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{
"id": 134,
"hash_id": "55a3876e22c1fc63fec6d0da",
"name": "Arrhythmogenic right ventricular cardiomyopathy",
"disease_group": "Cardiovascular disorders",
"disease_sub_group": "Cardiomyopathy",
"status": "public",
"version": "3.9",
"version_created": "2023-10-26T00:58:11.438473Z",
"relevant_disorders": [
"Arrhythmogenic cardiomyopathy",
"R133"
],
"stats": {
"number_of_genes": 20,
"number_of_strs": 0,
"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 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": "Component Of Super Panel",
"slug": "component-of-super-panel",
"description": "This panel is a component of a Super Panel"
},
{
"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."
}
],
"genes": [
{
"gene_data": {
"alias": [
"CMD1I",
"CSM1",
"CSM2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2770",
"gene_name": "desmin",
"omim_gene": [
"125660"
],
"alias_name": [
"intermediate filament protein"
],
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"hgnc_symbol": "DES",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:220283099-220291461",
"ensembl_id": "ENSG00000175084"
}
},
"GRch38": {
"90": {
"location": "2:219418377-219426739",
"ensembl_id": "ENSG00000175084"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "DES",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"29567486",
"23168288",
"30370089",
"20829228",
"25921558",
"29212896"
],
"evidence": [
"South West GLH",
"London South GLH",
"Expert Review Green",
"UKGTN",
"Expert list"
],
"phenotypes": [
"Cardiomyopathy, dilated, 1I (604765)",
"Myopathy, myofibrillar, 1 (601419)",
"Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CDHF2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3036",
"gene_name": "desmocollin 2",
"omim_gene": [
"125645"
],
"alias_name": null,
"gene_symbol": "DSC2",
"hgnc_symbol": "DSC2",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "18:28645940-28682378",
"ensembl_id": "ENSG00000134755"
}
},
"GRch38": {
"90": {
"location": "18:31058840-31102415",
"ensembl_id": "ENSG00000134755"
}
}
},
"hgnc_date_symbol_changed": "1997-05-29"
},
"entity_type": "gene",
"entity_name": "DSC2",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
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"27532257",
"23500315",
"29567486"
],
"evidence": [
"South West GLH",
"London South GLH",
"North West GLH",
"Expert Review Green",
"Expert list",
"UKGTN",
"Emory Genetics Laboratory",
"Illumina TruGenome Clinical Sequencing Services",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Arrhythmogenic right ventricular dysplasia 11",
"Arrhythmogenic right ventricular dysplasia 11 (610476)",
"Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair",
"Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476)"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CDHF5"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3049",
"gene_name": "desmoglein 2",
"omim_gene": [
"125671"
],
"alias_name": null,
"gene_symbol": "DSG2",
"hgnc_symbol": "DSG2",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "18:29078006-29128971",
"ensembl_id": "ENSG00000046604"
}
},
"GRch38": {
"90": {
"location": "18:31498043-31549008",
"ensembl_id": "ENSG00000046604"
}
}
},
"hgnc_date_symbol_changed": "1991-11-15"
},
"entity_type": "gene",
"entity_name": "DSG2",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"27532257",
"23500315",
"29567486"
],
"evidence": [
"South West GLH",
"London South GLH",
"North West GLH",
"Expert Review Green",
"Expert list",
"Radboud University Medical Center, Nijmegen",
"Emory Genetics Laboratory",
"Illumina TruGenome Clinical Sequencing Services",
"UKGTN"
],
"phenotypes": [
"Cardiomyopathy, dilated, 1BB (612877)",
"Arrhythmogenic right ventricular dysplasia 10",
"Arrhythmogenic right ventricular dysplasia 10 (610193)"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"KPPS2",
"PPKS2",
"DPI",
"DPII"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3052",
"gene_name": "desmoplakin",
"omim_gene": [
"125647"
],
"alias_name": null,
"gene_symbol": "DSP",
"hgnc_symbol": "DSP",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:7541808-7586950",
"ensembl_id": "ENSG00000096696"
}
},
"GRch38": {
"90": {
"location": "6:7541575-7586717",
"ensembl_id": "ENSG00000096696"
}
}
},
"hgnc_date_symbol_changed": "1991-03-04"
},
"entity_type": "gene",
"entity_name": "DSP",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"27532257",
"23500315",
"35348702"
],
"evidence": [
"South West GLH",
"London South GLH",
"North West GLH",
"Expert Review Green",
"Expert list",
"Radboud University Medical Center, Nijmegen",
"UKGTN",
"Emory Genetics Laboratory",
