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{
"id": 307,
"hash_id": "56e0238b22c1fc09c97a6e46",
"name": "Retinal disorders",
"disease_group": "Ophthalmological disorders",
"disease_sub_group": "Posterior segment abnormalities",
"status": "public",
"version": "5.4",
"version_created": "2024-05-02T13:52:40.847312Z",
"relevant_disorders": [
"Posterior segment abnormalities",
"Cone Dysfunction Syndrome",
"Developmental macular and foveal dystrophy",
"Inherited macular dystrophy",
"Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy",
"Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy",
"Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy",
"Rod Dysfunction Syndrome",
"Rod-cone dystrophy",
"Familial exudative vitreoretinopathy",
"Familial exudative retinopathy",
"Sorsby retinal dystrophy",
"Doyne retinal dystrophy",
"R32"
],
"stats": {
"number_of_genes": 422,
"number_of_strs": 1,
"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."
}
],
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{
"gene_data": {
"alias": [
"FFM",
"ARMD2",
"CORD3"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:34",
"gene_name": "ATP binding cassette subfamily A member 4",
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"601691"
],
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"Stargardt disease"
],
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"hgnc_symbol": "ABCA4",
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"GRch37": {
"82": {
"location": "1:94458393-94586688",
"ensembl_id": "ENSG00000198691"
}
},
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"90": {
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"ensembl_id": "ENSG00000198691"
}
}
},
"hgnc_date_symbol_changed": "1994-07-14"
},
"entity_type": "gene",
"entity_name": "ABCA4",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
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"Achromatopsia, Cone, and Cone-rod Dystrophy",
"Macular Dystrophy/Degeneration/Stargardt Disease",
"Stargardt disease 1, 248200",
"Macular Degeneration (Dominant)",
"Stargardt Disease, Recessive",
"Retinitis pigmentosa 19, 601718",
"Cone-rod dystrophy 3, 604116",
"Macular degeneration, age-related, 2, 153800",
"Fundus flavimaculatus, 248200",
"Retinal dystrophy, early-onset severe, 248200",
"Retinitis pigmentosa",
"Retinitis Pigmentosa, Recessive",
"Stargardt disease 1, 248200Retinitis pigmentosa 19, 601718Cone-rod dystrophy 3, 604116Macular degeneration, age-related, 2, 153800Fundus flavimaculatus, 248200Retinal dystrophy, early-onset severe, 248200",
"Eye Disorders",
"Retinitis pigmentosa 19, 601718",
"Cone-rod dystrophy 3, 604116",
"Macular degeneration, age-related, 2, 153800",
"Fundus flavimaculatus, 248200",
"Retinal dystrophy, early-onset severe, 248200",
"Macular Degeneration",
"Stargardt Disease 1",
"STGD1"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"MRP6",
"EST349056",
"MLP1",
"URG7"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:57",
"gene_name": "ATP binding cassette subfamily C member 6",
"omim_gene": [
"603234"
],
"alias_name": null,
"gene_symbol": "ABCC6",
"hgnc_symbol": "ABCC6",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "16:16242785-16317379",
"ensembl_id": "ENSG00000091262"
}
},
"GRch38": {
"90": {
"location": "16:16148928-16223522",
"ensembl_id": "ENSG00000091262"
}
}
},
"hgnc_date_symbol_changed": "1997-10-27"
},
"entity_type": "gene",
"entity_name": "ABCC6",
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"penetrance": null,
"mode_of_pathogenicity": "",
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"evidence": [
"Expert Review Green",
"NHS GMS",
"RetNet"
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"phenotypes": [
"Pseudoxanthoma elasticum, OMIM:264800",
"inherited pseudoxanthoma elasticum, MONDO:0100091"
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"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"DKFZP434P106",
"dJ965G21.2",
"BEM46L2",
"ABHD12A"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:15868",
"gene_name": "abhydrolase domain containing 12",
"omim_gene": [
"613599"
],
"alias_name": null,
"gene_symbol": "ABHD12",
"hgnc_symbol": "ABHD12",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "20:25275379-25371619",
"ensembl_id": "ENSG00000100997"
}
},
"GRch38": {
"90": {
"location": "20:25294743-25390983",
"ensembl_id": "ENSG00000100997"
}
}
},
"hgnc_date_symbol_changed": "2006-03-10"
},
"entity_type": "gene",
"entity_name": "ABHD12",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Eye Disorders",
"Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC)",
"Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"DKFZp434A2417",
"KIAA1996"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:23338",
"gene_name": "acyl-CoA binding domain containing 5",
"omim_gene": [
"616618"
],
"alias_name": null,
"gene_symbol": "ACBD5",
"hgnc_symbol": "ACBD5",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:27484146-27531059",
"ensembl_id": "ENSG00000107897"
}
},
"GRch38": {
"90": {
"location": "10:27195214-27242130",
"ensembl_id": "ENSG00000107897"
}
}
},
"hgnc_date_symbol_changed": "2003-11-11"
},
"entity_type": "gene",
"entity_name": "ACBD5",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"27799409",
"23105016",
"33427402"
],
"evidence": [
"Expert Review Green",
"NHS GMS"
],
"phenotypes": [
"Retinal dystrophy with leukodystrophy, OMIM:618863, MONDO:0030026"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"ACONM"
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"biotype": "protein_coding",
"hgnc_id": "HGNC:118",
"gene_name": "aconitase 2",
