HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"id": 521,
"name": "Inherited renal cancer",
"strs": [],
"genes": [
{
"tags": [],
"evidence": [
"Expert Review Green",
"Expert List",
"UKGTN"
],
"gene_data": {
"alias": [
"hucep-6",
"KIAA0272",
"UCHL2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:950",
"gene_name": "BRCA1 associated protein 1",
"omim_gene": [
"603089"
],
"alias_name": [
"ubiquitin carboxy-terminal hydrolase"
],
"gene_symbol": "BAP1",
"hgnc_symbol": "BAP1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:52435029-52444366",
"ensembl_id": "ENSG00000163930"
}
},
"GRch38": {
"90": {
"location": "3:52401013-52410350",
"ensembl_id": "ENSG00000163930"
}
}
},
"hgnc_date_symbol_changed": "1998-09-17"
},
"penetrance": "Incomplete",
"phenotypes": [
"Malignant mesothelioma after asbestos exposure",
"Uveal melanoma",
"Cutaneous melanoma",
"Meningioma",
"Renal cell carcinoma, usually clear cell type"
],
"transcript": null,
"entity_name": "BAP1",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": null
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Expert List",
"UKGTN"
],
"gene_data": {
"alias": [
"fumarase"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3700",
"gene_name": "fumarate hydratase",
"omim_gene": [
"136850"
],
"alias_name": null,
"gene_symbol": "FH",
"hgnc_symbol": "FH",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:241660903-241683061",
"ensembl_id": "ENSG00000091483"
}
},
"GRch38": {
"90": {
"location": "1:241497603-241519761",
"ensembl_id": "ENSG00000091483"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"penetrance": "Incomplete",
"phenotypes": [
"Uterine leiomyosarcoma (less common)",
"Cutaneous leiomyosarcoma (less common)",
"Renal cell carcinoma, solitary papillary type 2 (about 20% of patients)"
],
"transcript": null,
"entity_name": "FH",
"entity_type": "gene",
"publications": [
"27899189"
],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": null
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Expert List",
"UKGTN"
],
"gene_data": {
"alias": [
"BHD",
"MGC17998",
"MGC23445"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:27310",
"gene_name": "folliculin",
"omim_gene": [
"607273"
],
"alias_name": null,
"gene_symbol": "FLCN",
"hgnc_symbol": "FLCN",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:17115526-17140502",
"ensembl_id": "ENSG00000154803"
}
},
"GRch38": {
"90": {
"location": "17:17212212-17237188",
"ensembl_id": "ENSG00000154803"
}
}
},
"hgnc_date_symbol_changed": "2004-08-05"
},
"penetrance": "Complete",
"phenotypes": [
"Renal carcinoma",
"Parotid oncocytomas",
"Neural tissue tumors",
"Lipomas",
"Angiolipomas"
],
"transcript": null,
"entity_name": "FLCN",
"entity_type": "gene",
"publications": [
"27899189"
],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": null
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Expert List",
"UKGTN"
],
"gene_data": {
"alias": [
"HGFR",
"RCCP2",
"DFNB97"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:7029",
"gene_name": "MET proto-oncogene, receptor tyrosine kinase",
"omim_gene": [
"164860"
],
"alias_name": [
"hepatocyte growth factor receptor"
],
"gene_symbol": "MET",
"hgnc_symbol": "MET",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:116312444-116438440",
"ensembl_id": "ENSG00000105976"
}
},
"GRch38": {
"90": {
"location": "7:116672390-116798386",
"ensembl_id": "ENSG00000105976"
}
}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
"penetrance": "Incomplete",
"phenotypes": [
"hereditary papillary renal carcinoma with type 1 papillary tumors"
],
"transcript": null,
"entity_name": "MET",
"entity_type": "gene",
"publications": [
"27899189"
],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": null
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Expert List",
"UKGTN"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10681",
"gene_name": "succinate dehydrogenase complex iron sulfur subunit B",
"omim_gene": [
"185470"
],
"alias_name": [
"iron-sulfur subunit of complex II",
"succinate dehydrogenase [ubiquinone] iron-sulfur subunit"
],
"gene_symbol": "SDHB",
"hgnc_symbol": "SDHB",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:17345217-17380665",
"ensembl_id": "ENSG00000117118"
}
},
"GRch38": {
"90": {
"location": "1:17018722-17054170",
"ensembl_id": "ENSG00000117118"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"penetrance": "Complete",
"phenotypes": [
"Cowden syndrome 2",
"Gastrointestinal stromal tumor",
"Paraganglioma and gastric stromal sarcoma",
"Paragangliomas 4",
"Pheochromocytoma."