"Illumina TruGenome Clinical Sequencing Services"
],
"phenotypes": [
"Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD)",
"Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR)",
"Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD)"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"ABP-280",
"ABPL"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3756",
"gene_name": "filamin C",
"omim_gene": [
"102565"
],
"alias_name": [
"actin binding protein 280",
"gamma filamin"
],
"gene_symbol": "FLNC",
"hgnc_symbol": "FLNC",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:128470431-128499328",
"ensembl_id": "ENSG00000128591"
}
},
"GRch38": {
"90": {
"location": "7:128830377-128859274",
"ensembl_id": "ENSG00000128591"
}
}
},
"hgnc_date_symbol_changed": "1993-08-24"
},
"entity_type": "gene",
"entity_name": "FLNC",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"27908349",
"26666891",
"31924696"
],
"evidence": [
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Cardiomyopathy, familial hypertrophic, 26, OMIM:617047",
"Cardiomyopathy, familial restrictive 5, OMIM:617047",
"Hypertrophic cardiomyopathy 26, MONDO:0014883"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"DP3",
"PDGB",
"PKGB",
"DPIII"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6207",
"gene_name": "junction plakoglobin",
"omim_gene": [
"173325"
],
"alias_name": null,
"gene_symbol": "JUP",
"hgnc_symbol": "JUP",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:39775692-39943183",
"ensembl_id": "ENSG00000173801"
}
},
"GRch38": {
"90": {
"location": "17:41754604-41786931",
"ensembl_id": "ENSG00000173801"
}
}
},
"hgnc_date_symbol_changed": "1991-03-04"
},
"entity_type": "gene",
"entity_name": "JUP",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"27532257",
"23500315"
],
"evidence": [
"South West GLH",
"London South GLH",
"North West GLH",
"Expert Review Green",
"UKGTN",
"Expert list",
"Radboud University Medical Center, Nijmegen",
"Emory Genetics Laboratory",
"Illumina TruGenome Clinical Sequencing Services"
],
"phenotypes": [
"Naxos disease, OMIM:601214",
"Arrhythmogenic right ventricular dysplasia 12, OMIM:611528"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"HGPS",
"MADA"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6636",
"gene_name": "lamin A/C",
"omim_gene": [
"150330"
],
"alias_name": [
"mandibuloacral dysplasia type A"
],
"gene_symbol": "LMNA",
"hgnc_symbol": "LMNA",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:156052364-156109880",
"ensembl_id": "ENSG00000160789"
}
},
"GRch38": {
"90": {
"location": "1:156082573-156140089",
"ensembl_id": "ENSG00000160789"
}
}
},
"hgnc_date_symbol_changed": "1992-04-09"
},
"entity_type": "gene",
"entity_name": "LMNA",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"35348702"
],
"evidence": [
"Expert Review Green",
"South West GLH",
"London South GLH",
"UKGTN",
"Expert list"
],
"phenotypes": [
"LMNA-related DCM"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9024",
"gene_name": "plakophilin 2",
"omim_gene": [
"602861"
],
"alias_name": null,
"gene_symbol": "PKP2",
"hgnc_symbol": "PKP2",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:32943679-33049774",
"ensembl_id": "ENSG00000057294"
}
},
"GRch38": {
"90": {
"location": "12:32790745-32896840",
"ensembl_id": "ENSG00000057294"
}
}
},
"hgnc_date_symbol_changed": "1997-08-28"
},
"entity_type": "gene",
"entity_name": "PKP2",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"27532257",
"23500315"
],
"evidence": [
"South West GLH",
"London South GLH",
"North West GLH",
"Expert Review Green",
"Eligibility statement prior genetic testing",
"Expert list",
"Radboud University Medical Center, Nijmegen",
"Emory Genetics Laboratory",
"Illumina TruGenome Clinical Sequencing Services",
"UKGTN"
],
"phenotypes": [
"Arrhythmogenic right ventricular dysplasia 9 (609040)",
"Arrhythmogenic right ventricular cardiomyopathy",
"Arrhythmogenic right ventricular dysplasia 9"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CMD1P"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9080",
"gene_name": "phospholamban",
"omim_gene": [
"172405"
],
"alias_name": null,
"gene_symbol": "PLN",
"hgnc_symbol": "PLN",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:118869461-118881893",
"ensembl_id": "ENSG00000198523"
}
},
"GRch38": {
"90": {
"location": "6:118548298-118560730",
"ensembl_id": "ENSG00000198523"
}
}
},
"hgnc_date_symbol_changed": "1991-08-22"
},
"entity_type": "gene",
"entity_name": "PLN",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"22820313",
"28102477",
"23595706",
"23568436",
"24909667",
"25700660",
"30763825",
"28102477"
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"evidence": [
