HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"id": 519,
"hash_id": null,
"name": "Cytopenia - NOT Fanconi anaemia",
"disease_group": "",
"disease_sub_group": "",
"status": "public",
"version": "3.34",
"version_created": "2024-04-26T11:10:11.443530Z",
"relevant_disorders": [
"R91"
],
"stats": {
"number_of_genes": 136,
"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"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": [
"Ptop",
"Pip1",
"Tpp1",
"Tint1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:25070",
"gene_name": "ACD, shelterin complex subunit and telomerase recruitment factor",
"omim_gene": [
"609377"
],
"alias_name": [
"TIN2 interacting protein 1",
"POT1 and TIN2 organizing protein"
],
"gene_symbol": "ACD",
"hgnc_symbol": "ACD",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "16:67691415-67694713",
"ensembl_id": "ENSG00000102977"
}
},
"GRch38": {
"90": {
"location": "16:67657512-67660815",
"ensembl_id": "ENSG00000102977"
}
}
},
"hgnc_date_symbol_changed": "2005-01-04"
},
"entity_type": "gene",
"entity_name": "ACD",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25233904",
"25205116"
],
"evidence": [
"Expert Review Green",
"North West GLH",
"Yorkshire and North East GLH",
"NHS GMS",
"London South GLH"
],
"phenotypes": [
"Dyskeratosis congenita, autosomal dominant 6, OMIM:616553",
"Dyskeratosis congenita, autosomal recessive 7, OMIM:616553"
],
"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": [
"ADGF"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1839",
"gene_name": "adenosine deaminase 2",
"omim_gene": [
"607575"
],
"alias_name": null,
"gene_symbol": "ADA2",
"hgnc_symbol": "ADA2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "22:17660194-17702879",
"ensembl_id": "ENSG00000093072"
}
},
"GRch38": {
"90": {
"location": "22:17178790-17221989",
"ensembl_id": "ENSG00000093072"
}
}
},
"hgnc_date_symbol_changed": "2017-02-16"
},
"entity_type": "gene",
"entity_name": "ADA2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25075847",
"24552285",
"24552284"
],
"evidence": [
"Expert Review Green",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688",
"Sneddon syndrome, OMIM:182410",
"Diamond-Blackfan Anemia"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:362",
"gene_name": "adenylate kinase 2",
"omim_gene": [
"103020"
],
"alias_name": null,
"gene_symbol": "AK2",
"hgnc_symbol": "AK2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:33473585-33546597",
"ensembl_id": "ENSG00000004455"
}
},
"GRch38": {
"90": {
"location": "1:33007940-33080996",
"ensembl_id": "ENSG00000004455"
}
}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
"entity_type": "gene",
"entity_name": "AK2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"19043416",
"19043417",
"23014587",
"31673062",
"32532877"
],
"evidence": [
"Expert Review Green",
"Expert list"
],
"phenotypes": [
"Reticular dysgenesis, 267500"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"KIAA1074"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:29186",
"gene_name": "ankyrin repeat domain 26",
"omim_gene": [
"610855"
],
"alias_name": null,
"gene_symbol": "ANKRD26",
"hgnc_symbol": "ANKRD26",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:27280843-27389421",
"ensembl_id": "ENSG00000107890"
}
},
"GRch38": {
"90": {
"location": "10:26991914-27100498",
"ensembl_id": "ENSG00000107890"
}
}
},
"hgnc_date_symbol_changed": "2004-02-04"
},
"entity_type": "gene",
"entity_name": "ANKRD26",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"2121161",
"20626622"
],
"evidence": [
"Expert review Green",
"North West GLH",
"Wessex and West Midlands GLH",
"Expert Review Green",
"Yorkshire and North East GLH",
"NHS GMS",
"London South GLH"
],
"phenotypes": [
"Thrombocytopenia 2, 188000"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"HSP78",
"SKD3",
"FLJ13152",
"ANKCLB"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:30664",
"gene_name": "ClpB homolog, mitochondrial AAA ATPase chaperonin",
"omim_gene": [
"616254"
],
"alias_name": [
"suppressor of potassium transport defect 3",
"ankyrin-repeat containing bacterial clp fusion"
],
"gene_symbol": "CLPB",
"hgnc_symbol": "CLPB",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:72003469-72145692",
"ensembl_id": "ENSG00000162129"
}
},
"GRch38": {
"90": {
"location": "11:72292425-72434680",
"ensembl_id": "ENSG00000162129"
}
}
},
"hgnc_date_symbol_changed": "2005-10-04"
},
"entity_type": "gene",
"entity_name": "CLPB",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25597510",
"25597511",
"25650066",
"26916670",
"28687938",
"34140661",
"34115842"
],
"evidence": [
"Expert Review Green",
"Expert review Red",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271",