],
"transcript": null,
"entity_name": "SDHB",
"entity_type": "gene",
"publications": [
"27899189"
],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": null
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"Expert List",
"UKGTN"
],
"gene_data": {
"alias": [
"VHL1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:12687",
"gene_name": "von Hippel-Lindau tumor suppressor",
"omim_gene": [
"608537"
],
"alias_name": null,
"gene_symbol": "VHL",
"hgnc_symbol": "VHL",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:10182692-10193904",
"ensembl_id": "ENSG00000134086"
}
},
"GRch38": {
"90": {
"location": "3:10141008-10152220",
"ensembl_id": "ENSG00000134086"
}
}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
"penetrance": "Complete",
"phenotypes": [
"Renal hemangioblastoma",
"Renal cell carcinoma",
"Multiple renal cysts",
"Pheochromocytoma",
"Sporadic cerebellar hemangioblastoma",
"Hypernephroma",
"Pancreatic cancer",
"Paraganglioma",
"Adenocarcinoma of ampulla of Vater"
],
"transcript": null,
"entity_name": "VHL",
"entity_type": "gene",
"publications": [
"27899189"
],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": null
},
{
"tags": [],
"evidence": [
"Expert Review Amber",
"UKGTN"
],
"gene_data": {
"alias": [
"P15",
"MTS2",
"INK4B",
"TP15",
"CDK4I",
"p15INK4b"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1788",
"gene_name": "cyclin dependent kinase inhibitor 2B",
"omim_gene": [
"600431"
],
"alias_name": null,
"gene_symbol": "CDKN2B",
"hgnc_symbol": "CDKN2B",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "9:22002902-22009362",
"ensembl_id": "ENSG00000147883"
}
},
"GRch38": {
"90": {
"location": "9:22002903-22009363",
"ensembl_id": "ENSG00000147883"
}
}
},
"hgnc_date_symbol_changed": "1995-06-14"
},
"penetrance": null,
"phenotypes": [],
"transcript": null,
"entity_name": "CDKN2B",
"entity_type": "gene",
"publications": [
"25873077"
],
"confidence_level": "2",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": null
},
{
"tags": [],
"evidence": [
"Expert Review Amber",
"UKGTN"
],
"gene_data": {
"alias": [
"MI",
"bHLHe32"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:7105",
"gene_name": "melanogenesis associated transcription factor",
"omim_gene": [
"156845"
],
"alias_name": [
"homolog of mouse microphthalmia"
],
"gene_symbol": "MITF",
"hgnc_symbol": "MITF",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:69788586-70017488",
"ensembl_id": "ENSG00000187098"
}
},
"GRch38": {
"90": {
"location": "3:69739435-69968337",
"ensembl_id": "ENSG00000187098"
}
}
},
"hgnc_date_symbol_changed": "1993-10-27"
},
"penetrance": null,
"phenotypes": [],
"transcript": null,
"entity_name": "MITF",
"entity_type": "gene",
"publications": [
"27899189"
],
"confidence_level": "2",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": null
},
{
"tags": [],
"evidence": [
"Expert Review Amber",
"Expert List",
"UKGTN"
],
"gene_data": {
"alias": [
"MMAC1",
"TEP1",
"PTEN1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9588",
"gene_name": "phosphatase and tensin homolog",
"omim_gene": [
"601728"
],
"alias_name": [
"mutated in multiple advanced cancers 1"
],
"gene_symbol": "PTEN",
"hgnc_symbol": "PTEN",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:89622870-89731687",
"ensembl_id": "ENSG00000171862"
}
},
"GRch38": {
"90": {
"location": "10:87863113-87971930",
"ensembl_id": "ENSG00000171862"
}
}
},
"hgnc_date_symbol_changed": "1997-04-21"
},
"penetrance": null,
"phenotypes": [],
"transcript": null,
"entity_name": "PTEN",
"entity_type": "gene",
"publications": [],
"confidence_level": "2",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": null
},
{
"tags": [],
"evidence": [
"Expert Review Amber",
"UKGTN"
],
"gene_data": {
"alias": [
"CYB560",
"cybL"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10682",
"gene_name": "succinate dehydrogenase complex subunit C",
"omim_gene": [
"602413"
],
"alias_name": [
"succinate dehydrogenase cytochrome b560 subunit",
"succinate dehydrgenase cytochrome b",
"large subunit of cytochrome b"
],
"gene_symbol": "SDHC",
"hgnc_symbol": "SDHC",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:161284047-161332984",
"ensembl_id": "ENSG00000143252"
}
},
"GRch38": {
"90": {
"location": "1:161314257-161375340",
"ensembl_id": "ENSG00000143252"
}
}
},
"hgnc_date_symbol_changed": "1997-10-21"
},
"penetrance": null,
"phenotypes": [],
"transcript": null,
"entity_name": "SDHC",
"entity_type": "gene",
"publications": [
"27899189"
],
"confidence_level": "2",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": null
},
{
"tags": [],
"evidence": [
"Expert Review Amber",
"UKGTN"
],
"gene_data": {
"alias": [
"cybS"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10683",
