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"name": "Adult solid tumours cancer susceptibility",
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{
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"CD292"
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},
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"entity_name": "BMPR1A",
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{
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"BRCC1",
"PPP1R53",
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"hgnc_id": "HGNC:1100",
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},
"hgnc_date_symbol_changed": "1991-02-20"
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"penetrance": "Complete",
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{
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"FAD1",
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{
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}
},
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"penetrance": "Complete",
"phenotypes": [
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{
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"alias": [
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"biotype": "protein_coding",
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"phenotypes": [
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"transcript": null,
"entity_name": "CBL",
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{
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},
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"phenotypes": [
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"entity_name": "CDC73",
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{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Expert list"
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"alias": [
"uvomorulin",
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},
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"penetrance": "Complete",
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"transcript": null,
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},
{
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"evidence": [
"NHS GMS",
"Expert Review Green",
"Expert list"
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"gene_data": {
"alias": [
"PSK-J3"
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"biotype": "protein_coding",
"hgnc_id": "HGNC:1773",
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},
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}
},
"hgnc_date_symbol_changed": "1993-07-28"
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"penetrance": "Complete",
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"mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments"
},
{
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"Expert Review Green",
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"alias": [
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},
"hgnc_date_symbol_changed": "1995-09-14"
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"penetrance": "Complete",
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"Thyroid cancer",
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"transcript": null,
"entity_name": "CDKN1B",
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"p14",
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"p16INK4a",
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"penetrance": "Complete",
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{
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"UV-DDB2",
"FLJ34321",
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},
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"penetrance": null,
"phenotypes": [
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"entity_name": "DDB2",
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{
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"KIAA0928",
"K12H4.8-LIKE",
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"biotype": "protein_coding",
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"gene_name": "dicer 1, ribonuclease III",
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"hgnc_release": "2017-11-03T00:00:00",
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"entity_name": "DICER1",
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{
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}
},
"hgnc_date_symbol_changed": "2008-12-16"
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"penetrance": "Complete",
"phenotypes": [
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"transcript": null,
"entity_name": "EPCAM",
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},
{
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],
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"SHP-2",
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}
},
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},
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},
{
"tags": [],
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"Expert list"
],
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"FANCO"
],
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"omim_gene": [
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"ensembl_id": "ENSG00000108384"
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},
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}
},
"hgnc_date_symbol_changed": "1998-02-26"
},
"penetrance": "Complete",
"phenotypes": [
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],
"transcript": null,
"entity_name": "RAD51C",
"entity_type": "gene",
"publications": [],
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"mode_of_pathogenicity": ""
},
{
"tags": [],
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"Expert Review Green",
"Expert list"
],
"gene_data": {
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"Trad",
"HsTRAD"
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"biotype": "protein_coding",
"hgnc_id": "HGNC:9823",
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],
"alias_name": [
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"DNA repair protein RAD51 homolog 4"
],
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"ensembl_genes": {
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"ensembl_id": "ENSG00000185379"
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},
"GRch38": {
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"ensembl_id": "ENSG00000185379"
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}
},
"hgnc_date_symbol_changed": "2011-07-01"
},
"penetrance": "Complete",
"phenotypes": [
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],
"transcript": null,
"entity_name": "RAD51D",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": ""
},
{
"tags": [],
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"Expert Review Green"
