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"PMID: 24457358",
"PMID: 23802135 - not associated with optic nerve hypoplasia",
"PMID: 22645276 - report that variants in this gene cause autosomal recessive persistent hyperplasia of the primary vitreous \"Our results strongly suggest that autosomal recessive persistent hyperplastic primary vitreous is caused by N46H and is etiologically related to nonsyndromic congenital retinal nonattachment. The R65G allele, however, cannot explain the ONA phenotype. Our study firmly establishes ATOH7 as a retinal disease gene and provides a functional basis to analyze new coding variants\"",
"PMID: 22584021",
"PMID: 21441919",
"PMID: 21398277",
"PMID: 21427129",
"PMID: 21307088",
"PMID: 20395239",
"PMID: 11889557"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"FLJ23590"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:966",
"gene_name": "Bardet-Biedl syndrome 1",
"omim_gene": [
"209901"
],
"alias_name": null,
"gene_symbol": "BBS1",
"hgnc_symbol": "BBS1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:66278077-66301098",
"ensembl_id": "ENSG00000174483"
}
},
"GRch38": {
"90": {
"location": "11:66510606-66533627",
"ensembl_id": "ENSG00000174483"
}
}
},
"hgnc_date_symbol_changed": "1994-01-28"
},
"penetrance": "Complete",
"phenotypes": [
"Eye Disorders",
"Retinitis pigmentosa",
"Bardet-Biedl syndrome 1, 209900"
],
"transcript": null,
"entity_name": "BBS1",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"FLJ23560"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:26291",
"gene_name": "Bardet-Biedl syndrome 10",
"omim_gene": [
"610148"
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"alias_name": null,
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"hgnc_symbol": "BBS10",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:76738254-76742222",
"ensembl_id": "ENSG00000179941"
}
},
"GRch38": {
"90": {
"location": "12:76344474-76348442",
"ensembl_id": "ENSG00000179941"
}
}
},
"hgnc_date_symbol_changed": "2006-04-28"
},
"penetrance": "Complete",
"phenotypes": [
"Eye Disorders",
"Bardet-Biedl syndrome 10, 615987"
],
"transcript": null,
"entity_name": "BBS10",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"FLJ35630",
"FLJ41559"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:26648",
"gene_name": "Bardet-Biedl syndrome 12",
"omim_gene": [
"610683"
],
"alias_name": null,
"gene_symbol": "BBS12",
"hgnc_symbol": "BBS12",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:123653857-123666098",
"ensembl_id": "ENSG00000181004"
}
},
"GRch38": {
"90": {
"location": "4:122732702-122744943",
"ensembl_id": "ENSG00000181004"
}
}
},
"hgnc_date_symbol_changed": "2006-12-13"
},
"penetrance": "Complete",
"phenotypes": [
"Eye Disorders",
"Bardet-Biedl syndrome 12, 615989"
],
"transcript": null,
"entity_name": "BBS12",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:967",
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"omim_gene": [
"606151"
],
"alias_name": null,
"gene_symbol": "BBS2",
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"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "16:56500748-56554195",
"ensembl_id": "ENSG00000125124"
}
},
"GRch38": {
"90": {
"location": "16:56466836-56520283",
"ensembl_id": "ENSG00000125124"
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}
},
"hgnc_date_symbol_changed": "1993-10-26"
},
"penetrance": "Complete",
"phenotypes": [
"Eye Disorders",
"Bardet-Biedl syndrome 2, 615981",
"Retinitis pigmentosa 74, 616562"
],
"transcript": null,
"entity_name": "BBS2",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:969",
"gene_name": "Bardet-Biedl syndrome 4",
"omim_gene": [
"600374"
],
"alias_name": null,
"gene_symbol": "BBS4",
"hgnc_symbol": "BBS4",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "15:72978527-73030817",
"ensembl_id": "ENSG00000140463"
}
},
"GRch38": {
"90": {
"location": "15:72686179-72738476",
"ensembl_id": "ENSG00000140463"
}
}
},
"hgnc_date_symbol_changed": "1995-07-11"
},
"penetrance": "Complete",
"phenotypes": [
"Eye Disorders",
"Bardet-Biedl syndrome 4, 615982"
],
"transcript": null,
"entity_name": "BBS4",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"DKFZp762I194"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:970",
"gene_name": "Bardet-Biedl syndrome 5",
"omim_gene": [
"603650"
],
"alias_name": null,
"gene_symbol": "BBS5",
"hgnc_symbol": "BBS5",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:170335688-170382432",
"ensembl_id": "ENSG00000163093"
}
},
"GRch38": {
"90": {
"location": "2:169479178-169506655",
"ensembl_id": "ENSG00000163093"
}
}
},
"hgnc_date_symbol_changed": "1998-03-25"
},
"penetrance": "Complete",
"phenotypes": [
"Eye Disorders",
"Bardet-Biedl syndrome 5, 615983"
],
"transcript": null,
"entity_name": "BBS5",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"FLJ10715",
"BBS2L1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:18758",
"gene_name": "Bardet-Biedl syndrome 7",
"omim_gene": [
"607590"
],
"alias_name": null,
"gene_symbol": "BBS7",
"hgnc_symbol": "BBS7",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:122745595-122791652",
"ensembl_id": "ENSG00000138686"
}
},
"GRch38": {
"90": {
"location": "4:121824440-121870497",
"ensembl_id": "ENSG00000138686"
}
}
},
"hgnc_date_symbol_changed": "2003-02-05"
},
"penetrance": "Complete",
"phenotypes": [
"Eye Disorders",
"Bardet-Biedl syndrome 7, 615984"
],
"transcript": null,
"entity_name": "BBS7",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"B1",
"PTHB1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:30000",
"gene_name": "Bardet-Biedl syndrome 9",
"omim_gene": [
"607968"
],
"alias_name": [
"parathyroid hormone responsive B1 gene"
],
"gene_symbol": "BBS9",
"hgnc_symbol": "BBS9",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:33168856-33645680",
"ensembl_id": "ENSG00000122507"
}
},
"GRch38": {
"90": {
"location": "7:33129244-33606068",
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}
}
},
"hgnc_date_symbol_changed": "2007-01-18"
},
"penetrance": "Complete",
"phenotypes": [
"Eye Disorders",
"Bardet-Biedl syndrome 9, 615986"
],
"transcript": null,
"entity_name": "BBS9",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Eligibility statement prior genetic testing",
"Expert Review Green"
],
"gene_data": {
"alias": [
"BMD",
"BEST",
"RP50"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:12703",
"gene_name": "bestrophin 1",
"omim_gene": [
"607854"
],
"alias_name": [
"Best disease"
],
"gene_symbol": "BEST1",
"hgnc_symbol": "BEST1",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:61717293-61732987",
"ensembl_id": "ENSG00000167995"
}
},
"GRch38": {
"90": {
"location": "11:61949821-61965515",
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}
},
"hgnc_date_symbol_changed": "2006-10-18"
},
"penetrance": "Complete",
"phenotypes": [
"Achromatopsia, Cone, and Cone-rod Dystrophy",
"Best macular atrophy (AD)",
"Bestrophinopathy (AR)",
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"Retinitis pigmentosa, concentric (AD)",
"Retinitis pigmentosa-50 (AD)",
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"Vitreoretinochoroidopathy (AD)",
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"Vitelliform macular dystrophy, adult-onset, 608161",
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"Best Vitelliform Macular Dystrophy",
"Eye Disorders",
"Retinitis pigmentosa",
"Retinitis Pigmentosa, Recessive",
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"Macular Dystrophy/Degeneration/Stargardt Disease",
"Macular Dystrophy, Vitelliform",
"VMD",
"Macular Dystrophy, Vitelliform, Adult-Onset",
"Best macular dystrophy"
],
"transcript": null,
"entity_name": "BEST1",
"entity_type": "gene",