"omim_gene": [
"100850"
],
"alias_name": [
"aconitate hydratase, mitochondrial",
"mitochondrial aconitase"
],
"gene_symbol": "ACO2",
"hgnc_symbol": "ACO2",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "22:41865129-41924993",
"ensembl_id": "ENSG00000100412"
}
},
"GRch38": {
"90": {
"location": "22:41469125-41528989",
"ensembl_id": "ENSG00000100412"
}
}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
"entity_type": "gene",
"entity_name": "ACO2",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"34056600"
],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Infantile cerebellar-retinal degeneration, 614559"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"MDC9",
"KIAA0021",
"MCMP",
"Mltng"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:216",
"gene_name": "ADAM metallopeptidase domain 9",
"omim_gene": [
"602713"
],
"alias_name": [
"meltrin gamma"
],
"gene_symbol": "ADAM9",
"hgnc_symbol": "ADAM9",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "8:38854388-38962663",
"ensembl_id": "ENSG00000168615"
}
},
"GRch38": {
"90": {
"location": "8:38996869-39105144",
"ensembl_id": "ENSG00000168615"
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}
},
"hgnc_date_symbol_changed": "1998-12-01"
},
"entity_type": "gene",
"entity_name": "ADAM9",
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"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Achromatopsia, Cone, and Cone-rod Dystrophy",
"Eye Disorders",
"Cone-Rod Dystrophy, Recessive",
"Cone-rod dystrophy 9, 612775"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:17110",
"gene_name": "ADAM metallopeptidase with thrombospondin type 1 motif 18",
"omim_gene": [
"607512"
],
"alias_name": null,
"gene_symbol": "ADAMTS18",
"hgnc_symbol": "ADAMTS18",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "16:77281710-77469011",
"ensembl_id": "ENSG00000140873"
}
},
"GRch38": {
"90": {
"location": "16:77247813-77435114",
"ensembl_id": "ENSG00000140873"
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}
},
"hgnc_date_symbol_changed": "2002-02-13"
},
"entity_type": "gene",
"entity_name": "ADAMTS18",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Genetic Retinal Degeneration Conditions",
"Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"DKFZp761P0710",
"KIAA0686",
"FEB4",
"VLGR1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:17416",
"gene_name": "adhesion G protein-coupled receptor V1",
"omim_gene": [
"602851"
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"alias_name": null,
"gene_symbol": "ADGRV1",
"hgnc_symbol": "ADGRV1",
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"GRch37": {
"82": {
"location": "5:89825161-90460038",
"ensembl_id": "ENSG00000164199"
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},
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"90": {
"location": "5:90529344-91164437",
"ensembl_id": "ENSG00000164199"
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}
},
"hgnc_date_symbol_changed": "2015-03-03"
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"entity_name": "ADGRV1",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Usher syndrome, type 2C, 605472",
"Eye Disorders",
"Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"SPAX5"
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"biotype": "protein_coding",
"hgnc_id": "HGNC:315",
"gene_name": "AFG3 like matrix AAA peptidase subunit 2",
"omim_gene": [
"604581"
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"alias_name": null,
"gene_symbol": "AFG3L2",
"hgnc_symbol": "AFG3L2",
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"GRch37": {
"82": {
"location": "18:12328943-12377313",
"ensembl_id": "ENSG00000141385"
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},
"GRch38": {
"90": {
"location": "18:12328944-12377314",
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}
},
"hgnc_date_symbol_changed": "1999-07-13"
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"26539208",
"30252181",
"30389403",
"32219868",
"32600459",
"32548275"
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"RetNet"
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"Spastic ataxia 5, autosomal recessive, OMIM:614487"
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"tags": [],
"transcript": null
},
{
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"alias": [
"FLJ21839",
"CCP5"
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"alias_name": [
"cytosolic carboxypeptidase 5"
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"hgnc_symbol": "AGBL5",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:27265232-27293490",
"ensembl_id": "ENSG00000084693"
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},
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"90": {
"location": "2:27042364-27070622",
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}
},
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"penetrance": "Complete",
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"26355662",
"27764769",
"27842159"
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"Expert Review Green",
"Other"
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"phenotypes": [
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],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
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},
{
"gene_data": {
"alias": [
"FLJ20069",
"ORF1",
"JBTS3"
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"biotype": "protein_coding",
"hgnc_id": "HGNC:21575",
"gene_name": "Abelson helper integration site 1",
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"608894"