],
"gene_data": {
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"c-Raf",
"CRAF"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9829",
"gene_name": "Raf-1 proto-oncogene, serine/threonine kinase",
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"gene_symbol": "RAF1",
"hgnc_symbol": "RAF1",
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"ensembl_genes": {
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},
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}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
"penetrance": null,
"phenotypes": [
"LEOPARD syndrome 2 611554",
"Noonan syndrome 5 611553"
],
"transcript": null,
"entity_name": "RAF1",
"entity_type": "gene",
"publications": [
"23875798"
],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [],
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"Expert Review Green",
"Expert list"
],
"gene_data": {
"alias": [
"RB",
"PPP1R130"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9884",
"gene_name": "RB transcriptional corepressor 1",
"omim_gene": [
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],
"alias_name": [
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"protein phosphatase 1, regulatory subunit 130"
],
"gene_symbol": "RB1",
"hgnc_symbol": "RB1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
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"82": {
"location": "13:48877887-49056122",
"ensembl_id": "ENSG00000139687"
}
},
"GRch38": {
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}
}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
"penetrance": "Complete",
"phenotypes": [
"Retinoblastoma"
],
"transcript": null,
"entity_name": "RB1",
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"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Expert list"
],
"gene_data": {
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"PTC",
"CDHF12",
"RET51",
"CDHR16"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9967",
"gene_name": "ret proto-oncogene",
"omim_gene": [
"164761"
],
"alias_name": [
"cadherin-related family member 16",
"RET receptor tyrosine kinase",
"rearranged during transfection"
],
"gene_symbol": "RET",
"hgnc_symbol": "RET",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:43572475-43625799",
"ensembl_id": "ENSG00000165731"
}
},
"GRch38": {
"90": {
"location": "10:43077027-43130351",
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}
}
},
"hgnc_date_symbol_changed": "1990-07-15"
},
"penetrance": "Complete",
"phenotypes": [
"Multiple Endocrine Neoplasia"
],
"transcript": null,
"entity_name": "RET",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments"
},
{
"tags": [],
"evidence": [
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"Expert Review Green"
],
"gene_data": {
"alias": [
"bK3184A7.3",
"NHL",
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"biotype": "protein_coding",
"hgnc_id": "HGNC:15888",
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"alias_name": null,
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},
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}
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"hgnc_date_symbol_changed": "2004-10-29"
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"phenotypes": [
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"615190 DC type 4 and 5",
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"Dyskeratosis congenita, autosomal recessive 5, 615190",
"615190 Dyskeratosis congenita",
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],
"transcript": null,
"entity_name": "RTEL1",
"entity_type": "gene",
"publications": [
"24582487"
],
"confidence_level": "3",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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"Expert Review Green",
"Expert list"
],
"gene_data": {
"alias": [
"FP",
"SDHF"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10680",
"gene_name": "succinate dehydrogenase complex flavoprotein subunit A",
"omim_gene": [
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],
"alias_name": [
"succinate dehydrogenase [ubiquinone] flavoprotein subunit",
"flavoprotein subunit of complex II"
],
"gene_symbol": "SDHA",
"hgnc_symbol": "SDHA",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
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"ensembl_id": "ENSG00000073578"
}
},
"GRch38": {
"90": {
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}
},
"hgnc_date_symbol_changed": "1995-10-24"
},
"penetrance": "Complete",
"phenotypes": [
"gastrointestinal stromal tumors"
],
"transcript": null,
"entity_name": "SDHA",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
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"mode_of_pathogenicity": ""
},
{
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"Expert Review Green",
"Expert list"
],
"gene_data": {
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"SDH5"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:26034",
"gene_name": "succinate dehydrogenase complex assembly factor 2",
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"hgnc_symbol": "SDHAF2",
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"ensembl_id": "ENSG00000167985"
}
},
"GRch38": {
"90": {
"location": "11:61430042-61447529",
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}
},
"hgnc_date_symbol_changed": "2009-08-10"
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"penetrance": "Complete",
"phenotypes": [
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],
"transcript": null,
"entity_name": "SDHAF2",
"entity_type": "gene",
"publications": [],
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"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
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"Expert Review Green",
"Expert list"
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"biotype": "protein_coding",
"hgnc_id": "HGNC:10681",
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"omim_gene": [
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"ensembl_id": "ENSG00000117118"
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},
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}
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"hgnc_date_symbol_changed": "2001-06-22"
},
"penetrance": "Complete",
"phenotypes": [
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],
"transcript": null,
"entity_name": "SDHB",
"entity_type": "gene",
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"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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"Expert Review Green",
"Expert list"
],
"gene_data": {
"alias": [
"CYB560",
"cybL"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10682",
"gene_name": "succinate dehydrogenase complex subunit C",
"omim_gene": [
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],
"alias_name": [