"publications": [],
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"CTRP5",
"DKFZp586B0621",
"LORD"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:14344",
"gene_name": "C1q and TNF related 5",
"omim_gene": [
"608752"
],
"alias_name": [
"complement-c1q tumor necrosis factor-related protein 5",
"myonectin"
],
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"hgnc_release": "2017-11-03T00:00:00",
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"GRch37": {
"82": {
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},
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}
},
"hgnc_date_symbol_changed": "2001-10-02"
},
"penetrance": "Complete",
"phenotypes": [
"Eye Disorders",
"Retinal Degeneration",
"Retinitis pigmentosa",
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],
"transcript": null,
"entity_name": "C1QTNF5",
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"mode_of_pathogenicity": ""
},
{
"tags": [
"new-gene-name"
],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"YF5",
"A2",
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],
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"hgnc_id": "HGNC:1260",
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"603191"
],
"alias_name": [
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],
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"GRch37": {
"82": {
"location": "21:45748827-45759285",
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},
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"90": {
"location": "21:44328944-44339402",
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}
},
"hgnc_date_symbol_changed": "1998-08-06"
},
"penetrance": "Complete",
"phenotypes": [
"Retinal dystrophy with macular staphyloma, 617547"
],
"transcript": null,
"entity_name": "C21orf2",
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"23105016",
"26294103",
"27548899"
],
"confidence_level": "3",
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"mode_of_pathogenicity": ""
},
{
"tags": [
"new-gene-name"
],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"FLJ34931",
"RP54"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:34383",
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"omim_gene": [
"613425"
],
"alias_name": null,
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"hgnc_symbol": "C2orf71",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:29283842-29297127",
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}
},
"GRch38": {
"90": {
"location": "2:29060976-29074261",
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}
}
},
"hgnc_date_symbol_changed": "2008-07-07"
},
"penetrance": "Complete",
"phenotypes": [
"Eye Disorders",
"Retinitis pigmentosa 54, 613428",
"Retinitis pigmentosa",
"Retinitis Pigmentosa, Recessive"
],
"transcript": null,
"entity_name": "C2orf71",
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"publications": [],
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},
{
"tags": [],
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"NHS GMS",
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],
"gene_data": {
"alias": [
"FLJ30600",
"CORD16",
"RP64",
"BBS21"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:27232",
"gene_name": "chromosome 8 open reading frame 37",
"omim_gene": [
"614477"
],
"alias_name": null,
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"hgnc_symbol": "C8orf37",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "8:96257147-96281429",
"ensembl_id": "ENSG00000156172"
}
},
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"90": {
"location": "8:95244919-95269201",
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}
}
},
"hgnc_date_symbol_changed": "2005-07-27"
},
"penetrance": "Complete",
"phenotypes": [
"Achromatopsia, Cone, and Cone-rod Dystrophy",
"Eye Disorders",
"Retinitis pigmentosa 64, 614500Cone-rod dystrophy 16, 614500",
"Retinitis pigmentosa",
"Retinitis Pigmentosa, Recessive"
],
"transcript": null,
"entity_name": "C8orf37",
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"publications": [],
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},
{
"tags": [],
"evidence": [
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"Expert Review Green"
],
"gene_data": {
"alias": [
"CSNB2B"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1386",
"gene_name": "calcium binding protein 4",
"omim_gene": [
"608965"
],
"alias_name": null,
"gene_symbol": "CABP4",
"hgnc_symbol": "CABP4",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:67219877-67226699",
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}
},
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"90": {
"location": "11:67452406-67460313",
"ensembl_id": "ENSG00000175544"
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}
},
"hgnc_date_symbol_changed": "2000-08-31"
},
"penetrance": "Complete",
"phenotypes": [
"Achromatopsia, Cone, and Cone-rod Dystrophy",
"Cone-rod synaptic disorder, congenital nonprogressive",
"Congenital Stationary Night Blindness",
"Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427"
],
"transcript": null,
"entity_name": "CABP4",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"Cav1.4",
"JM8",
"JMC8",
"CSNBX2",
"CORDX3",
"CSNB2A",
"OA2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1393",
"gene_name": "calcium voltage-gated channel subunit alpha1 F",
"omim_gene": [
"300110"
],
"alias_name": null,
"gene_symbol": "CACNA1F",
"hgnc_symbol": "CACNA1F",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:49061523-49089833",
"ensembl_id": "ENSG00000102001"
}
},
"GRch38": {
"90": {
"location": "X:49205063-49233371",
"ensembl_id": "ENSG00000102001"
}
}
},
"hgnc_date_symbol_changed": "1997-04-21"
},
"penetrance": "Complete",
"phenotypes": [
"Achromatopsia, Cone, and Cone-rod Dystrophy",
"Congenital Stationary Night Blindness",
"Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071Cone-rod dystropy, X-linked, 3, 300476Aland Island eye disease, 300600"
],
"transcript": null,
"entity_name": "CACNA1F",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:20202",
"gene_name": "calcium voltage-gated channel auxiliary subunit alpha2delta 4",
"omim_gene": [
"608171"
],
"alias_name": null,
"gene_symbol": "CACNA2D4",
"hgnc_symbol": "CACNA2D4",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:1901123-2028002",
"ensembl_id": "ENSG00000151062"
}
},
"GRch38": {
"90": {
"location": "12:1791957-1918836",
"ensembl_id": "ENSG00000151062"
}
}
},
"hgnc_date_symbol_changed": "2003-01-06"
},
"penetrance": "Complete",
"phenotypes": [
"Retinal cone dystrophy 4, 610478",
"Congenital Stationary Night Blindness",
"Achromatopsia, Cone, and Cone-rod Dystrophy"
],
"transcript": null,
"entity_name": "CACNA2D4",
"entity_type": "gene",
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{
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"entity_name": "NMNAT1",
"entity_type": "gene",
"publications": [
"28369829"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"JBTS4",
"SLSN1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:7905",
"gene_name": "nephrocystin 1",
"omim_gene": [
"607100"
],
"alias_name": null,
"gene_symbol": "NPHP1",
"hgnc_symbol": "NPHP1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:110879888-110962643",
"ensembl_id": "ENSG00000144061"
}
},
"GRch38": {
"90": {
"location": "2:110122311-110205066",
"ensembl_id": "ENSG00000144061"
}
}
},
"hgnc_date_symbol_changed": "1991-08-08"
},
"penetrance": "Complete",
"phenotypes": [
"Eye Disorders"
],
"transcript": null,
"entity_name": "NPHP1",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"NPH3",
"KIAA2000",
"FLJ30691",
"FLJ36696",
"MKS7",
"SLSN3",
"CFAP31"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:7907",