"3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM:619835",
"Neutropenia, severe congenital, 9, autosomal dominant, OMIM:619813"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"GCSFR"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2439",
"gene_name": "colony stimulating factor 3 receptor",
"omim_gene": [
"138971"
],
"alias_name": null,
"gene_symbol": "CSF3R",
"hgnc_symbol": "CSF3R",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:36931644-36948879",
"ensembl_id": "ENSG00000119535"
}
},
"GRch38": {
"90": {
"location": "1:36466043-36483278",
"ensembl_id": "ENSG00000119535"
}
}
},
"hgnc_date_symbol_changed": "1990-12-10"
},
"entity_type": "gene",
"entity_name": "CSF3R",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"26324699",
"12203110",
"19620628"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Neutropenia, severe congenital, 7, autosomal recessive, 617014",
"617014 Neutropenia, severe congenital, 7",
"617014 Neutropenia, severe congenital, 7, autosomal recessive",
"Severe congenital neutropenia"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ22170",
"AAF132"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:26169",
"gene_name": "CST telomere replication complex component 1",
"omim_gene": [
"613129"
],
"alias_name": [
"conserved telomere maintenance component 1",
"alpha accessory factor 132",
"conserved telomere capping protein 1"
],
"gene_symbol": "CTC1",
"hgnc_symbol": "CTC1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:8130191-8151362",
"ensembl_id": "ENSG00000178971"
}
},
"GRch38": {
"90": {
"location": "17:8224821-8248044",
"ensembl_id": "ENSG00000178971"
}
}
},
"hgnc_date_symbol_changed": "2011-02-21"
},
"entity_type": "gene",
"entity_name": "CTC1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"22532422",
"22899577",
"22267198",
"22387016"
],
"evidence": [
"Expert Review Green",
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita",
"Dyskeratosis Congenita, Recessive",
"Inherited Bone Marrow Failure Syndromes",
"612199 Coats plus syndrome",
"Dyskeratosis congenita"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"LESTR",
"NPY3R",
"HM89",
"NPYY3R",
"D2S201E",
"fusin",
"HSY3RR",
"NPYR",
"CD184"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2561",
"gene_name": "C-X-C motif chemokine receptor 4",
"omim_gene": [
"162643"
],
"alias_name": null,
"gene_symbol": "CXCR4",
"hgnc_symbol": "CXCR4",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:136871919-136875735",
"ensembl_id": "ENSG00000121966"
}
},
"GRch38": {
"90": {
"location": "2:136114349-136118165",
"ensembl_id": "ENSG00000121966"
}
}
},
"hgnc_date_symbol_changed": "1998-09-17"
},
"entity_type": "gene",
"entity_name": "CXCR4",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"10767001",
"12692554"
],
"evidence": [
"Expert Review Green",
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated",
"193670 WHIM syndrome",
"WHIM syndrome, 193670",
"Severe congenital neutropenia"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"HCS",
"CYC"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:19986",
"gene_name": "cytochrome c, somatic",
"omim_gene": [
"123970"
],
"alias_name": null,
"gene_symbol": "CYCS",
"hgnc_symbol": "CYCS",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:25159710-25164980",
"ensembl_id": "ENSG00000172115"
}
},
"GRch38": {
"90": {
"location": "7:25120091-25125361",
"ensembl_id": "ENSG00000172115"
}
}
},
"hgnc_date_symbol_changed": "2002-12-16"
},
"entity_type": "gene",
"entity_name": "CYCS",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"30051457",
"18345000"
],
"evidence": [
"Expert review Green",
"North West GLH",
"Wessex and West Midlands GLH",
"Expert Review Green",
"London South GLH",
"NHS GMS",
"Yorkshire and North East GLH"
],
"phenotypes": [
"Thrombocytopenia 4, OMIM:612004"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"ABS",
"MGC8828"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:18674",
"gene_name": "DEAD-box helicase 41",
"omim_gene": [
"608170"
],
"alias_name": null,
"gene_symbol": "DDX41",
"hgnc_symbol": "DDX41",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "5:176938578-176944470",
"ensembl_id": "ENSG00000183258"
}
},
"GRch38": {
"90": {
"location": "5:177511577-177517469",
"ensembl_id": "ENSG00000183258"
}
}
},
"hgnc_date_symbol_changed": "2003-06-13"
},
"entity_type": "gene",
"entity_name": "DDX41",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25920683",
"26712909"
],
"evidence": [
"Expert Review Green",
"NHS GMS",
"London South GLH"
],
"phenotypes": [
"Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to, 616871"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"XAP101",
"dyskerin",
"NAP57",
"NOLA4",
"Cbf5"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2890",
