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{
"id": 600,
"hash_id": null,
"name": "Rhabdoid tumour predisposition",
"disease_group": "",
"disease_sub_group": "",
"status": "public",
"version": "1.8",
"version_created": "2023-10-26T10:41:19.686859Z",
"relevant_disorders": [
"R358"
],
"stats": {
"number_of_genes": 2,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"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": "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": [
"hSNF2b",
"BRG1",
"BAF190",
"SNF2",
"SWI2",
"SNF2-BETA",
"SNF2LB",
"FLJ39786"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11100",
"gene_name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4",
"omim_gene": [
"603254"
],
"alias_name": [
"SNF2-like 4",
"global transcription activator homologous sequence",
"sucrose nonfermenting-like 4",
"mitotic growth and transcription activator",
"BRM/SWI2-related gene 1",
"homeotic gene regulator",
"nuclear protein GRB1",
"brahma protein-like 1",
"ATP-dependent helicase SMARCA4"
],
"gene_symbol": "SMARCA4",
"hgnc_symbol": "SMARCA4",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:11071598-11176071",
"ensembl_id": "ENSG00000127616"
}
},
"GRch38": {
"90": {
"location": "19:10961001-11065395",
"ensembl_id": "ENSG00000127616"
}
}
},
"hgnc_date_symbol_changed": "1995-07-17"
},
"entity_type": "gene",
"entity_name": "SMARCA4",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Green",
"NHS GMS",
"Expert Review"
],
"phenotypes": [
"{Rhabdoid tumor predisposition syndrome 2}, OMIM:613325",
"Rhabdoid tumor predisposition syndrome 2, MONDO:0013224"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"BAF47",
"Ini1",
"Snr1",
"hSNFS",
"Sfh1p",
"RDT",
"PPP1R144"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11103",
"gene_name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1",
"omim_gene": [
"601607"
],
"alias_name": [
"sucrose nonfermenting, yeast, homolog-like 1",
"integrase interactor 1",
"malignant rhabdoid tumor suppressor",
"protein phosphatase 1, regulatory subunit 144"
],
"gene_symbol": "SMARCB1",
"hgnc_symbol": "SMARCB1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "22:24129150-24176703",
"ensembl_id": "ENSG00000099956"
}
},
"GRch38": {
"90": {
"location": "22:23786963-23834516",
"ensembl_id": "ENSG00000099956"
}
}
},
"hgnc_date_symbol_changed": "1995-08-21"
},
"entity_type": "gene",
"entity_name": "SMARCB1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Green",
"NHS GMS",
"Expert Review"
],
"phenotypes": [
"{Rhabdoid tumor predisposition syndrome 1}, OMIM:609322",
"Rhabdoid tumor predisposition syndrome 1, MONDO:0012252"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
}
],
"strs": [],
"regions": []
}