"gene_name": "nephrocystin 3",
"omim_gene": [
"608002"
],
"alias_name": [
"Meckel syndrome, type 7",
"cilia and flagella associated protein 31"
],
"gene_symbol": "NPHP3",
"hgnc_symbol": "NPHP3",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:132276986-132441303",
"ensembl_id": "ENSG00000113971"
}
},
"GRch38": {
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"ensembl_id": "ENSG00000113971"
}
}
},
"hgnc_date_symbol_changed": "2000-01-20"
},
"penetrance": "Complete",
"phenotypes": [
"Eye Disorders"
],
"transcript": null,
"entity_name": "NPHP3",
"entity_type": "gene",
"publications": [
"Publications in OMIM",
"homozygous and compound heterozygous mutations in patients with Meckel syndrome. Multiple publications on HGMD of both missense and loss of function mutations in patients with nephronophthisis. Paper by Olbrich et al 2003 Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.Nat Genet. 2003 Aug",
"34(4):455-9. Omran et al (2002) Identification of a gene locus for Senior-Loken syndrome in the region of the nephronophthisis type 3 gene.J. Am. Soc. Nephrol. 13: 75-79",
"NPHP3 mutations have been linked to Senior-Loken syndrome, which involves cystic kidney disease (nephronophthisis) and retinitis pigmentosa or Leber congenital amaurosis."
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"SLSN4",
"KIAA0673",
"POC10"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:19104",
"gene_name": "nephrocystin 4",
"omim_gene": [
"607215"
],
"alias_name": [
"nephroretinin",
"POC10 centriolar protein homolog (Chlamydomonas)"
],
"gene_symbol": "NPHP4",
"hgnc_symbol": "NPHP4",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:5922871-6052533",
"ensembl_id": "ENSG00000131697"
}
},
"GRch38": {
"90": {
"location": "1:5862811-5992473",
"ensembl_id": "ENSG00000131697"
}
}
},
"hgnc_date_symbol_changed": "2002-10-03"
},
"penetrance": "Complete",
"phenotypes": [
"Eye Disorders"
],
"transcript": null,
"entity_name": "NPHP4",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"PNR",
"rd7",
"RP37"
],
"biotype": null,
"hgnc_id": "HGNC:7974",
"gene_name": "nuclear receptor subfamily 2 group E member 3",
"omim_gene": [
"604485"
],
"alias_name": null,
"gene_symbol": "NR2E3",
"hgnc_symbol": "NR2E3",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "15:72084977-72110600",
"ensembl_id": "ENSG00000031544"
}
},
"GRch38": {
"90": {
"location": "15:71792638-71818259",
"ensembl_id": "ENSG00000278570"
}
}
},
"hgnc_date_symbol_changed": "1999-09-16"
},
"penetrance": "Complete",
"phenotypes": [
"Enhanced S - cone syndrome (AR)",
"Retinitis pigmentosa 37 (AD and AR)",
"Eye Disorders",
"Retinitis pigmentosa",
"Retinitis Pigmentosa, Recessive",
"Enhanced S-cone syndrome, 268100"
],
"transcript": null,
"entity_name": "NR2E3",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"D14S46E",
"RP27",
"NRL-MAF"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8002",
"gene_name": "neural retina leucine zipper",
"omim_gene": [
"162080"
],
"alias_name": null,
"gene_symbol": "NRL",
"hgnc_symbol": "NRL",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "14:24549316-24584223",
"ensembl_id": "ENSG00000129535"
}
},
"GRch38": {
"90": {
"location": "14:24080107-24115014",
"ensembl_id": "ENSG00000129535"
}
}
},
"hgnc_date_symbol_changed": "1997-05-22"
},
"penetrance": "Complete",
"phenotypes": [
"Retinal degeneration, autosomal recessive, clumped pigment type (AR)",
"Retinitis pigmentosa 27 (AD)",
"Eye Disorders",
"Retinitis Pigmentosa, Dominant",
"Retinitis pigmentosa",
"Retinitis pigmentosa 27, 613750"
],
"transcript": null,
"entity_name": "NRL",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"CLRP",
"CSNB1A"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8082",
"gene_name": "nyctalopin",
"omim_gene": [
"300278"
],
"alias_name": null,
"gene_symbol": "NYX",
"hgnc_symbol": "NYX",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:41306687-41334963",
"ensembl_id": "ENSG00000188937"
}
},
"GRch38": {
"90": {
"location": "X:41447434-41475710",
"ensembl_id": "ENSG00000188937"
}
}
},
"hgnc_date_symbol_changed": "2000-07-31"
},
"penetrance": "Complete",
"phenotypes": [
"Congenital Stationary Night Blindness",
"Congenital Stationary Night Blindness, X-linked",
"Night blindness, congenital stationary (complete), 1A, X-linked, 310500"
],
"transcript": null,
"entity_name": "NYX",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"HOGA"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8091",
"gene_name": "ornithine aminotransferase",
"omim_gene": [
"613349"
],
"alias_name": [
"Ornithine aminotransferase",
"ornithine aminotransferase precursor",
"gyrate atrophy"
],
"gene_symbol": "OAT",
"hgnc_symbol": "OAT",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:126085872-126107545",
"ensembl_id": "ENSG00000065154"
}
},
"GRch38": {
"90": {
"location": "10:124397303-124418976",
"ensembl_id": "ENSG00000065154"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"penetrance": "Complete",
"phenotypes": [
"Eye Disorders"
],
"transcript": null,
"entity_name": "OAT",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"71-7A",
"JBTS10"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2567",
"gene_name": "OFD1, centriole and centriolar satellite protein",
"omim_gene": [
"300170"
],
"alias_name": null,
"gene_symbol": "OFD1",
"hgnc_symbol": "OFD1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:13752832-13787480",
"ensembl_id": "ENSG00000046651"
}
},
"GRch38": {
"90": {
"location": "X:13734745-13769353",
"ensembl_id": "ENSG00000046651"
}
}
},
"hgnc_date_symbol_changed": "1998-10-01"
},
"penetrance": "Complete",
"phenotypes": [
"Joubert syndrome 10",
"Eye Disorders",
"?Retinitis pigmentosa 23, 300424Joubert syndrome 10, 300804Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209",
"Retinitis pigmentosa"
],
"transcript": null,
"entity_name": "OFD1",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"NHS GMS"
],
"gene_data": {
"alias": [
"COD5"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9936",
"gene_name": "opsin 1, long wave sensitive",
"omim_gene": [
"300822"
],
"alias_name": [
"cone dystrophy 5 (X-linked)"
],
"gene_symbol": "OPN1LW",
"hgnc_symbol": "OPN1LW",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:153409698-153424507",
"ensembl_id": "ENSG00000102076"
}
},
"GRch38": {
"90": {
"location": "X:154144224-154159032",
"ensembl_id": "ENSG00000102076"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"penetrance": "Complete",
"phenotypes": [
"Blue cone monochromacy, 303700"
],
"transcript": null,
"entity_name": "OPN1LW",
"entity_type": "gene",
"publications": [
"8213841",
"8666378",
"15094734",
"8792812"
],
"confidence_level": "3",
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"NHS GMS"
],
"gene_data": {
"alias": [
"OPN1MW1",
"COD5"
],
"biotype": null,
"hgnc_id": "HGNC:4206",
"gene_name": "opsin 1, medium wave sensitive",
"omim_gene": [
"300821"
],
"alias_name": [
"cone dystrophy 5 (X-linked)"
],
"gene_symbol": "OPN1MW",
"hgnc_symbol": "OPN1MW",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:153448107-153461633",
"ensembl_id": "ENSG00000147380"
}
},
"GRch38": {
"90": {
"location": "X:154182596-154196135",
"ensembl_id": "ENSG00000268221"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"penetrance": "Complete",
"phenotypes": [
"Blue cone monochromacy, 303700"
],
"transcript": null,
"entity_name": "OPN1MW",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8522",
"gene_name": "orthodenticle homeobox 2",
"omim_gene": [
"600037"
],
"alias_name": null,
"gene_symbol": "OTX2",
"hgnc_symbol": "OTX2",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "14:57267425-57277197",
"ensembl_id": "ENSG00000165588"
}
},
"GRch38": {
"90": {
