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{
"id": 224,
"hash_id": "58c7f6858f620328d77ce711",
"name": "Short QT syndrome",
"disease_group": "",
"disease_sub_group": "",
"status": "public",
"version": "3.10",
"version_created": "2024-01-22T16:16:50.945319Z",
"relevant_disorders": [
"R130"
],
"stats": {
"number_of_genes": 40,
"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": [
"Cav1.2",
"CACH2",
"CACN2",
"TS",
"LQT8"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1390",
"gene_name": "calcium voltage-gated channel subunit alpha1 C",
"omim_gene": [
"114205"
],
"alias_name": null,
"gene_symbol": "CACNA1C",
"hgnc_symbol": "CACNA1C",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:2079952-2802108",
"ensembl_id": "ENSG00000151067"
}
},
"GRch38": {
"90": {
"location": "12:1970786-2697950",
"ensembl_id": "ENSG00000151067"
}
}
},
"hgnc_date_symbol_changed": "1991-01-30"
},
"entity_type": "gene",
"entity_name": "CACNA1C",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"24291113",
"16301704",
"30027834",
"30279520",
"17224476",
"28427417",
"28490369",
"29759541",
"29697308"
],
"evidence": [
"West Midlands, Oxford and Wessex GLH",
"South West GLH",
"London South GLH",
"North West GLH",
"Brugada syndrome (Version 1.7)",
"UKGTN",
"Expert Review Green",
"Long QT syndrome (Version 1.5)",
"Emory Genetics Laboratory",
"Literature"
],
"phenotypes": [
"Timothy syndrome, OMIM:601005",
"Timothy syndrome, MONDO:0010979",
"Long QT syndrome 8, OMIM:618447",
"long qt syndrome 8, MONDO:0032756",
"Brugada syndrome 3, OMIM:611875",
"Brugada syndrome 3, MONDO:0012742",
"Short QT",
"CACNA1C-related disorder"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"Kv11.1",
"HERG",
"erg1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6251",
"gene_name": "potassium voltage-gated channel subfamily H member 2",
"omim_gene": [
"152427"
],
"alias_name": null,
"gene_symbol": "KCNH2",
"hgnc_symbol": "KCNH2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:150642049-150675403",
"ensembl_id": "ENSG00000055118"
}
},
"GRch38": {
"90": {
"location": "7:150944961-150978315",
"ensembl_id": "ENSG00000055118"
}
}
},
"hgnc_date_symbol_changed": "1993-03-22"
},
"entity_type": "gene",
"entity_name": "KCNH2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "Other",
"publications": [
"16226079",
"16301704",
"4676148",
"15828882",
"19340359",
"18692916",
"21130771",
"25974115",
"29016797",
"29759541",
"16011830",
"19439805",
"22194679",
"16039272",
"29085299"
],
"evidence": [
"West Midlands, Oxford and Wessex GLH",
"South West GLH",
"London South GLH",
"North West GLH",
"Long QT syndrome (Version 1.5)",
"Brugada syndrome (Version 1.7)",
"Expert Review Green",
"Emory Genetics Laboratory",
"Radboud University Medical Center, Nijmegen",
"UKGTN",
"Literature"
],
"phenotypes": [
"Brugada",
"Short QT syndrome 1 (609620)",
"ventricular fibrillation",
"cardiac arrest",
"Short QT syndrome 1 609620",
"Long QT syndrome-2 (613688)",
"short qt",
"atrial fibrillation"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"Kir2.1",
"IRK1",
"LQT7"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6263",
"gene_name": "potassium voltage-gated channel subfamily J member 2",
"omim_gene": [
"600681"
],
"alias_name": null,
"gene_symbol": "KCNJ2",
"hgnc_symbol": "KCNJ2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:68164814-68176189",
"ensembl_id": "ENSG00000123700"
}
},
"GRch38": {
"90": {
"location": "17:70168673-70180048",
"ensembl_id": "ENSG00000123700"
}
}
},
"hgnc_date_symbol_changed": "1994-02-08"
},
"entity_type": "gene",
"entity_name": "KCNJ2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "Other",
"publications": [
"16226079",
"16301704",
"15761194",
"22155372",
"23440193",
"24794859",
"22311718",
"22308236",
"19285083",
"19710529",
"25691870"
],
"evidence": [
"West Midlands, Oxford and Wessex GLH",
"South West GLH",
"London South GLH",
"North West GLH",
"Radboud University Medical Center, Nijmegen",
"UKGTN",
"Expert Review Green",
"Long QT syndrome (Version 1.5)",
"Emory Genetics Laboratory",
"Literature"
],
"phenotypes": [
"Short QT syndrome 3, OMIM:609622",
"Short QT syndrome type 3, MONDO:0012314",
"Atrial fibrillation, familial, 9, OMIM:613980",
"Atrial fibrillation, familial, 9, MONDO:0013513",
"Andersen syndrome, OMIM:170390",
"Andersen-Tawil syndrome, MONDO:0008222"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"Kv7.1",
"KCNA8",
"KVLQT1",
"JLNS1",
"LQT1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6294",
"gene_name": "potassium voltage-gated channel subfamily Q member 1",
"omim_gene": [
"607542"
],
"alias_name": [
"Jervell and Lange-Nielsen syndrome 1"
],
"gene_symbol": "KCNQ1",