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"succinate dehydrgenase cytochrome b",
"large subunit of cytochrome b"
],
"gene_symbol": "SDHC",
"hgnc_symbol": "SDHC",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
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"82": {
"location": "1:161284047-161332984",
"ensembl_id": "ENSG00000143252"
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},
"GRch38": {
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}
},
"hgnc_date_symbol_changed": "1997-10-21"
},
"penetrance": "Complete",
"phenotypes": [
"Familial Paraganglioma and Pheochromocytoma"
],
"transcript": null,
"entity_name": "SDHC",
"entity_type": "gene",
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"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [],
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"Expert Review Green",
"Expert list"
],
"gene_data": {
"alias": [
"cybS"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10683",
"gene_name": "succinate dehydrogenase complex subunit D",
"omim_gene": [
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],
"alias_name": [
"small subunit of cytochrome b"
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"gene_symbol": "SDHD",
"hgnc_symbol": "SDHD",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:111957497-111990353",
"ensembl_id": "ENSG00000204370"
}
},
"GRch38": {
"90": {
"location": "11:112086773-112120013",
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}
},
"hgnc_date_symbol_changed": "1997-10-21"
},
"penetrance": "Complete",
"phenotypes": [
"Familial Paraganglioma and Pheochromocytoma"
],
"transcript": null,
"entity_name": "SDHD",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"KIAA0862",
"SOC2",
"SUR-8",
"SOC-2",
"SUR8"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:15454",
"gene_name": "SHOC2, leucine rich repeat scaffold protein",
"omim_gene": [
"602775"
],
"alias_name": null,
"gene_symbol": "SHOC2",
"hgnc_symbol": "SHOC2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:112679301-112773425",
"ensembl_id": "ENSG00000108061"
}
},
"GRch38": {
"90": {
"location": "10:110919547-111013667",
"ensembl_id": "ENSG00000108061"
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}
},
"hgnc_date_symbol_changed": "2001-03-30"
},
"penetrance": null,
"phenotypes": [
"Noonan-like syndrome with loose anagen hair"
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"transcript": null,
"entity_name": "SHOC2",
"entity_type": "gene",
"publications": [
"23875798"
],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Expert list"
],
"gene_data": {
"alias": [
"DPC4"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6770",
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],
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"hgnc_release": "2017-11-03T00:00:00",
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},
"GRch38": {
"90": {
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}
},
"hgnc_date_symbol_changed": "2004-05-26"
},
"penetrance": "Complete",
"phenotypes": [
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"transcript": null,
"entity_name": "SMAD4",
"entity_type": "gene",
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"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Expert list"
],
"gene_data": {
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"hSNF2b",
"BRG1",
"BAF190",
"SNF2",
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"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",
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"mitotic growth and transcription activator",
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"homeotic gene regulator",
"nuclear protein GRB1",
"brahma protein-like 1",
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"gene_symbol": "SMARCA4",
"hgnc_symbol": "SMARCA4",
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"ensembl_genes": {
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}
},
"hgnc_date_symbol_changed": "1995-07-17"
},
"penetrance": "Complete",
"phenotypes": [
"predisposition to small cell ca",
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],
"transcript": null,
"entity_name": "SMARCA4",
"entity_type": "gene",
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"mode_of_pathogenicity": ""
},
{
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"Expert Review Green",
"Expert list"
],
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],
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"malignant rhabdoid tumor suppressor",
"protein phosphatase 1, regulatory subunit 144"
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"ensembl_genes": {
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},
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}
},
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},
"penetrance": "Complete",
"phenotypes": [
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],
"transcript": null,
"entity_name": "SMARCB1",
"entity_type": "gene",
"publications": [],
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"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"HGF",
"GF1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11187",
"gene_name": "SOS Ras/Rac guanine nucleotide exchange factor 1",
"omim_gene": [
"182530"
],
"alias_name": null,
"gene_symbol": "SOS1",
"hgnc_symbol": "SOS1",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:39208537-39351486",
"ensembl_id": "ENSG00000115904"
}
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"alias_name": [
"protein phosphatase 1, regulatory subunit 147"
],
"gene_symbol": "SPRED1",
"hgnc_symbol": "SPRED1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "15:38544527-38649450",
"ensembl_id": "ENSG00000166068"
}
},
"GRch38": {
"90": {
"location": "15:38252326-38357249",
"ensembl_id": "ENSG00000166068"
}
}
},
"hgnc_date_symbol_changed": "2003-01-24"
},
"penetrance": null,
"phenotypes": [
"Legius syndrome 611431"
],
"transcript": null,
"entity_name": "SPRED1",
"entity_type": "gene",
"publications": [
"23875798"
],
"confidence_level": "1",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
}
],
"stats": {
"number_of_strs": 0,
"number_of_genes": 104,
"number_of_regions": 0
},
"types": [
{
"name": "Cancer Germline 100K",
"slug": "cancer-germline-100k",
"description": "Cancer Germline 100K"
},
{
"name": "GMS Cancer Germline Virtual",
"slug": "gms-cancer-germline-virtual",
"description": "This is a panel used for WGS germline analysis for the GMS."
},
{
"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": "595ce30f8f62036352471f39",
"regions": [],
"version": "2.2",
"disease_group": "Cancer Programme",
"version_created": "2020-02-18T16:58:52.111020Z",
"disease_sub_group": "Pertinent cancer susceptibility gene panel",
"relevant_disorders": [
"Carcinoma of unknown primary",
"Other",
"Adult solid tumours pertinent cancer susceptibility"
],
"signed_off": "2020-02-18"
}