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"hgnc_symbol": "CAV3",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:8775486-8883492",
"ensembl_id": "ENSG00000182533"
}
},
"GRch38": {
"90": {
"location": "3:8733800-8841808",
"ensembl_id": "ENSG00000182533"
}
}
},
"hgnc_date_symbol_changed": "1998-05-14"
},
"penetrance": "Complete",
"phenotypes": [
"Long QT syndrome-9"
],
"transcript": null,
"entity_name": "CAV3",
"entity_type": "gene",
"publications": [
"17060380"
],
"confidence_level": "1",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"South West GLH",
"Literature"
],
"gene_data": {
"alias": [
"MiRP2",
"HOKPP"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6243",
"gene_name": "potassium voltage-gated channel subfamily E regulatory subunit 3",
"omim_gene": [
"604433"
],
"alias_name": null,
"gene_symbol": "KCNE3",
"hgnc_symbol": "KCNE3",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:74165886-74178774",
"ensembl_id": "ENSG00000175538"
}
},
"GRch38": {
"90": {
"location": "11:74454841-74467729",
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}
}
},
"hgnc_date_symbol_changed": "1999-05-11"
},
"penetrance": "Complete",
"phenotypes": [
"Long QT syndrome",
"Brugada syndrome"
],
"transcript": null,
"entity_name": "KCNE3",
"entity_type": "gene",
"publications": [
"19306396",
"doi:10.1007/s12265-016-9673-5",
"19306396"
],
"confidence_level": "1",
"mode_of_inheritance": "Unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red",
"South West GLH",
"London South GLH",
"North West GLH",
"UKGTN",
"Expert list",
"Illumina TruGenome Clinical Sequencing Services",
"Radboud University Medical Center, Nijmegen"
],
"gene_data": {
"alias": [
"Kir3.4",
"CIR",
"KATP1",
"GIRK4",
"LQT13"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6266",
"gene_name": "potassium voltage-gated channel subfamily J member 5",
"omim_gene": [
"600734"
],
"alias_name": null,
"gene_symbol": "KCNJ5",
"hgnc_symbol": "KCNJ5",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:128761251-128790930",
"ensembl_id": "ENSG00000120457"
}
},
"GRch38": {
"90": {
"location": "11:128891356-128921035",
"ensembl_id": "ENSG00000120457"
}
}
},
"hgnc_date_symbol_changed": "1995-04-13"
},
"penetrance": "Complete",
"phenotypes": [
"Hyperaldosteronism, familial, type III (613677)",
"Long QT syndrome 13 (613485)",
"Long QT syndrome 13"
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"transcript": null,
"entity_name": "KCNJ5",
"entity_type": "gene",
"publications": [
"19716085"
],
"confidence_level": "1",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"South West GLH",
"Expert list"
],
"gene_data": {
"alias": [
"KIAA0464",
"CAPON"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:16859",
"gene_name": "nitric oxide synthase 1 adaptor protein",
"omim_gene": [
"605551"
],
"alias_name": [
"C-terminal PDZ domain ligand of neuronal nitric oxide synthase"
],
"gene_symbol": "NOS1AP",
"hgnc_symbol": "NOS1AP",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:162039564-162353321",
"ensembl_id": "ENSG00000198929"
}
},
"GRch38": {
"90": {
"location": "1:162069774-162370475",
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}
}
},
"hgnc_date_symbol_changed": "2005-06-15"
},
"penetrance": "Complete",
"phenotypes": [],
"transcript": null,
"entity_name": "NOS1AP",
"entity_type": "gene",
"publications": [],
"confidence_level": "1",
"mode_of_inheritance": "Unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"South West GLH",
"London South GLH",
"Literature"
],
"gene_data": {
"alias": [
"ARVC2",
"VTSIP"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10484",
"gene_name": "ryanodine receptor 2",
"omim_gene": [
"180902"
],
"alias_name": null,
"gene_symbol": "RYR2",
"hgnc_symbol": "RYR2",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:237205505-237997288",
"ensembl_id": "ENSG00000198626"
}
},
"GRch38": {
"90": {
"location": "1:237042205-237833988",
"ensembl_id": "ENSG00000198626"
}
}
},
"hgnc_date_symbol_changed": "1989-12-07"
},