"location": "14:56799905-56810479",
"ensembl_id": "ENSG00000165588"
}
}
},
"hgnc_date_symbol_changed": "1994-02-08"
},
"penetrance": "Complete",
"phenotypes": [
"Microphthalmia, syndromic 5, 610125",
"early onset retinal dystrophy",
"autosomal-dominant pattern dystrophy of the retinal pigment epithelium",
"Retinal Dystrophy",
"Eye Disorders"
],
"transcript": null,
"entity_name": "OTX2",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Expert list"
],
"gene_data": {
"alias": [
"HSS",
"FLJ11729",
"PKAN",
"HARP"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:15894",
"gene_name": "pantothenate kinase 2",
"omim_gene": [
"606157"
],
"alias_name": [
"Hallervorden-Spatz syndrome"
],
"gene_symbol": "PANK2",
"hgnc_symbol": "PANK2",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "20:3869486-3907605",
"ensembl_id": "ENSG00000125779"
}
},
"GRch38": {
"90": {
"location": "20:3888839-3929882",
"ensembl_id": "ENSG00000125779"
}
}
},
"hgnc_date_symbol_changed": "2002-09-06"
},
"penetrance": "Complete",
"phenotypes": [
"HARP syndrome",
"Neurodegeneration with brain iron accumulation 1"
],
"transcript": null,
"entity_name": "PANK2",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"CDHR15"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:14674",
"gene_name": "protocadherin related 15",
"omim_gene": [
"605514"
],
"alias_name": [
"cadherin-related family member 15"
],
"gene_symbol": "PCDH15",
"hgnc_symbol": "PCDH15",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:55562531-57387702",
"ensembl_id": "ENSG00000150275"
}
},
"GRch38": {
"90": {
"location": "10:53802771-55627942",
"ensembl_id": "ENSG00000150275"
}
}
},
"hgnc_date_symbol_changed": "2001-02-27"
},
"penetrance": "Complete",
"phenotypes": [
"Usher syndrome Type 1F",
"non-syndromic deafness",
"Usher syndrome, type 1D/F digenic",
"Eye Disorders"
],
"transcript": null,
"entity_name": "PCDH15",
"entity_type": "gene",
"publications": [
"Several mutations reported on HGMD in patients with Usher syndrome Type 1 and also non-syndromic deafness."
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"CT",
"CTPCT"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8754",
"gene_name": "phosphate cytidylyltransferase 1, choline, alpha",
"omim_gene": [
"123695"
],
"alias_name": [
"phosphate cytidylyltransferase 1, choline, alpha isoform"
],
"gene_symbol": "PCYT1A",
"hgnc_symbol": "PCYT1A",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:195941093-196014828",
"ensembl_id": "ENSG00000161217"
}
},
"GRch38": {
"90": {
"location": "3:196214222-196287957",
"ensembl_id": "ENSG00000161217"
}
}
},
"hgnc_date_symbol_changed": "1999-05-05"
},
"penetrance": "Complete",
"phenotypes": [
"Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940"
],
"transcript": null,
"entity_name": "PCYT1A",
"entity_type": "gene",
"publications": [
"Several publications on HGMD in patients with Spondylometaphyseal dysplasia with cone-rod dystrophy"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"RP43"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8785",
"gene_name": "phosphodiesterase 6A",
"omim_gene": [
"180071"
],
"alias_name": null,
"gene_symbol": "PDE6A",
"hgnc_symbol": "PDE6A",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "5:149237519-149324356",
"ensembl_id": "ENSG00000132915"
}
},
"GRch38": {
"90": {
"location": "5:149857955-149944793",
"ensembl_id": "ENSG00000132915"
}
}
},
"hgnc_date_symbol_changed": "1990-03-20"
},
"penetrance": "Complete",
"phenotypes": [
"Retinitis pigmentosa 43",
"Eye Disorders",
"Retinitis pigmentosa",
"Retinitis Pigmentosa, Recessive",
"Retinitis pigmentosa 43, 613810"
],
"transcript": null,
"entity_name": "PDE6A",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"CSNB3",
"rd1",
"RP40",
"CSNBAD2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8786",
"gene_name": "phosphodiesterase 6B",
"omim_gene": [
"180072"
],
"alias_name": [
"congenital stationary night blindness 3, autosomal dominant"
],
"gene_symbol": "PDE6B",
"hgnc_symbol": "PDE6B",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:619373-664571",
"ensembl_id": "ENSG00000133256"
}
},
"GRch38": {
"90": {
"location": "4:625584-670782",
"ensembl_id": "ENSG00000133256"
}
}
},
"hgnc_date_symbol_changed": "1991-01-15"
},
"penetrance": "Complete",
"phenotypes": [
"Night blindness, congenital stationary, autosomal dominant 2",
"Retinitis pigmentosa 40",
"Congenital Stationary Night Blindness, Dominant",
"Congenital Stationary Night Blindness",
"Night blindness, congenital stationary, autosomal dominant 2, 163500",
"Retinitis pigmentosa",
"Retinitis Pigmentosa, Recessive"
],
"transcript": null,
"entity_name": "PDE6B",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"PDEA2",
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"Literature"
],
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"DFNX1"
],
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],
"alias_name": [
"PRS I",
"ribose-phosphate diphosphokinase 1"
],
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}
},
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"ensembl_id": "ENSG00000147224"
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}
},
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},
"penetrance": null,
"phenotypes": [
"retinal dystrophy"
],
"transcript": null,
"entity_name": "PRPS1",
"entity_type": "gene",
"publications": [
"28967191"
],
"confidence_level": "3",
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"mode_of_pathogenicity": null
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9768",
"gene_name": "RAB28, member RAS oncogene family",
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"612994"
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"hgnc_symbol": "RAB28",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:13362978-13485989",
"ensembl_id": "ENSG00000157869"
}
},
"GRch38": {
"90": {
"location": "4:13361354-13484365",
"ensembl_id": "ENSG00000157869"
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}
},
"hgnc_date_symbol_changed": "1999-03-24"
},
"penetrance": "Complete",
"phenotypes": [
"Cone-rod dystrophy 18, 615374"
],
"transcript": null,
"entity_name": "RAB28",
"entity_type": "gene",
"publications": [],
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"mode_of_pathogenicity": ""
},
{
"tags": [],
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"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"MGC15631",
"ARMD6",
"CORD11"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:18286",
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"omim_gene": [
"610362"
],
"alias_name": null,
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}
},
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}
},
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},
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"Macular Degeneration",
"Eye Disorders",
"Cone-Rod Dystrophy, Dominant",
"Cone-rod dystrophy 11"
],
"transcript": null,
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"mode_of_pathogenicity": ""
},
{
"tags": [],
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"NHS GMS",
"Expert Review Green"
],
"gene_data": {
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"D10S64",
"D10S65",
"D10S66",
"RP66"
],
"biotype": null,
"hgnc_id": "HGNC:9921",
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"omim_gene": [
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],
"alias_name": [
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],
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"hgnc_symbol": "RBP3",
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}
},
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}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
