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"omim_gene": [
"605906"
],
"alias_name": [
"cypher",
"oracle",
"Z-band alternatively spliced PDZ motif protein"
],
"gene_symbol": "LDB3",
"hgnc_symbol": "LDB3",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:88428206-88495825",
"ensembl_id": "ENSG00000122367"
}
},
"GRch38": {
"90": {
"location": "10:86668449-86736068",
"ensembl_id": "ENSG00000122367"
}
}
},
"hgnc_date_symbol_changed": "2001-12-04"
},
"penetrance": "Complete",
"phenotypes": [],
"transcript": null,
"entity_name": "LDB3",
"entity_type": "gene",
"publications": [],
"confidence_level": "1",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"London South GLH"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:27424",
"gene_name": "RNA binding motif protein 20",
"omim_gene": [
"613171"
],
"alias_name": null,
"gene_symbol": "RBM20",
"hgnc_symbol": "RBM20",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:112404155-112599227",
"ensembl_id": "ENSG00000203867"
}
},
"GRch38": {
"90": {
"location": "10:110644397-110839469",
"ensembl_id": "ENSG00000203867"
}
}
},
"hgnc_date_symbol_changed": "2004-04-07"
},
"penetrance": null,
"phenotypes": [
"Cardiomyopathy, dilated, 1DD 613172"
],
"transcript": null,
"entity_name": "RBM20",
"entity_type": "gene",
"publications": [
"29650543",
"22466703",
"22561820",
"30482687"
],
"confidence_level": "1",
"mode_of_inheritance": "",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"South West GLH",
"London South GLH",
"Literature"
],
"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": "2017-11-03T00:00:00",
"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"
},
"penetrance": "Complete",
"phenotypes": [
"Arrhythmogenic right ventricular cardiomyopathy",
"Long QT syndrome",
"Brugada syndrome",
"Dilated cardiomyopathy",
"Arrhythmogenic right ventricular cardiomyopathy"
],
"transcript": null,
"entity_name": "SCN5A",
"entity_type": "gene",
"publications": [
"24317018",
"doi:10.1007/s12265-016-9673-5",
"26916278",
"28069705"
],
"confidence_level": "1",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"South West GLH",
"London South GLH",
"Expert Review Red",
"Expert list",
"Radboud University Medical Center, Nijmegen",
"Illumina TruGenome Clinical Sequencing Services"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11769",
"gene_name": "transforming growth factor beta 3",
"omim_gene": [
"190230"
],
"alias_name": [
"prepro-transforming growth factor beta-3"
],
"gene_symbol": "TGFB3",
"hgnc_symbol": "TGFB3",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "14:76424442-76449334",
"ensembl_id": "ENSG00000119699"
}
},
"GRch38": {
"90": {
"location": "14:75958099-75982991",
"ensembl_id": "ENSG00000119699"
}
}
},
"hgnc_date_symbol_changed": "1989-05-10"
},
"penetrance": "Complete",
"phenotypes": [
"Arrhythmogenic right ventricular dysplasia 1"
],
"transcript": null,
"entity_name": "TGFB3",
"entity_type": "gene",
"publications": [],
"confidence_level": "1",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"South West GLH",
"London South GLH",
"Expert Review Red",
"Expert list"
],
"gene_data": {
"alias": [
"CMPD4",
"FLJ32040",
"TMD",
"CMH9",
"LGMD2J",
"MYLK5"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:12403",
"gene_name": "titin",
"omim_gene": [
"188840"
],
"alias_name": null,
"gene_symbol": "TTN",
"hgnc_symbol": "TTN",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:179390716-179695529",
"ensembl_id": "ENSG00000155657"
}
},
"GRch38": {
"90": {
"location": "2:178525989-178830802",
"ensembl_id": "ENSG00000155657"
}
}
},
"hgnc_date_symbol_changed": "1991-06-07"
},
"penetrance": "Complete",
"phenotypes": [
"Cardiomyopathy, dilated, 1G, 604145"
],
"transcript": null,
"entity_name": "TTN",
"entity_type": "gene",
"publications": [
"30535219",
"31251381"
],
"confidence_level": "1",
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
}
],
"stats": {
"number_of_strs": 0,
"number_of_genes": 20,
"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": "55a3876e22c1fc63fec6d0da",
"regions": [],
"version": "2.8",
"disease_group": "Cardiovascular disorders",
"version_created": "2020-08-20T13:40:37.575050Z",
"disease_sub_group": "Cardiomyopathy",
"relevant_disorders": [
"Arrhythmogenic Right Ventricular Cardiomyopathy",
"Arrythmogenic cardiomyopathy",
"R133"
],
"signed_off": null
}