"penetrance": "Complete",
"phenotypes": [
"Long QT syndrome",
"Catecholaminergic polymorphic ventricular tachycardia",
"Arrhythmogenic right ventricular cardiomyopathy",
""
],
"transcript": null,
"entity_name": "RYR2",
"entity_type": "gene",
"publications": [
"21126784",
"doi:10.1007/s12265-016-9673-5"
],
"confidence_level": "1",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"South West GLH",
"London South GLH",
"North West GLH",
"Expert Review Red",
"UKGTN",
"Expert list",
"Emory Genetics Laboratory",
"Illumina TruGenome Clinical Sequencing Services",
"Radboud University Medical Center, Nijmegen"
],
"gene_data": {
"alias": [
"LQT10"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10592",
"gene_name": "sodium voltage-gated channel beta subunit 4",
"omim_gene": [
"608256"
],
"alias_name": null,
"gene_symbol": "SCN4B",
"hgnc_symbol": "SCN4B",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:118004092-118023603",
"ensembl_id": "ENSG00000177098"
}
},
"GRch38": {
"90": {
"location": "11:118133377-118152888",
"ensembl_id": "ENSG00000177098"
}
}
},
"hgnc_date_symbol_changed": "1990-09-30"
},
"penetrance": "Complete",
"phenotypes": [
"Long QT syndrome-10",
"Long QT syndrome-10 (611819)"
],
"transcript": null,
"entity_name": "SCN4B",
"entity_type": "gene",
"publications": [
"17592081"
],
"confidence_level": "1",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": "Other - please provide details in the comments"
},
{
"tags": [],
"evidence": [
"Expert Review Red",
"South West GLH",
"London South GLH",
"North West GLH",
"UKGTN",
"Expert list",
"Emory Genetics Laboratory",
"Illumina TruGenome Clinical Sequencing Services"
],
"gene_data": {
"alias": [
"TACIP1",
"LQT12"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11167",
"gene_name": "syntrophin alpha 1",
"omim_gene": [
"601017"
],
"alias_name": [
"pro-TGF-alpha cytoplasmic domain-interacting protein 1",
"dystrophin-associated protein A1, 59kDa, acidic component"
],
"gene_symbol": "SNTA1",
"hgnc_symbol": "SNTA1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "20:31995761-32031698",
"ensembl_id": "ENSG00000101400"
}
},
"GRch38": {
"90": {
"location": "20:33407955-33443892",
"ensembl_id": "ENSG00000101400"
}
}
},
"hgnc_date_symbol_changed": "1994-12-14"
},
"penetrance": "Complete",
"phenotypes": [
"Long QT syndrome 12 612955",
"Long QT syndrome 12 (612955)"
],
"transcript": null,
"entity_name": "SNTA1",
"entity_type": "gene",
"publications": [
"19684871"
],
"confidence_level": "1",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS"
],
"gene_data": {
"alias": [
"GPSN2L",
"SRD5A2L2",
"DKFZp313D0829",
"DKFZp313B2333",
"TERL"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:27365",
"gene_name": "trans-2,3-enoyl-CoA reductase like",
"omim_gene": [
"617242"
],
"alias_name": [
"glycoprotein, synaptic 2-like"
],
"gene_symbol": "TECRL",
"hgnc_symbol": "TECRL",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:65140975-65275186",
"ensembl_id": "ENSG00000205678"
}
},
"GRch38": {
"90": {
"location": "4:64275257-64409468",
"ensembl_id": "ENSG00000205678"
}
}
},
"hgnc_date_symbol_changed": "2009-07-21"
},
"penetrance": null,
"phenotypes": [
"Ventricular tachycardia, catecholaminergic polymorphic, 3, 614021"
],
"transcript": [],
"entity_name": "TECRL",
"entity_type": "gene",
"publications": [],
"confidence_level": "1",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": null
}
],
"stats": {
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"number_of_genes": 22,
"number_of_regions": 0
},
"types": [
{
"name": "Rare Disease 100K",
"slug": "rare-disease-100k",
"description": "Rare Disease 100K"
},
{
"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."
}
],
"status": "public",
"hash_id": "55a3b19722c1fc6710839b80",
"regions": [],
"version": "2.20",
"disease_group": "Cardiovascular disorders",
"version_created": "2020-08-20T13:36:11.631827Z",
"disease_sub_group": "Cardiac arrhythmia",
"relevant_disorders": [
"Long QT",
"R127"
],
"signed_off": "2020-08-20"
}