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{
"id": 214,
"hash_id": "55a3aac122c1fc6710839b7d",
"name": "Catecholaminergic polymorphic VT",
"disease_group": "Cardiovascular disorders",
"disease_sub_group": "Cardiac arrhythmia",
"status": "public",
"version": "4.6",
"version_created": "2024-05-01T12:51:59.349560Z",
"relevant_disorders": [
"Catecholaminergic Polymorphic Ventricular Tachycardia",
"R129"
],
"stats": {
"number_of_genes": 10,
"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",
"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": [
"CAMI",
"PHKD",
"DD132"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1442",
"gene_name": "calmodulin 1",
"omim_gene": [
"114180"
],
"alias_name": [
"prepro-calmodulin 1",
"phosphorylase kinase subunit delta"
],
"gene_symbol": "CALM1",
"hgnc_symbol": "CALM1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "14:90862846-90874605",
"ensembl_id": "ENSG00000198668"
}
},
"GRch38": {
"90": {
"location": "14:90396502-90408261",
"ensembl_id": "ENSG00000198668"
}
}
},
"hgnc_date_symbol_changed": "1991-06-05"
},
"entity_type": "gene",
"entity_name": "CALM1",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"27761157",
"19121813"
],
"evidence": [
"South West GLH",
"London South GLH",
"North West GLH",
"Expert Review Green",
"UKGTN",
"Expert list",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Ventricular tachycardia, catecholaminergic polymorphic, 4, OMIM:614916"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"PHKD",
"CAMII"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1445",
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"114182"
],
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"prepro-calmodulin 2",
"phosphorylase kinase subunit delta"
],
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"hgnc_symbol": "CALM2",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:47387221-47403740",
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}
},
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"90": {
"location": "2:47160082-47176601",
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}
},
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},
"entity_type": "gene",
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"penetrance": "Complete",
"mode_of_pathogenicity": "",
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"24917665",
"27100291",
"27114410",
"33200177"
],
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"South West GLH",
"London South GLH",
"Expert Review Green",
"Oxford Medical Genetics Laboratory"
],
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"Long QT syndrome 15, OMIM:616249",
"long QT syndrome 15, MONDO:0014550"
],
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"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"PHKD"
],
"biotype": "protein_coding",
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],
"alias_name": [
"prepro-calmodulin 3",
"phosphorylase kinase subunit delta"
],
"gene_symbol": "CALM3",
"hgnc_symbol": "CALM3",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:47104331-47114050",
"ensembl_id": "ENSG00000160014"
}
},
"GRch38": {
"90": {
"location": "19:46601074-46610793",
"ensembl_id": "ENSG00000160014"
}
}
},
"hgnc_date_symbol_changed": "1991-06-05"
},
"entity_type": "gene",
"entity_name": "CALM3",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"27516456"
],
"evidence": [
"Expert Review Green",
"South West GLH",
"London South GLH",
"Oxford Medical Genetics Laboratory"
],
"phenotypes": [
"?Ventricular tachycardia, catecholaminergic polymorphic 6, OMIM:618782"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"PDIB2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1513",
"gene_name": "calsequestrin 2",
"omim_gene": [
"114251"
],
"alias_name": null,
"gene_symbol": "CASQ2",
"hgnc_symbol": "CASQ2",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:116242628-116311402",
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}
},
"GRch38": {
"90": {
"location": "1:115700007-115768781",
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}
}
},
"hgnc_date_symbol_changed": "1992-11-05"
},
"entity_type": "gene",
"entity_name": "CASQ2",
"confidence_level": "3",
"penetrance": "Complete",
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"publications": [
"27761157",
"19121813",
"16908766"
],
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"South West GLH",
"London South GLH",
"North West GLH",
"Expert Review Green",
"UKGTN",
"Expert list",
"Radboud University Medical Center, Nijmegen",
"Illumina TruGenome Clinical Sequencing Services"
],
"phenotypes": [
"Ventricular tachycardia, catecholaminergic polymorphic, 2, OMIM:611938"
],
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"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"ARVC2",
"VTSIP"
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"biotype": "protein_coding",
"hgnc_id": "HGNC:10484",
"gene_name": "ryanodine receptor 2",
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"180902"
],
"alias_name": null,
"gene_symbol": "RYR2",
"hgnc_symbol": "RYR2",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
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"ensembl_id": "ENSG00000198626"
}
},
"GRch38": {
"90": {
"location": "1:237042205-237833988",
"ensembl_id": "ENSG00000198626"
}
}
},
"hgnc_date_symbol_changed": "1989-12-07"
},
"entity_type": "gene",
"entity_name": "RYR2",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"27761157",
"19121813",
"16391617"
],
"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",
"Illumina TruGenome Clinical Sequencing Services",
"UKGTN",
"Emory Genetics Laboratory"
],
"phenotypes": [
"Ventricular tachycardia, catecholaminergic polymorphic, 1, OMIM:604772"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"GPSN2L",
"SRD5A2L2",
"DKFZp313D0829",
"DKFZp313B2333",
"TERL"
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"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"
},
"entity_type": "gene",
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"32173957",
"33367594"
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"evidence": [
"NHS GMS",
"Expert Review Green",
"South West GLH"
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],
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"tags": [],
"transcript": null
},
{
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"alias": [],
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"603283"
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"gene_symbol": "TRDN",
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"ensembl_genes": {
"GRch37": {
"82": {
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},
"GRch38": {
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"location": "6:123216339-123637093",
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}
},
"hgnc_date_symbol_changed": "1999-12-17"
},
"entity_type": "gene",
"entity_name": "TRDN",
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"penetrance": "Complete",
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"publications": [
"26200674"
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"South West GLH",
"London South GLH",
"North West GLH",
"Expert Review Green",
"UKGTN",
"Expert list",
"Radboud University Medical Center, Nijmegen",
"Illumina TruGenome Clinical Sequencing Services"
],
"phenotypes": [
"Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, OMIM:615441"
],
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"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
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},
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}
},
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},
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"confidence_level": "1",
"penetrance": "Complete",
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"Expert Review Red",
"Expert list"
],
"phenotypes": [
"catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990"
],
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"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"minK",
"ISK",
"JLNS2",
"LQT5"
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"176261"
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},
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}
},
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"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
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},
{
"gene_data": {
"alias": [
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},
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}
},
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},
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"publications": [
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],
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"South West GLH",
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],
"phenotypes": [
"catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
}
],
"strs": [],
"regions": []
}