"penetrance": "Complete",
"phenotypes": [
"Eye Disorders",
"Retinitis Pigmentosa, Recessive",
"Retinitis pigmentosa",
"?Retinitis pigmentosa 66, 615233"
],
"transcript": null,
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"entity_type": "gene",
"publications": [
"Review of the literature from Stephanie Barton - Arno et al (2015) Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy. Invest Ophthalmol Vis Sci. Apr",
"56(4):2358-65: Two novel homozygous nonsense mutations (c.1530T>A",
"p.Y510* and c.3454G>T",
"p.E1152*) in RBP3 were identified in four patients from two families. All four patients had a similar, unusual retinal dystrophy characterized by childhood onset high myopia, generalized rod and cone dysfunction, and an unremarkable fundus appearance. The FAF imaging showed multiple paracentral foci of low autofluorescence in one patient and patchy increased FAF in the region of the vascular arcades in another. The OCT showed loss of outer retinal bands over peripheral macular areas in all 4 cases",
"Abu-Safieh et al (2013) Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res. Feb",
"23(2):236-47",
"NM_002900.2 RBP3 :c.1162C>T",
"p.(Arg388*) identified in homozygous state in patient with sporadic RP",
"Li et al (2013) Secretory defect and cytotoxicity: the potential disease mechanisms for the retinitis pigmentosa (RP)-associated interphotoreceptor retinoid-binding protein (IRBP). J Biol Chem. Apr 19",
"288(16):11395-406: Functional studies to assess pathogenicity of a missense change, D1080N, that was identified in a homozygous state in a patient with ARRP by Den Hollander et al 2009. The mutation abolished IRBP secretion and induced endoplasmic reticulum stress by forming insoluble IRBP-containing complexes via disulfide bonds. Conclude that Loss of normal function and gain of cytotoxic function are the likely mechanisms for retinal degeneration."
],
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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"Expert Review Green"
],
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"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9922",
"gene_name": "retinol binding protein 4",
"omim_gene": [
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],
"alias_name": null,
"gene_symbol": "RBP4",
"hgnc_symbol": "RBP4",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
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"82": {
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"ensembl_id": "ENSG00000138207"
}
},
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"90": {
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"ensembl_id": "ENSG00000138207"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
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"Macular Dystrophy/Degeneration/Stargardt Disease",
"Congenital Stationary Night Blindness",
"Retinitis pigmentosa"
],
"transcript": null,
"entity_name": "RBP4",
"entity_type": "gene",
"publications": [],
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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"Expert Review Green",
"Expert list"
],
"gene_data": {
"alias": [
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"CLLD7",
"CLLL7"
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"biotype": "protein_coding",
"hgnc_id": "HGNC:18243",
"gene_name": "RCC1 and BTB domain containing protein 1",
"omim_gene": [
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"alias_name": null,
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"hgnc_symbol": "RCBTB1",
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"ensembl_genes": {
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"ensembl_id": "ENSG00000136144"
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},
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"ensembl_id": "ENSG00000136144"
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}
},
"hgnc_date_symbol_changed": "2003-05-02"
},
"penetrance": "Complete",
"phenotypes": [
"familial exudative vitreoretinopathy",
"Coats disease",
"Retinal dystrophy with or without extraocular anomalies, 617175"
],
"transcript": null,
"entity_name": "RCBTB1",
"entity_type": "gene",
"publications": [
"26908610",
"27486781"
],
"confidence_level": "3",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"LCA12"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:19689",
"gene_name": "retinal degeneration 3",
"omim_gene": [
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],
"alias_name": null,
"gene_symbol": "RD3",
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"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:211649864-211666259",
"ensembl_id": "ENSG00000198570"
}
},
"GRch38": {
"90": {
"location": "1:211476522-211492917",
"ensembl_id": "ENSG00000198570"
}
}
},
"hgnc_date_symbol_changed": "2006-11-13"
},
"penetrance": "Complete",
"phenotypes": [
"Leber Congenital Amaurosis",
"Leber congenital amaurosis 12, 610612",
"Eye Disorders"
],
"transcript": null,
"entity_name": "RD3",
"entity_type": "gene",
"publications": [],
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"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
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"SDR7C2",
"LCA13",
"RP53"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:19977",
"gene_name": "retinol dehydrogenase 12 (all-trans/9-cis/11-cis)",
"omim_gene": [
"608830"
],
"alias_name": [
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],
"gene_symbol": "RDH12",
"hgnc_symbol": "RDH12",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "14:68168603-68201169",
"ensembl_id": "ENSG00000139988"
}
},
"GRch38": {
"90": {
"location": "14:67701886-67734452",
"ensembl_id": "ENSG00000139988"
}
}
},
"hgnc_date_symbol_changed": "2002-12-11"
},
"penetrance": "Complete",
"phenotypes": [
"Leber congenital amaurosis 13",
"Macular Dystrophy/Degeneration/Stargardt Disease",
"Leber congenital amaurosis 13, 612712",
"Eye Disorders",
"Retinitis Pigmentosa, Recessive",
"Retinitis pigmentosa"
],
"transcript": null,
"entity_name": "RDH12",
"entity_type": "gene",
"publications": [
"31505163"
],
"confidence_level": "3",
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"HSD17B9",
"SDR9C5"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9940",
"gene_name": "retinol dehydrogenase 5",
"omim_gene": [
"601617"
],
"alias_name": [
"short chain dehydrogenase/reductase family 9C, member 5"
],
"gene_symbol": "RDH5",
"hgnc_symbol": "RDH5",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:56114151-56118489",
"ensembl_id": "ENSG00000135437"
}
},
"GRch38": {
"90": {
"location": "12:55720367-55724705",
"ensembl_id": "ENSG00000135437"
}
}
},
"hgnc_date_symbol_changed": "1996-07-19"
},
"penetrance": "Complete",
"phenotypes": [
"Achromatopsia, Cone, and Cone-rod Dystrophy",
"Congenital Stationary Night Blindness",
"Fundus albipunctatus, 136880",
"Fundus albipunctatus"
],
"transcript": null,
"entity_name": "RDH5",
"entity_type": "gene",
"publications": [
"21529959"
],
"confidence_level": "3",
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"NHS GMS",
"RetNet",
"Literature"
],
"gene_data": {
"alias": [
"DP1L1",
"FLJ25383",
"Yip2f"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:30078",
"gene_name": "receptor accessory protein 6",
"omim_gene": [
"609346"
],
"alias_name": [
"polyposis locus protein 1-like 1",
"deleted in polyposis 1-like 1"
],
"gene_symbol": "REEP6",
"hgnc_symbol": "REEP6",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:1491165-1497926",
"ensembl_id": "ENSG00000115255"
}
},
"GRch38": {
"90": {
"location": "19:1490747-1497927",
"ensembl_id": "ENSG00000115255"
}
}
},
"hgnc_date_symbol_changed": "2006-02-07"
},
"penetrance": "Complete",
