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{
"id": 503,
"hash_id": null,
"name": "Inherited MMR deficiency (Lynch syndrome)",
"disease_group": "",
"disease_sub_group": "",
"status": "public",
"version": "1.12",
"version_created": "2023-10-26T01:28:37.110546Z",
"relevant_disorders": [
"R210"
],
"stats": {
"number_of_genes": 5,
"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": [
"Ly74",
"TROP1",
"GA733-2",
"EGP34",
"EGP40",
"EGP-2",
"KSA",
"CD326",
"Ep-CAM",
"HEA125",
"KS1/4",
"MK-1",
"MH99",
"MOC31",
"323/A3",
"17-1A",
"TACST-1",
"CO-17A",
"ESA"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11529",
"gene_name": "epithelial cell adhesion molecule",
"omim_gene": [
"185535"
],
"alias_name": null,
"gene_symbol": "EPCAM",
"hgnc_symbol": "EPCAM",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:47572297-47614740",
"ensembl_id": "ENSG00000119888"
}
},
"GRch38": {
"90": {
"location": "2:47345158-47387601",
"ensembl_id": "ENSG00000119888"
}
}
},
"hgnc_date_symbol_changed": "2008-12-16"
},
"entity_type": "gene",
"entity_name": "EPCAM",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Expert List"
],
"phenotypes": [
"Colorectal cancer, hereditary nonpolyposis, type 8, OMIM:613244",
"Colorectal cancer, hereditary nonpolyposis, type 8, MONDO:0013196"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"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"
},
"entity_type": "gene",
"entity_name": "MLH1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Expert List"
],
"phenotypes": [
"Colorectal cancer, hereditary nonpolyposis, type 2, OMIM:609310",
"Colorectal cancer, hereditary nonpolyposis, type 2, MONDO:0012249",
"Lynch syndrome 1, MONDO:0007356"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"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"
},
"entity_type": "gene",
"entity_name": "MSH2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Expert List"
],
"phenotypes": [
"Colorectal cancer, hereditary nonpolyposis, type 1, OMIM:120435",
"Lynch syndrome 1, MONDO:0007356"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"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"
},
"entity_type": "gene",
"entity_name": "MSH6",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Expert List"
],
"phenotypes": [
"Colorectal cancer, hereditary nonpolyposis, type 5, OMIM:614350",
"Colorectal cancer, hereditary nonpolyposis, type 5, MONDO:0013710",
"Lynch syndrome 1, MONDO:0007356"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"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"
},
"entity_type": "gene",
"entity_name": "PMS2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Expert List"
],
"phenotypes": [
"Colorectal cancer, hereditary nonpolyposis, type 4, OMIM:614337",
"Colorectal cancer, hereditary nonpolyposis, type 4, MONDO:0013699",
"Lynch syndrome 1, MONDO:0007356"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
}
],
"strs": [],
"regions": []
}