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"South West GLH",
"London South GLH",
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"phenotypes": [
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],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [
"founder-effect"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"MGC3222",
"DKFZp586G1919",
"LUMA"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:28472",
"gene_name": "transmembrane protein 43",
"omim_gene": [
"612048"
],
"alias_name": null,
"gene_symbol": "TMEM43",
"hgnc_symbol": "TMEM43",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:14166440-14185179",
"ensembl_id": "ENSG00000170876"
}
},
"GRch38": {
"90": {
"location": "3:14124940-14143679",
"ensembl_id": "ENSG00000170876"
}
}
},
"hgnc_date_symbol_changed": "2005-01-24"
},
"entity_type": "gene",
"entity_name": "TMEM43",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
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"23812740",
"29567486",
"26840987"
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"Expert Review Green",
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"Illumina TruGenome Clinical Sequencing Services",
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],
"phenotypes": [
"Arrhythmogenic right ventricular dysplasia 5 (604400)",
"Arrhythmogenic right ventricular dysplasia 5",
"Emery-Dreifuss muscular dystrophy 7, AD (614302)"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:493",
"gene_name": "ankyrin 2",
"omim_gene": [
"106410"
],
"alias_name": null,
"gene_symbol": "ANK2",
"hgnc_symbol": "ANK2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:113739265-114304896",
"ensembl_id": "ENSG00000145362"
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},
"GRch38": {
"90": {
"location": "4:112818109-113383740",
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}
},
"hgnc_date_symbol_changed": "1991-06-04"
},
"entity_type": "gene",
"entity_name": "ANK2",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
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"NHS GMS"
],
"phenotypes": [],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
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"CD325"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1759",
"gene_name": "cadherin 2",
"omim_gene": [
"114020"
],
"alias_name": [
"N-cadherin"
],
"gene_symbol": "CDH2",
"hgnc_symbol": "CDH2",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "18:25530930-25757410",
"ensembl_id": "ENSG00000170558"
}
},
"GRch38": {
"90": {
"location": "18:27950966-28177446",
"ensembl_id": "ENSG00000170558"
}
}
},
"hgnc_date_symbol_changed": "1991-09-13"
},
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"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
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"24294380"
],
"evidence": [
"Expert Review Amber",
"Expert list"
],
"phenotypes": [
"Arrhythmogenic right ventricular dysplasia, familial, 14, 618920"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
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"biotype": "protein_coding",
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"82": {
"location": "9:103340361-103350188",
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},
"GRch38": {
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}
},
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},
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"mode_of_pathogenicity": "",
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"evidence": [
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],
"phenotypes": [],
"mode_of_inheritance": "Unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"VR22",
"MGC26194"
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"biotype": "protein_coding",
"hgnc_id": "HGNC:2511",
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"alias_name": [
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},
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"90": {
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}
},
"hgnc_date_symbol_changed": "2000-03-29"
},
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"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [],
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],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
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"alias_name": [
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"82": {
"location": "10:88428206-88495825",
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},
"GRch38": {
"90": {
"location": "10:86668449-86736068",
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