"phenotypes": [
"retinitis pigmentosa",
"Retinitis pigmentosa 77, 617304"
],
"transcript": null,
"entity_name": "REEP6",
"entity_type": "gene",
"publications": [
"30101608",
"28475715",
"28369466",
"27889058",
"24691551"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": null
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"PERRS",
"RGS9L",
"MGC26458",
"MGC111763"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10004",
"gene_name": "regulator of G protein signaling 9",
"omim_gene": [
"604067"
],
"alias_name": [
"regulator of G protein signalling 9",
"regulator of G protein signalling 9L",
"regulator of G-protein signaling 9L"
],
"gene_symbol": "RGS9",
"hgnc_symbol": "RGS9",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:63133549-63223821",
"ensembl_id": "ENSG00000108370"
}
},
"GRch38": {
"90": {
"location": "17:65100812-65227703",
"ensembl_id": "ENSG00000108370"
}
}
},
"hgnc_date_symbol_changed": "1998-12-15"
},
"penetrance": "Complete",
"phenotypes": [
"Achromatopsia, Cone, and Cone-rod Dystrophy",
"Eye Disorders"
],
"transcript": null,
"entity_name": "RGS9",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"OPN2",
"CSNBAD1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10012",
"gene_name": "rhodopsin",
"omim_gene": [
"180380"
],
"alias_name": [
"opsin 2, rod pigment"
],
"gene_symbol": "RHO",
"hgnc_symbol": "RHO",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:129247483-129254012",
"ensembl_id": "ENSG00000163914"
}
},
"GRch38": {
"90": {
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}
}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
"penetrance": "Complete",
"phenotypes": [
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"Retinitis pigmentosa",
"Retinitis punctata albescens",
"Congenital Stationary Night Blindness",
"Retinitis pigmentosa 4, autosomal dominant or recessive, 613731",
"Retinitis Pigmentosa, Dominant/Recessive",
"Retinitis pigmentosa"
],
"transcript": null,
"entity_name": "RHO",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"CRALBP"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10024",
"gene_name": "retinaldehyde binding protein 1",
"omim_gene": [
"180090"
],
"alias_name": null,
"gene_symbol": "RLBP1",
"hgnc_symbol": "RLBP1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
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"82": {
"location": "15:89753100-89764982",
"ensembl_id": "ENSG00000140522"
}
},
"GRch38": {
"90": {
"location": "15:89209869-89221751",
"ensembl_id": "ENSG00000140522"
}
}
},
"hgnc_date_symbol_changed": "1991-05-15"
},
"penetrance": "Complete",
"phenotypes": [
"Bothnia retinal dystrophy",
"Fundus albipunctatus",
"Newfoundland rod - cone dystrophy",
"Retinitis punctata albescens",
"Fundus albipunctatus, 136880",
"Fundus Albipunctatus",
"Eye Disorders",
"Retinitis Pigmentosa, Recessive",
"Retinitis pigmentosa"
],
"transcript": null,
"entity_name": "RLBP1",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"DCDC4A",
"ORP1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10263",
"gene_name": "RP1, axonemal microtubule associated",
"omim_gene": [
"603937"
],
"alias_name": [
"doublecortin domain containing 4A",
"oxygen-regulated protein 1"
],
"gene_symbol": "RP1",
"hgnc_symbol": "RP1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "8:55528627-55543394",
"ensembl_id": "ENSG00000104237"
}
},
"GRch38": {
"90": {
"location": "8:54554361-54871720",
"ensembl_id": "ENSG00000104237"
}
}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
"penetrance": "Complete",
"phenotypes": [
"Retinitis pigmentosa 1",
"Eye Disorders",
"Retinitis pigmentosa 1, 180100{Hypertriglyceridemia, susceptibility to}, 145750",
"Retinitis Pigmentosa, Dominant",
"Retinitis pigmentosa",
"rod-cone dystrophy"
],
"transcript": null,
"entity_name": "RP1",
"entity_type": "gene",
"publications": [
"25692139",
"8931712",
"10391211",
"15863674"
],
"confidence_level": "3",
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"DCDC4B"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:15946",
"gene_name": "RP1 like 1",
"omim_gene": [
"608581"
],
"alias_name": [
"doublecortin domain containing 4B"
],
"gene_symbol": "RP1L1",
"hgnc_symbol": "RP1L1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "8:10463859-10569697",
"ensembl_id": "ENSG00000183638"
}
},
"GRch38": {
"90": {
"location": "8:10606349-10712187",
"ensembl_id": "ENSG00000183638"
}
}
},
"hgnc_date_symbol_changed": "2001-07-26"
},
"penetrance": "Complete",
"phenotypes": [
"Occult Macular Dystrophy",
"Occult macular dystrophy, 613587"
],
"transcript": null,
"entity_name": "RP1L1",
"entity_type": "gene",
"publications": [
"23281133",
"20826268"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"TBCCD2",
"NME10",
"NM23-H10"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10274",
"gene_name": "RP2, ARL3 GTPase activating protein",
"omim_gene": [
"300757"
],
"alias_name": null,
"gene_symbol": "RP2",
"hgnc_symbol": "RP2",
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"ensembl_genes": {
"GRch37": {
"82": {
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},
"GRch38": {
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"ensembl_id": "ENSG00000102218"
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}
},
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},
"penetrance": "Complete",
"phenotypes": [
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"RP2-related X-linked Retinitis Pigmentosa",
"Eye Disorders",
"Retinitis pigmentosa",
"Retinitis pigmentosa 2, 312600",
"Retinitis Pigmentosa, X-linked"
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"transcript": null,
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"confidence_level": "3",
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"mode_of_pathogenicity": ""
},
{
"tags": [],
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"Expert Review Green"
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"biotype": "protein_coding",
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"82": {
"location": "7:33134409-33149013",
"ensembl_id": "ENSG00000164610"
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},
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"90": {
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"ensembl_id": "ENSG00000164610"
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}
},
"hgnc_date_symbol_changed": "1994-04-27"
},
"penetrance": "Complete",
"phenotypes": [
"Eye Disorders",
"Retinitis Pigmentosa, Dominant",
"Retinitis pigmentosa",
"Retinitis pigmentosa 9, 180104"
],
"transcript": null,
"entity_name": "RP9",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [
"gene-therapy-trial"
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"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"LCA2",
"rd12",
"BCO3"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10294",
"gene_name": "RPE65, retinoid isomerohydrolase",
"omim_gene": [
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"alias_name": [
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"ensembl_genes": {
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"82": {
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},
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"90": {
"location": "1:68428822-68449959",
"ensembl_id": "ENSG00000116745"
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}
},
"hgnc_date_symbol_changed": "1993-10-04"
},
"penetrance": "Complete",
"phenotypes": [
"Leber congenital amaurosis 2",
"Retinitis pigmentosa 20",
"Leber Congenital Amaurosis",
"Leber congenital amaurosis 2, 204100",
"Eye Disorders",
"Retinitis Pigmentosa, Recessive",
"Retinitis pigmentosa"
],
"transcript": null,
