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{
"id": 559,
"hash_id": null,
"name": "Pigmentary skin disorders",
"disease_group": "",
"disease_sub_group": "",
"status": "public",
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"version_created": "2024-03-26T14:51:20.333416Z",
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"number_of_strs": 0,
"number_of_regions": 1
},
"types": [
{
"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 Rare Disease",
"slug": "gms-rare-disease",
"description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
},
{
"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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"umat",
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},
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"Expert Review Green"
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"transcript": null
},
{
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"MADM",
"HsT18717",
"CD156c"
],
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"hgnc_id": "HGNC:188",
"gene_name": "ADAM metallopeptidase domain 10",
"omim_gene": [
"602192"
],
"alias_name": null,
"gene_symbol": "ADAM10",
"hgnc_symbol": "ADAM10",
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},
"GRch38": {
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}
},
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},
"entity_type": "gene",
"entity_name": "ADAM10",
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"penetrance": null,
"mode_of_pathogenicity": "",
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"23666529"
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"evidence": [
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"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Reticulate acropigmentation of Kitamura"
],
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"tags": [],
"transcript": null
},
{
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"biotype": "protein_coding",
"hgnc_id": "HGNC:225",
"gene_name": "adenosine deaminase, RNA specific",
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"alias_name": null,
"gene_symbol": "ADAR",
"hgnc_symbol": "ADAR",
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"82": {
"location": "1:154554538-154600475",
"ensembl_id": "ENSG00000160710"
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},
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}
},
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},
"entity_type": "gene",
"entity_name": "ADAR",
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"penetrance": null,
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"23001123",
"34418169",
"35076920",
"35832578"
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"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Dyschromatosis symmetrica hereditaria, OMIM:127400",
"Aicardi-Goutieres syndrome 6, OMIM:615010"
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"tags": [],
"transcript": null
},
{
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"TSG24",
"APC1"
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"608473"
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"hgnc_symbol": "ANAPC1",
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"GRch37": {
"82": {
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"ensembl_id": "ENSG00000153107"
}
},
"GRch38": {
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}
},
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},
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"entity_name": "ANAPC1",
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"penetrance": null,
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"evidence": [
"Expert Review Green",
"Literature"
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"phenotypes": [
"Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368"
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"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": []
},
{
"gene_data": {
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"HPS2"
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"hgnc_symbol": "AP3B1",
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"GRch37": {
"82": {
"location": "5:77296349-77590579",
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}
},
"GRch38": {
"90": {
"location": "5:78000525-78294755",
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}
}
},
"hgnc_date_symbol_changed": "2000-09-01"
},
"entity_type": "gene",
"entity_name": "AP3B1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"10024875",
"14566336"
],
"evidence": [
"London North GLH",
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"HERMANSKY-PUDLAK SYNDROME 2",
"Hermansky-Pudlak syndrome",
"HPS2"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:719",
"gene_name": "arylsulfatase E (chondrodysplasia punctata 1)",
"omim_gene": [
"300180"
],
"alias_name": null,
"gene_symbol": "ARSE",
"hgnc_symbol": "ARSE",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:2852699-2886286",
"ensembl_id": "ENSG00000157399"
}
},
"GRch38": {
"90": {
"location": "X:2934632-2968310",
"ensembl_id": "ENSG00000157399"
}
}
},
"hgnc_date_symbol_changed": "1995-04-26"
},
"entity_type": "gene",
"entity_name": "ARSE",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"7720070"
],
"evidence": [
"London North GLH",
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE",
"CDPX1",
"Chondrodysplasia punctata"
],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"tags": [
"new-gene-name"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"hucep-6",
"KIAA0272",
"UCHL2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:950",
"gene_name": "BRCA1 associated protein 1",
"omim_gene": [
"603089"
],
"alias_name": [
"ubiquitin carboxy-terminal hydrolase"
],
"gene_symbol": "BAP1",
"hgnc_symbol": "BAP1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:52435029-52444366",
"ensembl_id": "ENSG00000163930"
}
},
"GRch38": {
"90": {
"location": "3:52401013-52410350",
"ensembl_id": "ENSG00000163930"
}
}
},
"hgnc_date_symbol_changed": "1998-09-17"
},
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"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"21874003"
],
"evidence": [
"London North GLH",
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Tumor predisposition syndrome 1, OMIM:614327",
"{Uveal melanoma, susceptibility to, 2}, OMIM:606661"
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"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"BRAF1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1097",
"gene_name": "B-Raf proto-oncogene, serine/threonine kinase",
"omim_gene": [
"164757"
],
"alias_name": null,
"gene_symbol": "BRAF",
"hgnc_symbol": "BRAF",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:140419127-140624564",
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}
},
"GRch38": {
"90": {
"location": "7:140719327-140924764",
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}
},
"hgnc_date_symbol_changed": "1991-07-16"
},
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"entity_name": "BRAF",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"16474404",
"19206169"
],
"evidence": [
"London North GLH",