"gene_name": "dyskerin pseudouridine synthase 1",
"omim_gene": [
"300126"
],
"alias_name": [
"H/ACA ribonucleoprotein complex subunit 4"
],
"gene_symbol": "DKC1",
"hgnc_symbol": "DKC1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:153991031-154005964",
"ensembl_id": "ENSG00000130826"
}
},
"GRch38": {
"90": {
"location": "X:154762742-154777689",
"ensembl_id": "ENSG00000130826"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "DKC1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"10364516",
"9888995",
"11379875"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Dyskeratosis congenita, X-linked, 305000",
"305000 Dyskeratosis congenita",
"Dyskeratosis congenita"
],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"GS3",
"DNAJA5",
"JJJ1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:27030",
"gene_name": "DnaJ heat shock protein family (Hsp40) member C21",
"omim_gene": [
"617048"
],
"alias_name": [
"JJJ1 DnaJ domain protein homolog (S. cerevisiae)"
],
"gene_symbol": "DNAJC21",
"hgnc_symbol": "DNAJC21",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "5:34929698-34959069",
"ensembl_id": "ENSG00000168724"
}
},
"GRch38": {
"90": {
"location": "5:34929593-34958964",
"ensembl_id": "ENSG00000168724"
}
}
},
"hgnc_date_symbol_changed": "2007-11-19"
},
"entity_type": "gene",
"entity_name": "DNAJC21",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"27346687"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Pancytopaenia",
"Bone Marrow Failure",
"617052 Bone marrow failure syndrome 3",
"Bone marrow failure syndrome 3, 617052"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ13119",
"FAM42A",
"HsT19294",
"RIA1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:25789",
"gene_name": "elongation factor like GTPase 1",
"omim_gene": [
"617538"
],
"alias_name": [
"ribosome assembly 1 homolog (yeast)"
],
"gene_symbol": "EFL1",
"hgnc_symbol": "EFL1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "15:82422571-82555104",
"ensembl_id": "ENSG00000140598"
}
},
"GRch38": {
"90": {
"location": "15:82130230-82262763",
"ensembl_id": "ENSG00000140598"
}
}
},
"hgnc_date_symbol_changed": "2016-01-05"
},
"entity_type": "gene",
"entity_name": "EFL1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"29970384, 28331068",
"31151987"
],
"evidence": [
"Expert Review Green",
"North West GLH",
"Yorkshire and North East GLH",
"NHS GMS",
"London South GLH"
],
"phenotypes": [
"Shwachman-Diamond syndrome 2, 617941",
"617941 Shwachman-Diamond syndrome 2"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"NE",
"HNE",
"HLE"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3309",
"gene_name": "elastase, neutrophil expressed",
"omim_gene": [
"130130"
],
"alias_name": [
"neutrophil elastase",
"leukocyte elastase",
"medullasin"
],
"gene_symbol": "ELANE",
"hgnc_symbol": "ELANE",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:851014-856242",
"ensembl_id": "ENSG00000197561"
}
},
"GRch38": {
"90": {
"location": "19:851014-856247",
"ensembl_id": "ENSG00000197561"
}
}
},
"hgnc_date_symbol_changed": "2009-05-05"
},
"entity_type": "gene",
"entity_name": "ELANE",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"18028488",
"11001877",
"10581030"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Neutropenia, severe congenital 1, autosomal dominant, 202700",
"Neutropenia, cyclic, 162800",
"Neutropenia, severe congenital 1, autosomal dominant 202700",
"202700 Neutropenia, severe congenital 1",
"202700 Neutropenia, severe congenital 1, autosomal dominant",
"Neutropenia, cyclic 162800",
"162800 Cyclic neutropenia",
"162800 Neutropenia, cyclic"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ37706",
"RAD26L"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:26922",
"gene_name": "ERCC excision repair 6 like 2",
"omim_gene": [
"615667"
],
"alias_name": null,
"gene_symbol": "ERCC6L2",
"hgnc_symbol": "ERCC6L2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "9:98637983-98776842",
"ensembl_id": "ENSG00000182150"
}
},
"GRch38": {
"90": {
"location": "9:95875701-96014571",
"ensembl_id": "ENSG00000182150"
}
}
},
"hgnc_date_symbol_changed": "2012-03-30"
},
"entity_type": "gene",
"entity_name": "ERCC6L2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"24507776",
"27185855"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"615715 Bone marrow failure syndrome 2",
"Bone marrow failure syndrome 2, 615715"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"TEL"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3495",
"gene_name": "ETS variant 6",
"omim_gene": [
"600618"
],
"alias_name": [
"TEL oncogene"
],
"gene_symbol": "ETV6",
"hgnc_symbol": "ETV6",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:11802788-12048336",