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"alias_name": [
"Jouberin"
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"hgnc_symbol": "AHI1",
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},
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"90": {
"location": "6:135283532-135497776",
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}
},
"hgnc_date_symbol_changed": "2003-08-22"
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"penetrance": "Complete",
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"evidence": [
"NHS GMS",
"Expert Review Green"
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"phenotypes": [
"Eye Disorders",
"Joubert syndrome 3, 608629"
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"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:359",
"gene_name": "aryl hydrocarbon receptor interacting protein like 1",
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"604392"
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"alias_name": null,
"gene_symbol": "AIPL1",
"hgnc_symbol": "AIPL1",
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"GRch37": {
"82": {
"location": "17:6297013-6338519",
"ensembl_id": "ENSG00000129221"
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},
"GRch38": {
"90": {
"location": "17:6393693-6435199",
"ensembl_id": "ENSG00000129221"
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}
},
"hgnc_date_symbol_changed": "1999-03-18"
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"penetrance": "Complete",
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"10615133",
"10873396",
"15249368",
"21900377",
"33067476"
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"mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
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"alias": [
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"APS1"
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"607358"
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"alias_name": [
"autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"
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"82": {
"location": "21:45705721-45718531",
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},
"GRch38": {
"90": {
"location": "21:44285838-44298648",
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},
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"penetrance": null,
"mode_of_pathogenicity": "",
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"evidence": [
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"NHS GMS"
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],
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"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FALDH"
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"82": {
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"90": {
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},
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"29183715",
"31273323"
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"Literature"
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"tags": [],
"transcript": []
},
{
"gene_data": {
"alias": [
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},
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"Expert Review Green"
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"Eye Disorders",
"Alstrom syndrome, 203800"
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{
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"28544275",
"31604776",
"31130378",
"28554942",
"37431817"
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"Expert list"
],
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],
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"tags": [],
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},
{
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],
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],
"alias_name": null,
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"hgnc_symbol": "MTTP",
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},
"GRch38": {
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}
}
},
"hgnc_date_symbol_changed": "2005-11-04"
},
"entity_type": "gene",
"entity_name": "MTTP",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
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"NHS GMS"
],
"phenotypes": [
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],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"LRBP",
"MK"
],
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"hgnc_id": "HGNC:7530",
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],
"alias_name": [
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"mevalonic aciduria"
],
"gene_symbol": "MVK",
"hgnc_symbol": "MVK",
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"ensembl_id": "ENSG00000110921"
}
},
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}
},
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},
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"35916082"
],
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],
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"Mevalonic aciduria, OMIM:610377",
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],
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"tags": [],
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},
{
"gene_data": {
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],
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"hgnc_id": "HGNC:7606",
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],
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"ensembl_id": "ENSG00000137474"