"entity_name": "RPE65",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [
"gene-therapy-trial"
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"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"CORDX1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10295",
"gene_name": "retinitis pigmentosa GTPase regulator",
"omim_gene": [
"312610"
],
"alias_name": null,
"gene_symbol": "RPGR",
"hgnc_symbol": "RPGR",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:38128416-38186817",
"ensembl_id": "ENSG00000156313"
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},
"GRch38": {
"90": {
"location": "X:38269163-38327564",
"ensembl_id": "ENSG00000156313"
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}
},
"hgnc_date_symbol_changed": "1999-04-29"
},
"penetrance": "Complete",
"phenotypes": [
"Achromatopsia, Cone, and Cone-rod Dystrophy",
"Cone - rod dystrophy - 1",
"Macular degeneration, X - linked atrophic",
"Retinitis pigmentosa 3",
"Retinitis pigmentosa, X -linked, and sinorespiratory infections, with or without deafness",
"Retinitis pigmentosa 3, 300029Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455Macular degeneration, X-linked atrophic, 300834Cone-rod dystrophy, X-linked, 1, 304020",
"Retinitis pigmentosa 3, 300029",
"Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455",
"Macular degeneration, X-linked atrophic, 300834",
"Cone-rod dystrophy, X-linked, 1, 304020",
"Macular Dystrophy/Degeneration/Stargardt Disease",
"RPGR-related X-linked Retinitis Pigmentosa",
"Eye Disorders",
"Retinitis pigmentosa"
],
"transcript": null,
"entity_name": "RPGR",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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"Expert Review Green"
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"LCA6",
"CORD13"
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"biotype": "protein_coding",
"hgnc_id": "HGNC:13436",
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"omim_gene": [
"605446"
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"hgnc_symbol": "RPGRIP1",
"hgnc_release": "2017-11-03T00:00:00",
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},
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"90": {
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"ensembl_id": "ENSG00000092200"
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}
},
"hgnc_date_symbol_changed": "2000-12-20"
},
"penetrance": "Complete",
"phenotypes": [
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"Cone - rod dystrophy 13",
"Leber congenital amaurosis 6",
"",
"Macular Dystrophy/Degeneration/Stargardt Disease",
"Leber Congenital Amaurosis",
"Leber congenital amaurosis 6, 613826",
"Eye Disorders",
"Retinitis pigmentosa",
"Cone-Rod Dystrophy, Recessive",
"Leber congenital amaurosis 6, 613826Cone-rod dystrophy 13, 608194"
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"transcript": null,
"entity_name": "RPGRIP1",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
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"Expert Review Green"
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"CORS3",
"JBTS7",
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"FTM",
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},
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"ensembl_id": "ENSG00000103494"
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},
"hgnc_date_symbol_changed": "2007-05-14"
},
"penetrance": "Complete",
"phenotypes": [
"COACH syndrome",
"Joubert syndrome 7",
"Meckel syndrome 5",
"Eye Disorders"
],
"transcript": null,
"entity_name": "RPGRIP1L",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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"Eligibility statement prior genetic testing",
"Expert Review Green"
],
"gene_data": {
"alias": [
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],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10457",
"gene_name": "retinoschisin 1",
"omim_gene": [
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"alias_name": null,
"gene_symbol": "RS1",
"hgnc_symbol": "RS1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:18658030-18690229",
"ensembl_id": "ENSG00000102104"
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},
"GRch38": {
"90": {
"location": "X:18639910-18672109",
"ensembl_id": "ENSG00000102104"
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}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"penetrance": "Complete",
"phenotypes": [
"Developmental macular and foveal dystrophy (males with foveal schisis)",
"Eye Disorders"
],
"transcript": null,
"entity_name": "RS1",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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"Expert Review Green"
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"gene_data": {
"alias": [
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"RP47"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10521",
"gene_name": "S-antigen visual arrestin",
"omim_gene": [
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],
"alias_name": [
"arrestin 1",
"rod arrestin"
],
"gene_symbol": "SAG",
"hgnc_symbol": "SAG",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:234216462-234255701",
"ensembl_id": "ENSG00000130561"
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},
"GRch38": {
"90": {
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"ensembl_id": "ENSG00000130561"
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}
},
"hgnc_date_symbol_changed": "1989-09-19"
},
"penetrance": "Complete",
"phenotypes": [
"Oguchi disease - 1",
"Retinitis pigmentosa 47",
"Oguchi Disease",
"Congenital Stationary Night Blindness",
"Oguchi disease-1, 258100",
"Retinitis Pigmentosa, Recessive",
"Retinitis pigmentosa"
],
"transcript": null,
"entity_name": "SAG",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Literature"
],
"gene_data": {
"alias": [
"Zfp291"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:13081",
"gene_name": "S-phase cyclin A associated protein in the ER",
"omim_gene": [
"611611"
],
"alias_name": null,
"gene_symbol": "SCAPER",
"hgnc_symbol": "SCAPER",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "15:76640526-77197785",
"ensembl_id": "ENSG00000140386"
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},
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"90": {
"location": "15:76347904-76905444",
"ensembl_id": "ENSG00000140386"
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}
},
"hgnc_date_symbol_changed": "2007-08-20"
},
"penetrance": "Complete",
"phenotypes": [
"More than one phenotype including syndromic cases for syndromic forms of Inherited retinal disease or albinism",
"Intellectual developmental disorder and retinitis pigmentosa, 618195"
],
"transcript": null,
"entity_name": "SCAPER",
"entity_type": "gene",
"publications": [
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"28794130",
"28041643"
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"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
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"CCCAP",
"SLSN7",
"NPHP10",
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"hgnc_id": "HGNC:10671",
"gene_name": "serologically defined colon cancer antigen 8",
"omim_gene": [
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],
"alias_name": [
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"Bardet-Biedl syndrome 16",
"nephrocystin 10",
"Senior-Loken syndrome 7"
],
"gene_symbol": "SDCCAG8",
"hgnc_symbol": "SDCCAG8",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:243419320-243663394",
"ensembl_id": "ENSG00000054282"
}
},
"GRch38": {
"90": {
"location": "1:243256034-243500092",
"ensembl_id": "ENSG00000054282"
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}
