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{
"id": 83,
"name": "Membranoproliferative glomerulonephritis",
"strs": [],
"genes": [
{
"tags": [],
"evidence": [
"Expert Review Green",
"NHS GMS",
"Expert list"
],
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"CPAMD1",
"ARMD9",
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],
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],
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"complement component C3b",
"prepro-C3"
],
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"hgnc_release": "2017-11-03T00:00:00",
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"GRch37": {
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}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
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"C3G",
"C3 deficiency, 613779",
"Immune complex MPGN",
"IC-MPGN"
],
"transcript": null,
"entity_name": "C3",
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"20852386",
"18796626",
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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"
},
{
"tags": [
"for-review"
],
"evidence": [
"Expert Review Green",
"NHS GMS",
"Expert list"
],
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"alias": [
"H2-Bf"
],
"biotype": "protein_coding",
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"GRch37": {
"82": {
"location": "6:31895475-31919861",
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}
},
"GRch38": {
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"location": "6:31945650-31952084",
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}
},
"hgnc_date_symbol_changed": "2006-02-10"
},
"penetrance": "Complete",
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"Haemolytic uraemic syndrome",
"aHUS",
"Hemolytic uremic syndrome, atypical, susceptibility to, 4, 612924",
"C3 glomerulopathy",
"C3G",
"Immune complex MPGN",
"IC-MPGN",
"MPGN",
"Membranoproliferative glomerulonephritis"
],
"transcript": null,
"entity_name": "CFB",
"entity_type": "gene",
"publications": [
"25758434",
"17182750",
"21902819",
"26283675"
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"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": [
"NHS GMS",
"Expert Review Green",
"Expert list"
],
"gene_data": {
"alias": [
"HUS",
"FHL1",
"ARMS1",
"ARMD4"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4883",
"gene_name": "complement factor H",
"omim_gene": [
"134370"
],
"alias_name": [
"beta-1H",
"H factor 2 (complement)",
"age-related maculopathy susceptibility 1"
],
"gene_symbol": "CFH",
"hgnc_symbol": "CFH",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:196621008-196716634",
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}
},
"GRch38": {
"90": {
"location": "1:196651878-196747504",
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}
}
},
"hgnc_date_symbol_changed": "2004-08-12"
},
"penetrance": "Complete",
"phenotypes": [
"C3 glomerulopathy",
"C3G",
"Immune complex MPGN",
"IC-MPGN",
"Hemolytic uremic syndrome, atypical, susceptibility to, 1, 235400",
"Dense Deposit Disease",
"Membranoproliferative Glomerulonephritis Type II",
"Immune-complex-mediated MPGN"
],
"transcript": null,
"entity_name": "CFH",
"entity_type": "gene",
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"16612335",
"24722444",
"27458560",
"9312129"
],
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"mode_of_pathogenicity": ""
},
{
"tags": [
"currently-ngs-unreportable"
],
"evidence": [
"Expert Review Green",
"Expert list"
],
"gene_data": {
"alias": [
"H36-1",
"FHR1",
"CFHL",
"H36-2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4888",
"gene_name": "complement factor H related 1",
"omim_gene": [
"134371"
],
"alias_name": null,
"gene_symbol": "CFHR1",
"hgnc_symbol": "CFHR1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:196788887-196801319",
"ensembl_id": "ENSG00000244414"
}
},
"GRch38": {
"90": {
"location": "1:196819757-196832189",
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}
},
"hgnc_date_symbol_changed": "2006-02-28"
},
"penetrance": "Complete",
"phenotypes": [
"C3 glomerulopathy",
"C3G",
"Immune complex MPGN",
"IC-MPGN",
"Hemolytic uremic syndrome, atypical, susceptibility to, 235400",
"Immune-complex-mediated MPGN"
],
"transcript": null,
"entity_name": "CFHR1",
"entity_type": "gene",
"publications": [
"24172683",
"23728178",
"24334459",
"20800271",
"27458560"
],
"confidence_level": "3",
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [
"currently-ngs-unreportable"
],
"evidence": [
"Expert Review Green",
"Expert list"
],
"gene_data": {
"alias": [
"FHR2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4890",
"gene_name": "complement factor H related 2",
"omim_gene": [
"600889"
],
"alias_name": null,
"gene_symbol": "CFHR2",
"hgnc_symbol": "CFHR2",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:196788898-196928356",
"ensembl_id": "ENSG00000080910"
}
},
"GRch38": {
"90": {
"location": "1:196943772-196959226",
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}
},
"hgnc_date_symbol_changed": "2006-02-28"
},
"penetrance": "Complete",
"phenotypes": [
"C3 glomerulopathy",
"C3G",
"Immune complex MPGN",
"IC-MPGN",
"Immune-complex-mediated MPGN"