"gene_name": "succinate dehydrogenase complex subunit D",
"omim_gene": [
"602690"
],
"alias_name": [
"small subunit of cytochrome b"
],
"gene_symbol": "SDHD",
"hgnc_symbol": "SDHD",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:111957497-111990353",
"ensembl_id": "ENSG00000204370"
}
},
"GRch38": {
"90": {
"location": "11:112086773-112120013",
"ensembl_id": "ENSG00000204370"
}
}
},
"hgnc_date_symbol_changed": "1997-10-21"
},
"penetrance": "Complete",
"phenotypes": [],
"transcript": null,
"entity_name": "SDHD",
"entity_type": "gene",
"publications": [
"27899189"
],
"confidence_level": "2",
"mode_of_inheritance": "Other",
"mode_of_pathogenicity": null
},
{
"tags": [],
"evidence": [
"Expert Review Amber",
"UKGTN"
],
"gene_data": {
"alias": [
"FLJ20507",
"FLJ22257"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:26038",
"gene_name": "transmembrane protein 127",
"omim_gene": [
"613403"
],
"alias_name": null,
"gene_symbol": "TMEM127",
"hgnc_symbol": "TMEM127",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:96914254-96931732",
"ensembl_id": "ENSG00000135956"
}
},
"GRch38": {
"90": {
"location": "2:96248516-96265994",
"ensembl_id": "ENSG00000135956"
}
}
},
"hgnc_date_symbol_changed": "2006-02-13"
},
"penetrance": null,
"phenotypes": [],
"transcript": null,
"entity_name": "TMEM127",
"entity_type": "gene",
"publications": [
"24334765"
],
"confidence_level": "2",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": null
},
{
"tags": [],
"evidence": [
"Expert Review Removed",
"Expert List",
"Expert list"
],
"gene_data": {
"alias": [
"HNPCC",
"FCC2",
"HNPCC2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:7127",
"gene_name": "mutL homolog 1",
"omim_gene": [
"120436"
],
"alias_name": null,
"gene_symbol": "MLH1",
"hgnc_symbol": "MLH1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:37034823-37107380",
"ensembl_id": "ENSG00000076242"
}
},
"GRch38": {
"90": {
"location": "3:36993332-37050918",
"ensembl_id": "ENSG00000076242"
}
}
},
"hgnc_date_symbol_changed": "1993-11-24"
},
"penetrance": null,
"phenotypes": [],
"transcript": null,
"entity_name": "MLH1",
"entity_type": "gene",
"publications": [],
"confidence_level": "0",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Removed",
"Expert List",
"Expert list"
],
"gene_data": {
"alias": [
"HNPCC",
"HNPCC1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:7325",
"gene_name": "mutS homolog 2",
"omim_gene": [
"609309"
],
"alias_name": null,
"gene_symbol": "MSH2",
"hgnc_symbol": "MSH2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:47630108-47789450",
"ensembl_id": "ENSG00000095002"
}
},
"GRch38": {
"90": {
"location": "2:47402969-47562311",
"ensembl_id": "ENSG00000095002"
}
}
},
"hgnc_date_symbol_changed": "1993-07-28"
},
"penetrance": null,
"phenotypes": [],
"transcript": null,
"entity_name": "MSH2",
"entity_type": "gene",
"publications": [],
"confidence_level": "0",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Removed",
"Expert List",
"Expert list"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:7329",
"gene_name": "mutS homolog 6",
"omim_gene": [
"600678"
],
"alias_name": null,
"gene_symbol": "MSH6",
"hgnc_symbol": "MSH6",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:47922669-48037240",
"ensembl_id": "ENSG00000116062"
}
},
"GRch38": {
"90": {
"location": "2:47695530-47810101",
"ensembl_id": "ENSG00000116062"
}
}
},
"hgnc_date_symbol_changed": "1995-08-29"
},
"penetrance": null,
"phenotypes": [],
"transcript": null,
"entity_name": "MSH6",
"entity_type": "gene",
"publications": [],
"confidence_level": "0",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Removed",
"Expert List",
"Expert list"
],
"gene_data": {
"alias": [
"H_DJ0042M02.9",
"HNPCC4",
"MLH4"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9122",
"gene_name": "PMS1 homolog 2, mismatch repair system component",
"omim_gene": [
"600259"
],
"alias_name": null,
"gene_symbol": "PMS2",
"hgnc_symbol": "PMS2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:6012870-6048756",
"ensembl_id": "ENSG00000122512"
}
},
"GRch38": {
"90": {
"location": "7:5973239-6009125",
"ensembl_id": "ENSG00000122512"
}
}
},
"hgnc_date_symbol_changed": "1994-12-13"
},
"penetrance": null,
"phenotypes": [],
"transcript": null,
"entity_name": "PMS2",
"entity_type": "gene",
"publications": [],
"confidence_level": "0",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
}
],
"stats": {
"number_of_strs": 0,
"number_of_genes": 16,
"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."
}
],
"status": "public",
"hash_id": null,
"regions": [],
"version": "1.0",
"disease_group": "",
"version_created": "2019-10-15T15:11:24.377517Z",
"disease_sub_group": "",
"relevant_disorders": [
"R224"
],
"signed_off": null
}