"hgnc_symbol": "KCNQ1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:2465914-2870339",
"ensembl_id": "ENSG00000053918"
}
},
"GRch38": {
"90": {
"location": "11:2444684-2849109",
"ensembl_id": "ENSG00000053918"
}
}
},
"hgnc_date_symbol_changed": "1997-02-05"
},
"entity_type": "gene",
"entity_name": "KCNQ1",
"confidence_level": "3",
"penetrance": "unknown",
"mode_of_pathogenicity": null,
"publications": [
"16226079",
"16301704",
"15159330",
"16109388",
"26168993",
"26346102",
"25974115",
"29697308"
],
"evidence": [
"West Midlands, Oxford and Wessex GLH",
"Expert Review Green",
"South West GLH",
"London South GLH",
"North West GLH",
"Radboud University Medical Center, Nijmegen",
"UKGTN",
"Long QT syndrome (Version 1.5)",
"Emory Genetics Laboratory",
"Other"
],
"phenotypes": [
"Short QT syndrome 2, OMIM:609621",
"Long QT syndrome-1, OMIM:192500",
"Atrial fibrillation, familial, 3, OMIM:607554"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"lncRNA-N3"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1399",
"gene_name": "calcium voltage-gated channel auxiliary subunit alpha2delta 1",
"omim_gene": [
"114204"
],
"alias_name": null,
"gene_symbol": "CACNA2D1",
"hgnc_symbol": "CACNA2D1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:81575760-82073114",
"ensembl_id": "ENSG00000153956"
}
},
"GRch38": {
"90": {
"location": "7:81946444-82443798",
"ensembl_id": "ENSG00000153956"
}
}
},
"hgnc_date_symbol_changed": "1992-03-27"
},
"entity_type": "gene",
"entity_name": "CACNA2D1",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"30420954",
"19862833",
"16301704"
],
"evidence": [
"Expert Review Amber",
"South West GLH",
"London South GLH",
"North West GLH",
"UKGTN",
"Brugada syndrome (Version 1.7)",
"Literature"
],
"phenotypes": [
"short qt",
"Brugada syndrome",
"aborted sudden death",
"Short QT syndrome 6"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [
"watchlist"
],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1402",
"gene_name": "calcium voltage-gated channel auxiliary subunit beta 2",
"omim_gene": [
"600003"
],
"alias_name": null,
"gene_symbol": "CACNB2",
"hgnc_symbol": "CACNB2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:18429606-18830798",
"ensembl_id": "ENSG00000165995"
}
},
"GRch38": {
"90": {
"location": "10:18140677-18541869",
"ensembl_id": "ENSG00000165995"
}
}
},
"hgnc_date_symbol_changed": "1992-03-27"
},
"entity_type": "gene",
"entity_name": "CACNB2",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"30420954",
"19862833",
"16301704"
],
"evidence": [
"South West GLH",
"London South GLH",
"North West GLH",
"Expert Review Amber",
"UKGTN",
"Brugada syndrome (Version 1.7)",
"Literature"
],
"phenotypes": [
"Brugada syndrome 4 (611876)",
"Short QT syndrome 5",
"brugada syndrome",
"Brugada syndrome 4 611876",
"short qt"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [
"watchlist"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"Nav1.5",
"LQT3",
"HB1",
"HBBD",
"PFHB1",
"IVF",
"HB2",
"HH1",
"SSS1",
"CDCD2",
"CMPD2",
"ICCD"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10593",
"gene_name": "sodium voltage-gated channel alpha subunit 5",
"omim_gene": [
"600163"
],
"alias_name": [
"long QT syndrome 3"
],
"gene_symbol": "SCN5A",
"hgnc_symbol": "SCN5A",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:38589548-38691164",
"ensembl_id": "ENSG00000183873"
}
},
"GRch38": {
"90": {
"location": "3:38548057-38649673",
"ensembl_id": "ENSG00000183873"
}
}
},
"hgnc_date_symbol_changed": "1992-04-10"
},
"entity_type": "gene",
"entity_name": "SCN5A",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"16301704",
"30420954",
"22490985"
],
"evidence": [
"South West GLH",
"North West GLH",
"Expert Review Amber",
"Brugada syndrome (Version 1.7)",
"Long QT syndrome (Version 1.5)",
"Emory Genetics Laboratory",
"Literature"
],
"phenotypes": [
"Ventricular fibrillation, familial, 1 (603829)",
"Brugada syndrome 1 (601144)",
"{Sudden infant death syndrome, susceptibility to} (272120)",
"Brugada syndrome 1 601144",
"Heart block, progressive, type IA (113900)",
"Heart block, nonprogressive (113900)",
"Sick sinus syndrome 1 (608567)",
"Long QT syndrome-3 (603830)",
"Cardiomyopathy, dilated, 1E (601154)",
"Atrial fibrillation, familial, 10 (614022)"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [
"watchlist"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"AE3",
"SLC2C"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11029",
"gene_name": "solute carrier family 4 member 3",
"omim_gene": [
"106195"
],
"alias_name": [
"Anion exchanger 3, neuronal"
],
"gene_symbol": "SLC4A3",
"hgnc_symbol": "SLC4A3",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:220492049-220506702",