],
"transcript": null,
"entity_name": "CFHR2",
"entity_type": "gene",
"publications": [
"24172683",
"24334459",
"23728178",
"20800271",
"22456601",
"27458560"
],
"confidence_level": "3",
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [
"currently-ngs-unreportable"
],
"evidence": [
"Expert Review Green",
"Expert list"
],
"gene_data": {
"alias": [
"FHR5",
"FHR-5"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:24668",
"gene_name": "complement factor H related 5",
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"608593"
],
"alias_name": [
"factor H related protein 5"
],
"gene_symbol": "CFHR5",
"hgnc_symbol": "CFHR5",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:196946667-196978804",
"ensembl_id": "ENSG00000134389"
}
},
"GRch38": {
"90": {
"location": "1:196977556-197009674",
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}
}
},
"hgnc_date_symbol_changed": "2006-02-28"
},
"penetrance": "Complete",
"phenotypes": [
"C3 glomerulopathy",
"C3G",
"Immune complex MPGN",
"IC-MPGN",
"Nephropathy due to CFHR5 deficiency,614809",
"Immune-complex-mediated MPGN",
"CFHR5 nephropathy"
],
"transcript": null,
"entity_name": "CFHR5",
"entity_type": "gene",
"publications": [
"24172683",
"20800271",
"24067434",
"23728178",
"27458560"
],
"confidence_level": "3",
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [
"for-review"
],
"evidence": [
"Expert Review Green",
"NHS GMS",
"Expert list"
],
"gene_data": {
"alias": [
"FI",
"C3b-INA",
"KAF"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:5394",
"gene_name": "complement factor I",
"omim_gene": [
"217030"
],
"alias_name": [
"Konglutinogen-activating factor",
"C3b-inactivator"
],
"gene_symbol": "CFI",
"hgnc_symbol": "CFI",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:110661852-110723335",
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}
},
"GRch38": {
"90": {
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}
}
},
"hgnc_date_symbol_changed": "2006-02-10"
},
"penetrance": "Complete",
"phenotypes": [
"C3 glomerulopathy",
"C3G",
"Immune complex MPGN",
"IC-MPGN",
"Immune-complex-mediated MPGN",
"Hemolytic uremic syndrome, atypical, susceptibility to, 3,612923"
],
"transcript": null,
"entity_name": "CFI",
"entity_type": "gene",
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"24172683",
"18371543",
"22456601",
"27458560"
],
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"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Expert list"
],
"gene_data": {
"alias": [
"DAGK6",
"DGK"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2852",
"gene_name": "diacylglycerol kinase epsilon",
"omim_gene": [
"601440"
],
"alias_name": null,
"gene_symbol": "DGKE",
"hgnc_symbol": "DGKE",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:54911460-54946036",
"ensembl_id": "ENSG00000153933"
}
},
"GRch38": {
"90": {
"location": "17:56834099-56869567",
"ensembl_id": "ENSG00000153933"
}
}
},
"hgnc_date_symbol_changed": "1998-10-02"
},
"penetrance": "Complete",
"phenotypes": [
"Haemolytic uraemic syndrome",
"aHUS",
"Hemolytic uremic syndrome, atypical, susceptibility to, 7, 615008",
"Nephrotic syndrome, type 7, 615008",
"C3 glomerulopathy",
"C3G",
"Immune complex MPGN",
"IC-MPGN"
],
"transcript": null,
"entity_name": "DGKE",
"entity_type": "gene",
"publications": [
"23274426",
"23542698",
"21902819",
"28526779"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red",
"Expert list"
],
"gene_data": {
"alias": [
"TRA2.10",
"MGC26544",
"TLX"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6953",
"gene_name": "CD46 molecule",
"omim_gene": [
"120920"
],
"alias_name": null,
"gene_symbol": "CD46",
"hgnc_symbol": "CD46",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:207925402-207968858",
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}
},
"GRch38": {
"90": {
"location": "1:207752057-207795513",
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}
},
"hgnc_date_symbol_changed": "2006-02-09"
},
"penetrance": "Complete",
"phenotypes": [
"Haemolytic uraemic syndrome",
"aHUS",
"Hemolytic uremic syndrome, atypical, susceptibility to, 2, 612922",
"C3 glomerulopathy",
"C3G",
"Immune complex MPGN",
"IC-MPGN"
],
"transcript": null,
"entity_name": "CD46",
"entity_type": "gene",
"publications": [
"24172683",
"22456601",
"14615110",
"21902819"
],
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"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
}
],
"stats": {
"number_of_strs": 0,
"number_of_genes": 9,
"number_of_regions": 0
},
"types": [
{
"name": "Rare Disease 100K",
"slug": "rare-disease-100k",
"description": "Rare Disease 100K"
},
{
"name": "GMS Rare Disease Virtual",
"slug": "gms-rare-disease-virtual",
"description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
},
{
"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": "58c805938f6203413360f1cb",
"regions": [],
"version": "2.13",
"disease_group": "Renal and urinary tract disorders",
"version_created": "2020-10-16T08:11:21.462473Z",
"disease_sub_group": "Syndromes with prominent renal abnormalities",
"relevant_disorders": [
"PMG",
"MPGN",
"Primary Membranoproliferative Glomerulonephritis",
"Primary membranoproliferative glomerulonephritis",
"R197"
],
"signed_off": "2020-10-16"
}