}
},
"GRch38": {
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}
},
"hgnc_date_symbol_changed": "1992-06-08"
},
"entity_type": "gene",
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"Expert Review Green"
],
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],
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"tags": [],
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},
{
"gene_data": {
"alias": [
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],
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"hgnc_id": "HGNC:15625",
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],
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"ensembl_genes": {
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"ensembl_id": "ENSG00000151779"
}
},
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}
},
"hgnc_date_symbol_changed": "2009-02-16"
},
"entity_type": "gene",
"entity_name": "NBAS",
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"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
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"28115293",
"36479642",
"34110364"
],
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"Expert Review Green",
"NHS GMS",
"RetNet"
],
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"short stature-optic atrophy-Pelger-HuC+t anomaly syndrome, MONDO:0013889"
],
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"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"norrin"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:7678",
"gene_name": "NDP, norrin cystine knot growth factor",
"omim_gene": [
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],
"alias_name": null,
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"hgnc_symbol": "NDP",
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"ensembl_genes": {
"GRch37": {
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"ensembl_id": "ENSG00000124479"
}
},
"GRch38": {
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"location": "X:43948776-43973504",
"ensembl_id": "ENSG00000124479"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "NDP",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Eye Disorders"
],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
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"BHF-1",
"NeuroD",
"bHLHa3",
"MODY6"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:7762",
"gene_name": "neuronal differentiation 1",
"omim_gene": [
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],
"alias_name": [
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"neurogenic helix-loop-helix protein NEUROD"
],
"gene_symbol": "NEUROD1",
"hgnc_symbol": "NEUROD1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
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"ensembl_id": "ENSG00000162992"
}
},
"GRch38": {
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"location": "2:181673088-181680876",
"ensembl_id": "ENSG00000162992"
}
}
},
"hgnc_date_symbol_changed": "1996-03-12"
},
"entity_type": "gene",
"entity_name": "NEUROD1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25477324",
"25684977",
"22784109",
"29521454"
],
"evidence": [
"Expert Review Green",
"NHS GMS",
"RetNet"
],
"phenotypes": [
"Retinitis pigmentosa",
"Retinopathy",
"Permanent neonatal diabetes"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"NMNAT",
"PNAT1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:17877",
"gene_name": "nicotinamide nucleotide adenylyltransferase 1",
"omim_gene": [
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],
"alias_name": null,
"gene_symbol": "NMNAT1",
"hgnc_symbol": "NMNAT1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:10003486-10045559",
"ensembl_id": "ENSG00000173614"
}
},
"GRch38": {
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"location": "1:9943428-9985501",
"ensembl_id": "ENSG00000173614"
}
}
},
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},
"entity_type": "gene",
"entity_name": "NMNAT1",
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"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"28369829"
],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Leber congenital amaurosis 9, 608553"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"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"
},
"entity_type": "gene",
"entity_name": "NPHP1",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"34415307"
],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Eye Disorders"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"NPH3",
"KIAA2000",
"FLJ30691",
"FLJ36696",
"MKS7",
"SLSN3",
"CFAP31"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:7907",
"gene_name": "nephrocystin 3",
"omim_gene": [
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],
"alias_name": [
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"cilia and flagella associated protein 31"
],
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"hgnc_symbol": "NPHP3",
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"ensembl_genes": {
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"82": {
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"ensembl_id": "ENSG00000113971"
}
},
"GRch38": {
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"location": "3:132680609-132722442",
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}
}
},
"hgnc_date_symbol_changed": "2000-01-20"
},
"entity_type": "gene",
"entity_name": "NPHP3",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
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"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."
