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{
"id": 99,
"hash_id": "55e01bb222c1fc6199b42904",
"name": "Haematuria",
"disease_group": "Renal and urinary tract disorders",
"disease_sub_group": "Syndromes with prominent renal abnormalities",
"status": "public",
"version": "2.13",
"version_created": "2023-10-26T01:21:56.491472Z",
"relevant_disorders": [
"Alport syndrome",
"Familial haematuria",
"R194"
],
"stats": {
"number_of_genes": 8,
"number_of_strs": 0,
"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."
}
],
"genes": [
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2202",
"gene_name": "collagen type IV alpha 1 chain",
"omim_gene": [
"120130"
],
"alias_name": null,
"gene_symbol": "COL4A1",
"hgnc_symbol": "COL4A1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "13:110801318-110959496",
"ensembl_id": "ENSG00000187498"
}
},
"GRch38": {
"90": {
"location": "13:110148963-110307149",
"ensembl_id": "ENSG00000187498"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "COL4A1",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"18160688",
"20818663",
"27190376",
"26839400",
"26260163",
"28717939",
"19238787"
],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Expert Review"
],
"phenotypes": [
"Exophytic renal cysts",
"haematuria",
"Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps OMIM:611773"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2204",
"gene_name": "collagen type IV alpha 3 chain",
"omim_gene": [
"120070"
],
"alias_name": [
"tumstatin"
],
"gene_symbol": "COL4A3",
"hgnc_symbol": "COL4A3",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:228029281-228179508",
"ensembl_id": "ENSG00000169031"
}
},
"GRch38": {
"90": {
"location": "2:227164565-227314792",
"ensembl_id": "ENSG00000169031"
}
}
},
"hgnc_date_symbol_changed": "1991-09-12"
},
"entity_type": "gene",
"entity_name": "COL4A3",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "Other - please provide details in the comments",
"publications": [
"17942953",
"30506145",
"29987460",
"24052634"
],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Eligibility statement prior genetic testing",
"UKGTN",
"Illumina TruGenome Clinical Sequencing Services",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Alport syndrome, autosomal dominant OMIM:104200",
"Alport syndrome, autosomal recessive OMIM:203780",
"Hematuria, benign familial OMIM:141200"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CA44"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2206",
"gene_name": "collagen type IV alpha 4 chain",
"omim_gene": [
"120131"
],
"alias_name": [
"collagen of basement membrane, alpha-4 chain"
],
"gene_symbol": "COL4A4",
"hgnc_symbol": "COL4A4",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:227867427-228028829",
"ensembl_id": "ENSG00000081052"
}
},
"GRch38": {
"90": {
"location": "2:227002711-227164113",
"ensembl_id": "ENSG00000081052"
}
}
},
"hgnc_date_symbol_changed": "1992-06-25"
},
"entity_type": "gene",
"entity_name": "COL4A4",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "Other - please provide details in the comments",
"publications": [
"17942953",
"30506145",
"29987460",
"24052634"
],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Eligibility statement prior genetic testing",
"UKGTN",
"Illumina TruGenome Clinical Sequencing Services",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Alport syndrome 2, autosomal recessive OMIM:203780",
"Hematuria, familial benign OMIM:141200"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2207",
"gene_name": "collagen type IV alpha 5 chain",
"omim_gene": [
"303630"
],
"alias_name": null,
"gene_symbol": "COL4A5",
"hgnc_symbol": "COL4A5",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:107683074-107940775",
"ensembl_id": "ENSG00000188153"
}
},
"GRch38": {
"90": {
"location": "X:108439844-108697545",
"ensembl_id": "ENSG00000188153"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "COL4A5",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "Other - please provide details in the comments",
"publications": [
"14514738"
],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Eligibility statement prior genetic testing",
"UKGTN",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"Alport syndrome 1, X-linked OMIM:301050"
],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"NMMHCA",
"NMHC-II-A",
"MHA",
"FTNS",
"EPSTS"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:7579",
"gene_name": "myosin heavy chain 9",
"omim_gene": [
"160775"
],
"alias_name": [
"nonmuscle myosin heavy chain II-A"
],
"gene_symbol": "MYH9",
"hgnc_symbol": "MYH9",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "22:36677327-36784063",
"ensembl_id": "ENSG00000100345"
}
},
"GRch38": {
"90": {
"location": "22:36281281-36388018",
"ensembl_id": "ENSG00000100345"
}
}
},
"hgnc_date_symbol_changed": "1990-03-12"
},
"entity_type": "gene",
"entity_name": "MYH9",
"confidence_level": "3",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"10973259",
"12792306",
"22627578"
],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Eligibility statement prior genetic testing"
],
"phenotypes": [
"Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FHR5",
"FHR-5"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:24668",
"gene_name": "complement factor H related 5",
"omim_gene": [
"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",
"ensembl_id": "ENSG00000134389"
}
}
},
"hgnc_date_symbol_changed": "2006-02-28"
},
"entity_type": "gene",
"entity_name": "CFHR5",
"confidence_level": "2",
"penetrance": "Complete",
"mode_of_pathogenicity": "Other - please provide details in the comments",
"publications": [
"20800271",
"24067434",
"23402027"
],
"evidence": [
"Expert Review Amber",
"NHS GMS",
"Expert Review",
"Literature"
],
"phenotypes": [
"Nephropathy due to CFHR5 deficiency OMIM:614809"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2208",
"gene_name": "collagen type IV alpha 6 chain",
"omim_gene": [
"303631"
],
"alias_name": null,
"gene_symbol": "COL4A6",
"hgnc_symbol": "COL4A6",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:107386780-107682727",
"ensembl_id": "ENSG00000197565"
}
},
"GRch38": {
"90": {
"location": "X:108155607-108439497",
"ensembl_id": "ENSG00000197565"
}
}
},
"hgnc_date_symbol_changed": "1993-10-01"
},
"entity_type": "gene",
"entity_name": "COL4A6",
"confidence_level": "1",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Red",
"Radboud University Medical Center, Nijmegen"
],
"phenotypes": [
"diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5",
"Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)",
"diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)",
"(originally on Alport syndrome gene panel)"
],
"mode_of_inheritance": "",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"SRN1",
"PDCN"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:13394",
"gene_name": "NPHS2, podocin",
"omim_gene": [
"604766"
],
"alias_name": null,
"gene_symbol": "NPHS2",
"hgnc_symbol": "NPHS2",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:179519674-179545087",
"ensembl_id": "ENSG00000116218"
}
},
"GRch38": {
"90": {
"location": "1:179550539-179575952",
"ensembl_id": "ENSG00000116218"
}
}
},
"hgnc_date_symbol_changed": "2000-11-21"
},
"entity_type": "gene",
"entity_name": "NPHS2",
"confidence_level": "1",
"penetrance": "Complete",
"mode_of_pathogenicity": "",
"publications": [
"26138234"
],
"evidence": [
"NHS GMS",
"Expert Review Red",
"UKGTN"
],
"phenotypes": [
"Hematuria, Benign Familial",
"Alport Syndrome, X-Linked",
"Alport Syndrome, Autosomal Recessive",
"Alport Syndrome, Autosomal Dominant",
"Nephrotic Syndrome, Type 2",
"?Modifier of COL4A variants"
],
"mode_of_inheritance": "",
"tags": [],
"transcript": null
}
],
"strs": [],
"regions": []
}