"ensembl_id": "ENSG00000114923"
}
},
"GRch38": {
"90": {
"location": "2:219627327-219641980",
"ensembl_id": "ENSG00000114923"
}
}
},
"hgnc_date_symbol_changed": "1994-08-10"
},
"entity_type": "gene",
"entity_name": "SLC4A3",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"29167417",
"29697308"
],
"evidence": [
"Expert Review Amber",
"West Midlands, Oxford and Wessex GLH",
"South West GLH",
"Literature"
],
"phenotypes": [
"short QT",
"ventricular fibrillation",
"cardiac arrest"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"SUR2",
"CMD1O"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:60",
"gene_name": "ATP binding cassette subfamily C member 9",
"omim_gene": [
"601439"
],
"alias_name": [
"sulfonylurea receptor 2"
],
"gene_symbol": "ABCC9",
"hgnc_symbol": "ABCC9",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:21950335-22094336",
"ensembl_id": "ENSG00000069431"
}
},
"GRch38": {
"90": {
"location": "12:21797401-21942529",
"ensembl_id": "ENSG00000069431"
}
}
},
"hgnc_date_symbol_changed": "1999-10-26"
},
"entity_type": "gene",
"entity_name": "ABCC9",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "Other",
"publications": [
"30420954",
"19862833",
"16301704"
],
"evidence": [
"North West GLH",
"Expert Review Red",
"Brugada syndrome (Version 1.7)",
"Literature"
],
"phenotypes": [
"ventricular tachycardia",
"Atrial fibrillation, familial, 12 (614050)",
"Cardiomyopathy, dilated, 1O (608569)",
"short qt",
"atrial fibrillation"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"KIAA0803",
"AKAP350",
"AKAP450",
"CG-NAP",
"YOTIAO",
"HYPERION",
"PRKA9",
"MU-RMS-40.16A",
"PPP1R45",
"LQT11"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:379",
"gene_name": "A-kinase anchoring protein 9",
"omim_gene": [
"604001"
],
"alias_name": [
"A-kinase anchoring protein 450",
"AKAP9-BRAF fusion protein",
"AKAP120-like protein",
"centrosome- and golgi-localized protein kinase N-associated protein",
"protein kinase A anchoring protein 9",
"A-kinase anchor protein, 350kDa",
"protein phosphatase 1, regulatory subunit 45",
"yotiao"
],
"gene_symbol": "AKAP9",
"hgnc_symbol": "AKAP9",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:91570181-91739987",
"ensembl_id": "ENSG00000127914"
}
},
"GRch38": {
"90": {
"location": "7:91940867-92110673",
"ensembl_id": "ENSG00000127914"
}
}
},
"hgnc_date_symbol_changed": "1999-09-16"
},
"entity_type": "gene",
"entity_name": "AKAP9",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"30420954",
"19862833",
"16301704"
],
"evidence": [
"North West GLH",
"Emory Genetics Laboratory",
"Long QT syndrome (Version 1.5)"
],
"phenotypes": [
"Long QT syndrome-11 (611820)",
"?Long QT syndrome-11 611820"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"KCR1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:31088",
"gene_name": "ALG10B, alpha-1,2-glucosyltransferase",
"omim_gene": null,
"alias_name": [
"potassium channel regulator 1",
"dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"
],
"gene_symbol": "ALG10B",
"hgnc_symbol": "ALG10B",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:38710380-38717784",
"ensembl_id": "ENSG00000175548"
}
},
"GRch38": {
"90": {
"location": "12:38316578-38329728",
"ensembl_id": "ENSG00000175548"
}
}
},
"hgnc_date_symbol_changed": "2004-11-30"
},
"entity_type": "gene",
"entity_name": "ALG10B",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"15280551"
],
"evidence": [
"Other"
],
"phenotypes": [
"{Acquired long QT syndrome, reduced susceptibility to} OMIM:613688"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": []
},
{
"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"
}
},
"GRch38": {
"90": {
"location": "4:112818109-113383740",
"ensembl_id": "ENSG00000145362"
}
}
},
"hgnc_date_symbol_changed": "1991-06-04"
},
"entity_type": "gene",
"entity_name": "ANK2",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"30420954",
"19862833",
"16301704"
],
"evidence": [
"North West GLH",
"Brugada syndrome (Version 1.7)",
"Long QT syndrome (Version 1.5)",
"Emory Genetics Laboratory"
],
"phenotypes": [
"Long QT syndrome 4 (600919)",
"Long QT syndrome 4 600919",
"Cardiac arrhythmia, ankyrin-B-related (600919)",
"Cardiac arrhythmia, ankyrin-B-related 600919"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"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": "2017-11-03",
"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": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"30420954",
"19862833",
"16301704"
],
"evidence": [
"North West GLH",
"Emory Genetics Laboratory",
"Long QT syndrome (Version 1.5)"
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