],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Eye Disorders"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
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"KIAA0673",
"POC10"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:19104",
"gene_name": "nephrocystin 4",
"omim_gene": [
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],
"alias_name": [
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"POC10 centriolar protein homolog (Chlamydomonas)"
],
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"ensembl_genes": {
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}
},
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}
}
},
"hgnc_date_symbol_changed": "2002-10-03"
},
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"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [],
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"Expert Review Green"
],
"phenotypes": [
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],
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"tags": [],
"transcript": null
},
{
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"rd7",
"RP37"
],
"biotype": null,
"hgnc_id": "HGNC:7974",
"gene_name": "nuclear receptor subfamily 2 group E member 3",
"omim_gene": [
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],
"alias_name": null,
"gene_symbol": "NR2E3",
"hgnc_symbol": "NR2E3",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
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"ensembl_id": "ENSG00000031544"
}
},
"GRch38": {
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"location": "15:71792638-71818259",
"ensembl_id": "ENSG00000278570"
}
}
},
"hgnc_date_symbol_changed": "1999-09-16"
},
"entity_type": "gene",
"entity_name": "NR2E3",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
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"Retinitis pigmentosa 37 (AD and AR)",
"Eye Disorders",
"Retinitis pigmentosa",
"Retinitis Pigmentosa, Recessive",
"Enhanced S-cone syndrome, 268100"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
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"RP27",
"NRL-MAF"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8002",
"gene_name": "neural retina leucine zipper",
"omim_gene": [
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],
"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"
},
"entity_type": "gene",
"entity_name": "NRL",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
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"Expert Review Green"
],
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],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CLRP",
"CSNB1A"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8082",
"gene_name": "nyctalopin",
"omim_gene": [
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],
"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",
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}
}
},
"hgnc_date_symbol_changed": "2000-07-31"
},
"entity_type": "gene",
"entity_name": "NYX",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
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"Congenital Stationary Night Blindness, X-linked",
"Night blindness, congenital stationary (complete), 1A, X-linked, 310500"
],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"tags": [],
"transcript": null
},
{
"gene_data": {
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"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"
},
"entity_type": "gene",
"entity_name": "OAT",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Eye Disorders"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"71-7A",
"JBTS10"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2567",
"gene_name": "OFD1, centriole and centriolar satellite protein",
"omim_gene": [
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],
"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"
},
"entity_type": "gene",
"entity_name": "OFD1",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Joubert syndrome 10",
"Eye Disorders",
"?Retinitis pigmentosa 23, 300424Joubert syndrome 10, 300804Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209",
"Retinitis pigmentosa"
],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"tags": [],
"transcript": null
},
{
"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"
},
"entity_type": "gene",
"entity_name": "OPN1LW",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"8213841",
"8666378",
"15094734",
"8792812"
],
"evidence": [
"Expert Review Green",
"NHS GMS"
],
"phenotypes": [
"Blue cone monochromacy, 303700"
],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"OPN1MW1",
"COD5"
],
"biotype": null,
"hgnc_id": "HGNC:4206",
"gene_name": "opsin 1, medium wave sensitive",
"omim_gene": [
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],
"alias_name": [
"cone dystrophy 5 (X-linked)"
],
"gene_symbol": "OPN1MW",
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}
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],
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"Literature"
],
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"retinal dystrophy"
],
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},
{
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],
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"tags": [],
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},
{
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}
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},
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"Expert Review Green"
],
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],
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},
{
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"MGC15631",
"ARMD6",
"CORD11"
],
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"610362"
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"30607024"
],
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"Retinitis pigmentosa 95, OMIM:620102",
"?Macular degeneration, age-related, 6, OMIM:613757"
],
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"tags": [
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},
{
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"D10S65",
"D10S66",
"RP66"
],
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},
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}
}
},
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},
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"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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],
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],
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},
{
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{
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},
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"27486781"
],
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"Expert Review Green",
"Expert list"
],
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"Coats disease",
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"tags": [],
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},
{
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}
},
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"Expert Review Green"