},
"hgnc_date_symbol_changed": "1999-08-25"
},
"penetrance": "Complete",
"phenotypes": [
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],
"transcript": null,
"entity_name": "SDCCAG8",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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"Expert Review Green"
],
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"NCKX",
"RODX",
"KIAA0702",
"HsT17412",
"CSNB1D"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10975",
"gene_name": "solute carrier family 24 member 1",
"omim_gene": [
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],
"alias_name": null,
"gene_symbol": "SLC24A1",
"hgnc_symbol": "SLC24A1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "15:65903704-65953333",
"ensembl_id": "ENSG00000074621"
}
},
"GRch38": {
"90": {
"location": "15:65611366-65660995",
"ensembl_id": "ENSG00000074621"
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}
},
"hgnc_date_symbol_changed": "1999-02-18"
},
"penetrance": "Complete",
"phenotypes": [
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"Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830"
],
"transcript": null,
"entity_name": "SLC24A1",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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"Expert Review Green",
"Literature"
],
"gene_data": {
"alias": [],
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"hgnc_id": "HGNC:32434",
"gene_name": "solute carrier family 38 member 8",
"omim_gene": [
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"alias_name": null,
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"hgnc_symbol": "SLC38A8",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "16:84043272-84076241",
"ensembl_id": "ENSG00000166558"
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},
"GRch38": {
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"ensembl_id": "ENSG00000166558"
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}
},
"hgnc_date_symbol_changed": "2008-02-18"
},
"penetrance": "Complete",
"phenotypes": [
"Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218"
],
"transcript": null,
"entity_name": "SLC38A8",
"entity_type": "gene",
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"24045842",
"15466012",
"24290379",
"24045842"
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"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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"Expert Review Green"
],
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"HELIC2",
"KIAA0788",
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"gene_name": "small nuclear ribonucleoprotein U5 subunit 200",
"omim_gene": [
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],
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"hgnc_symbol": "SNRNP200",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
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},
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}
},
"hgnc_date_symbol_changed": "2008-10-29"
},
"penetrance": "Complete",
"phenotypes": [
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"Retinitis Pigmentosa, Dominant",
"Retinitis pigmentosa",
"Retinitis pigmentosa 33, 610359"
],
"transcript": null,
"entity_name": "SNRNP200",
"entity_type": "gene",
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"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
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"Expert Review Green"
],
"gene_data": {
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"hgnc_release": "2017-11-03T00:00:00",
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},
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}
},
"hgnc_date_symbol_changed": "2003-03-07"
},
"penetrance": "Complete",
"phenotypes": [
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"Retinitis pigmentosa, juvenile, autosomal recessive",
"Leber Congenital Amaurosis",
"Leber congenital amaurosis 3, 604232",
"Retinitis pigmentosa, juvenile, autosomal recessive",
"Eye Disorders",
"Leber congenital amaurosis 3, 604232Retinitis pigmentosa, juvenile, autosomal recessive, 604232",
"Retinitis Pigmentosa, Recessive",
"Retinitis pigmentosa"
],
"transcript": null,
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"mode_of_pathogenicity": ""
},
{
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"NHS GMS"
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},
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}
},
"hgnc_date_symbol_changed": "2007-11-12"
},
"penetrance": null,
"phenotypes": [
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"Kahrizi syndrome, 612713"
],
"transcript": null,
"entity_name": "SRD5A3",
"entity_type": "gene",
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"30019980",
"24433453"
],
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"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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"NHS GMS"
],
"gene_data": {
"alias": [
"DDP",
"MTS"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11817",
"gene_name": "translocase of inner mitochondrial membrane 8A",
"omim_gene": [
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],
"alias_name": null,
"gene_symbol": "TIMM8A",
"hgnc_symbol": "TIMM8A",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:100600649-100604184",
"ensembl_id": "ENSG00000126953"
}
},
"GRch38": {
"90": {
"location": "X:101345661-101349196",
"ensembl_id": "ENSG00000126953"
}
}
},
"hgnc_date_symbol_changed": "1999-12-01"
},
"penetrance": "Complete",
"phenotypes": [
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},
"hgnc_date_symbol_changed": "1986-01-01"
},
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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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},
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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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}
},
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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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],
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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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},
{
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],
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"RIM1"
],
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],
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],
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},
{
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],
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"ROM"
],
"biotype": "protein_coding",
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}
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},
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"Eye Disorders",
"Retinitis Pigmentosa, Dominant",
"Retinitis pigmentosa",
"Retinitis pigmentosa 7, digenic, 608133"
],
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"entity_name": "ROM1",
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},
{
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],
"gene_data": {
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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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"Expert Review Red"
],
"gene_data": {
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"OCA4"
],
"biotype": "protein_coding",
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],
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{
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