
"entity_type": "gene",
"publications": [],
"confidence_level": "1",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red",
"UKGTN"
],
"gene_data": {
"alias": [
"SREBP2",
"bHLHd2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11290",
"gene_name": "sterol regulatory element binding transcription factor 2",
"omim_gene": [
"600481"
],
"alias_name": null,
"gene_symbol": "SREBF2",
"hgnc_symbol": "SREBF2",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "22:42229109-42303312",
"ensembl_id": "ENSG00000198911"
}
},
"GRch38": {
"90": {
"location": "22:41833079-41907308",
"ensembl_id": "ENSG00000198911"
}
}
},
"hgnc_date_symbol_changed": "1994-11-23"
},
"penetrance": "Complete",
"phenotypes": [],
"entity_name": "SREBF2",
"entity_type": "gene",
"publications": [],
"confidence_level": "1",
"mode_of_inheritance": "",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red",
"Literature"
],
"gene_data": {
"alias": [
"TAFI48",
"SL1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11532",
"gene_name": "TATA-box binding protein associated factor, RNA polymerase I subunit A",
"omim_gene": [
"604903"
],
"alias_name": null,
"gene_symbol": "TAF1A",
"hgnc_symbol": "TAF1A",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:222731244-222763275",
"ensembl_id": "ENSG00000143498"
}
},
"GRch38": {
"90": {
"location": "1:222557902-222589933",
"ensembl_id": "ENSG00000143498"
}
}
},
"hgnc_date_symbol_changed": "1999-01-18"
},
"penetrance": null,
"phenotypes": [
"Congenital cataract and global developmental delay"
],
"entity_name": "TAF1A",
"entity_type": "gene",
"publications": [
"27878435"
],
"confidence_level": "1",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red",
"Literature"
],
"gene_data": {
"alias": [
"FLJ90013"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:26887",
"gene_name": "transmembrane anterior posterior transformation 1",
"omim_gene": [
"612758"
],
"alias_name": null,
"gene_symbol": "TAPT1",
"hgnc_symbol": "TAPT1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:16162128-16229033",
"ensembl_id": "ENSG00000169762"
}
},
"GRch38": {
"90": {
"location": "4:16160505-16227410",
"ensembl_id": "ENSG00000169762"
}
}
},
"hgnc_date_symbol_changed": "2007-02-02"
},
"penetrance": null,
"phenotypes": [
"Pediatric posterior lenticonus cataract"
],
"entity_name": "TAPT1",
"entity_type": "gene",
"publications": [
"27878435"
],
"confidence_level": "1",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red",
"Expert list"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:33227",
"gene_name": "transmembrane protein 114",
"omim_gene": [
"611579"
],
"alias_name": null,
"gene_symbol": "TMEM114",
"hgnc_symbol": "TMEM114",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "16:8619502-8622304",
"ensembl_id": "ENSG00000232258"
}
},
"GRch38": {
"90": {
"location": "16:8537605-8590193",
"ensembl_id": "ENSG00000232258"
}
}
},
"hgnc_date_symbol_changed": "2007-08-01"
},
"penetrance": "Complete",
"phenotypes": [
"Cataract and microphthalmia"
],
"entity_name": "TMEM114",
"entity_type": "gene",
"publications": [
"PMID: 17492639 Jamieson et al (2007) Hum Mutat 28:968-977 - original report of a balanced translocation which involved the TMEM114 gene associated with congenital/juvenile cataracts in a family pedigree. They also report identifying heterozygous missense variants in several other cases, however these were found in healthy sibling and mother: \"The I35T and F106L variants were in conserved amino acids in the first predicted protein loop outside the membrane (Fig. 3A and B). These mutations were absent in 200 normal control chromosomes as well as 129 other congenital cataract patients. Nevertheless, these mutations were also detected in a heterozygous state in the DNA from the patients’ apparently healthy sibling and mother, respectively. One sequence variant, c.440C4T, p.A147V, was a polymorphism, which was found three times in the cohort and was not present in all affected individuals in a familial case.\"",
"PMID: 24357539 Gai et al, (2014) - report a deletion of the TMEM114 gene in a boy and father without cataracts, and summarise further database entries of deletions which have also not reported a cataract phenotype. They highlight that either non-penetrance, or other factors are causal in the previous published report that associated variants in this gene with cataract."
],
"confidence_level": "1",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [
"new-gene-name"
],
"evidence": [
"Expert Review Red",
"Other"
],
"gene_data": {
"alias": [
"HP10481"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:13530",
"gene_name": "transmembrane protein 5",
"omim_gene": [
"605862"
],
"alias_name": null,
"gene_symbol": "TMEM5",
"hgnc_symbol": "TMEM5",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:64173583-64203338",
"ensembl_id": "ENSG00000118600"
}
},
"GRch38": {
"90": {
"location": "12:63779803-63809558",
"ensembl_id": "ENSG00000118600"
}
}
},
"hgnc_date_symbol_changed": "2000-09-20"
},
"penetrance": "Complete",
"phenotypes": [
"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10"
],
"entity_name": "TMEM5",
"entity_type": "gene",
"publications": [],
"confidence_level": "1",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red",
"Expert list"
],
"gene_data": {
"alias": [
"FLJ20533"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:26050",
"gene_name": "transmembrane protein 70",
"omim_gene": [
"612418"
],
"alias_name": null,
"gene_symbol": "TMEM70",
"hgnc_symbol": "TMEM70",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "8:74884672-74895018",
"ensembl_id": "ENSG00000175606"
}
},
"GRch38": {
"90": {
"location": "8:73972437-73982783",
"ensembl_id": "ENSG00000175606"
}
}
},
"hgnc_date_symbol_changed": "2005-08-26"
},
"penetrance": "Complete",
"phenotypes": [
"Congenital cataract, neonatal lactic acidosis, cardiomyopathy, encephalomyopathy",
"Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2"
],
"entity_name": "TMEM70",
"entity_type": "gene",
"publications": [
"Atay et al (2013) Gene 515:197-9 (PMID: 23235116)",
"Spiegel et al(2011) J. Med. Genet. 48: 177-182 (PMID: 21147908)"
],
"confidence_level": "1",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
}
],
"stats": {
"number_of_strs": 0,
"number_of_genes": 172,
"number_of_regions": 0
},
"types": [
{
"name": "Rare Disease 100K",
"slug": "rare-disease-100k",
"description": "Rare Disease 100K"
},
{
"name": "GMS Rare Disease Virtual",
"slug": "gms-rare-disease-virtual",
"description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
},
{
"name": "GMS signed-off",
"slug": "gms-signed-off",
"description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
}
],
"status": "public",
"hash_id": "553f979fbb5a1616e5ed45f8",
"regions": [],
"version": "2.0",
"disease_group": "Ophthalmological disorders",
"version_created": "2019-10-02T14:52:22.701027Z",
"disease_sub_group": "Anterior segment abnormalities",
"relevant_disorders": [
"R31"
],
"signed_off": null
}