],
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"Leber congenital amaurosis 12, 610612",
"Eye Disorders"
],
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"tags": [],
"transcript": null
},
{
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"LCA13",
"RP53"
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"gene_name": "retinol dehydrogenase 12 (all-trans/9-cis/11-cis)",
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"ensembl_genes": {
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}
},
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}
},
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},
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],
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"Expert Review Green"
],
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"Macular Dystrophy/Degeneration/Stargardt Disease",
"Leber congenital amaurosis 13, 612712",
"Eye Disorders",
"Retinitis Pigmentosa, Recessive",
"Retinitis pigmentosa"
],
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},
{
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"SDR9C5"
],
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],
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"ensembl_genes": {
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},
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}
},
"hgnc_date_symbol_changed": "1996-07-19"
},
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"34726233"
],
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"Expert Review Green"
],
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"Congenital Stationary Night Blindness",
"Fundus albipunctatus, 136880",
"Fundus albipunctatus"
],
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"tags": [],
"transcript": null
},
{
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"FLJ25383",
"Yip2f"
],
"biotype": "protein_coding",
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"gene_name": "receptor accessory protein 6",
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],
"alias_name": [
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"deleted in polyposis 1-like 1"
],
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"ensembl_genes": {
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}
},
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}
}
},
"hgnc_date_symbol_changed": "2006-02-07"
},
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"penetrance": "Complete",
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"28475715",
"28369466",
"27889058",
"24691551"
],
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"NHS GMS",
"RetNet",
"Literature"
],
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"Retinitis pigmentosa 77, 617304"
],
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"tags": [],
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},
{
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],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9990",
"gene_name": "retinal G protein coupled receptor",
"omim_gene": [
"600342"
],
"alias_name": [
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"gene_symbol": "RGR",
"hgnc_symbol": "RGR",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
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"82": {
"location": "10:86004809-86019716",
"ensembl_id": "ENSG00000148604"
}
},
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"90": {
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"ensembl_id": "ENSG00000148604"
}
}
},
"hgnc_date_symbol_changed": "1995-11-28"
},
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"penetrance": "Complete",
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"NHS GMS"
],
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"Retinitis pigmentosa 44, MONDO:0013414"
],
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"tags": [],
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},
{
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"RGS9L",
"MGC26458",
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},
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}
},
"hgnc_date_symbol_changed": "1998-12-15"
},
"entity_type": "gene",
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"Expert Review Green"
],
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"Eye Disorders"
],
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"tags": [],
"transcript": null
},
{
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"CSNBAD1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10012",
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"omim_gene": [
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],
"alias_name": [
"opsin 2, rod pigment"
],
"gene_symbol": "RHO",
"hgnc_symbol": "RHO",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
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"ensembl_id": "ENSG00000163914"
}
},
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"location": "3:129528640-129535169",
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}
},
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},
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"entity_name": "RHO",
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"penetrance": "Complete",
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"Expert Review Green"
],
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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"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
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},
{
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"RIM2",
"OBOE"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:17283",
"gene_name": "regulating synaptic membrane exocytosis 2",
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],
"alias_name": null,
"gene_symbol": "RIMS2",
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"ensembl_genes": {
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"82": {
"location": "8:104512976-105268322",
"ensembl_id": "ENSG00000176406"
}
},
"GRch38": {
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"ensembl_id": "ENSG00000176406"
}
}
},
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},
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"mode_of_pathogenicity": null,
"publications": [
"32470375"
],
"evidence": [
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"Expert list"
],
"phenotypes": [
"Cone-rod synaptic disorder syndrome, congenital nonprogressive, OMIM:618970"
],
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"tags": [],
"transcript": null
},
{
"gene_data": {
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"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": {
"GRch37": {
"82": {
"location": "15:89753100-89764982",
"ensembl_id": "ENSG00000140522"
}
},
"GRch38": {
"90": {
"location": "15:89209869-89221751",
"ensembl_id": "ENSG00000140522"
}
}
},
"hgnc_date_symbol_changed": "1991-05-15"
},
"entity_type": "gene",
"entity_name": "RLBP1",
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"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"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"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
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