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Cardio-facio-cutaneous syndrome",
"Syringocystadenoma papilliferum",
"Melanocytic naevi",
"LPRD3, CARDIOFACIOCUTANEOUS SYNDROME 1",
"CFC1",
"LEOPARD SYNDROME 3"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"RNF53",
"BRCC1",
"PPP1R53",
"FANCS"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1100",
"gene_name": "BRCA1, DNA repair associated",
"omim_gene": [
"113705"
],
"alias_name": [
"BRCA1/BRCA2-containing complex, subunit 1",
"protein phosphatase 1, regulatory subunit 53",
"Fanconi anemia, complementation group S"
],
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"hgnc_symbol": "BRCA1",
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"GRch37": {
"82": {
"location": "17:41196312-41277500",
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},
"GRch38": {
"90": {
"location": "17:43044295-43170245",
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}
},
"hgnc_date_symbol_changed": "1991-02-20"
},
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"evidence": [
"Expert Review Green",
"Expert Review"
],
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"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FAD",
"FAD1",
"BRCC2",
"XRCC11"
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"biotype": "protein_coding",
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],
"alias_name": [
"BRCA1/BRCA2-containing complex, subunit 2"
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"hgnc_symbol": "BRCA2",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "13:32889611-32973805",
"ensembl_id": "ENSG00000139618"
}
},
"GRch38": {
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"location": "13:32315474-32400266",
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}
},
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},
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"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
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"evidence": [
"Expert Review Green",
"Expert Review"
],
"phenotypes": [
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"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"OF",
"BACH1",
"FANCJ"
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"biotype": "protein_coding",
"hgnc_id": "HGNC:20473",
"gene_name": "BRCA1 interacting protein C-terminal helicase 1",
"omim_gene": [
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],
"alias_name": [
"BRCA1/BRCA2-associated helicase 1"
],
"gene_symbol": "BRIP1",
"hgnc_symbol": "BRIP1",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:59758627-59940882",
"ensembl_id": "ENSG00000136492"
}
},
"GRch38": {
"90": {
"location": "17:61681266-61863521",
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}
},
"hgnc_date_symbol_changed": "2003-04-11"
},
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"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
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"evidence": [
"Expert Review Green",
"Expert Review"
],
"phenotypes": [
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"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
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"c-Cbl"
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"alias_name": [
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"hgnc_symbol": "CBL",
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"GRch37": {
"82": {
"location": "11:119076752-119178859",
"ensembl_id": "ENSG00000110395"
}
},
"GRch38": {
"90": {
"location": "11:119206276-119313926",
"ensembl_id": "ENSG00000110395"
}
}
},
"hgnc_date_symbol_changed": "1989-06-30"
},
"entity_type": "gene",
"entity_name": "CBL",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"20619386"
],
"evidence": [
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"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"NSLL",
"NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA",
"Noonan-like disorder"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"PSK-J3"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1773",
"gene_name": "cyclin dependent kinase 4",
"omim_gene": [
"123829"
],
"alias_name": null,
"gene_symbol": "CDK4",
"hgnc_symbol": "CDK4",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:58141510-58149796",
"ensembl_id": "ENSG00000135446"
}
},
"GRch38": {
"90": {
"location": "12:57747727-57756013",
"ensembl_id": "ENSG00000135446"
}
}
},
"hgnc_date_symbol_changed": "1993-07-28"
},
"entity_type": "gene",
"entity_name": "CDK4",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
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"8528263"
],
"evidence": [
"London North GLH",
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
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"Melanoma susceptibility",
"CMM3"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CDK4I",
"p16",
"INK4a",
"MTS1",
"CMM2",
"ARF",
"p19",
"p14",
"INK4",
"p16INK4a",
"p19Arf",
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},
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}
},
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"evidence": [
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"phenotypes": [
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"tags": [],
"transcript": null
},
{
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},
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}
},
"hgnc_date_symbol_changed": "2002-05-08"
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"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
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],
"evidence": [
"London North GLH",
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
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"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
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"omim_gene": [
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"alias_name": null,
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"hgnc_symbol": "COX7B",
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"82": {
"location": "X:77154935-77162870",
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},
"GRch38": {
"90": {
"location": "X:77899438-77907373",
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}
},
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{
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"HERMANSKY-PUDLAK SYNDROME 1",
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{
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"Costello syndrome",
"Phakomatosis pigmentokeratotica",
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"Schimmelpenning syndrome",
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},
{
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{
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{
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},
{
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},
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"CHEDIAK-HIGASHI SYNDROME",
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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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