"ensembl_id": "ENSG00000139083"
}
},
"GRch38": {
"90": {
"location": "12:11649854-11895402",
"ensembl_id": "ENSG00000139083"
}
}
},
"hgnc_date_symbol_changed": "1995-11-28"
},
"entity_type": "gene",
"entity_name": "ETV6",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25581430",
"25807284"
],
"evidence": [
"Expert review Green",
"North West GLH",
"Wessex and West Midlands GLH",
"Expert Review Green",
"Yorkshire and North East GLH",
"NHS GMS",
"London South GLH"
],
"phenotypes": [
"616216 Thrombocytopenia 5"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"SLAP-130",
"FYB-120/130",
"ADAP"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4036",
"gene_name": "FYN binding protein 1",
"omim_gene": [
"602731"
],
"alias_name": [
"adhesion and degranulation promoting adaptor protein"
],
"gene_symbol": "FYB1",
"hgnc_symbol": "FYB1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "5:39105338-39274630",
"ensembl_id": "ENSG00000082074"
}
},
"GRch38": {
"90": {
"location": "5:39105236-39274528",
"ensembl_id": "ENSG00000082074"
}
}
},
"hgnc_date_symbol_changed": "2017-05-25"
},
"entity_type": "gene",
"entity_name": "FYB1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25516138",
"25876182"
],
"evidence": [
"Expert review Green",
"Wessex and West Midlands GLH",
"Expert Review Green",
"London South GLH",
"North West GLH",
"NHS GMS",
"Yorkshire and North East GLH"
],
"phenotypes": [
"273900 Thrombocytopenia 3",
"Thrombocytopenia 3, 273900"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"UGRP"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:24861",
"gene_name": "glucose-6-phosphatase catalytic subunit 3",
"omim_gene": [
"611045"
],
"alias_name": null,
"gene_symbol": "G6PC3",
"hgnc_symbol": "G6PC3",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:42148103-42153709",
"ensembl_id": "ENSG00000141349"
}
},
"GRch38": {
"90": {
"location": "17:44070735-44076344",
"ensembl_id": "ENSG00000141349"
}
}
},
"hgnc_date_symbol_changed": "2004-03-29"
},
"entity_type": "gene",
"entity_name": "G6PC3",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"19696212",
"19118303",
"20717171"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Dursun syndrome, 612541",
"Severe congenital neutropenic",
"612541 Neutropenia, severe congenital 4, autosomal recessive",
"Inherited Bone Marrow Failure Syndromes - Neutropenia",
"Neutropenia, severe congenital 4, autosomal recessive, 612541",
"Neutropenia, Severe Congenital, 4 Autosomal Dominant",
"612541 Neutropenia, severe congenital 4",
"Severe Congenital Neutropenia"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"ERYF1",
"NFE1",
"GATA-1",
"NF-E1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4170",
"gene_name": "GATA binding protein 1",
"omim_gene": [
"305371"
],
"alias_name": [
"nuclear factor, erythroid 1"
],
"gene_symbol": "GATA1",
"hgnc_symbol": "GATA1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:48644962-48652716",
"ensembl_id": "ENSG00000102145"
}
},
"GRch38": {
"90": {
"location": "X:48786554-48794311",
"ensembl_id": "ENSG00000102145"
}
}
},
"hgnc_date_symbol_changed": "1990-09-10"
},
"entity_type": "gene",
"entity_name": "GATA1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"22706301",
"24952648",
"24766296",
"10700180",
"24453067",
"12200364",
"11809723"
],
"evidence": [
"Expert review Green",
"Expert Review Green",
"London South GLH",
"North West GLH",
"Yorkshire and North East GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"314050 Thrombocytopenia with beta-thalassemia, X-linked",
"Diamond Blackfan Anaemia",
"Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367",
"Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835",
"Myelodysplastic syndrome (MDS), Paediatric",
"Anaemia",
"thrombocytopenia"
],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"NFE1B"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4171",
"gene_name": "GATA binding protein 2",
"omim_gene": [
"137295"
],
"alias_name": null,
"gene_symbol": "GATA2",
"hgnc_symbol": "GATA2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:128198270-128212028",
"ensembl_id": "ENSG00000179348"
}
},
"GRch38": {
"90": {
"location": "3:128479427-128493185",
"ensembl_id": "ENSG00000179348"
}
}
},
"hgnc_date_symbol_changed": "1992-11-03"
},
"entity_type": "gene",
"entity_name": "GATA2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"21892158",
"21892162"
],
"evidence": [
"Expert Review Green",
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Congenital dyserythropoietic anemia (CDA)",
"Myelodysplastic Syndrome",
"Familial MDS (Myelodysplastic syndromes)",
"Leukemia, Acute Myeloid",
"{Leukemia, acute myeloid, susceptibility to}, 601626",
"Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies",
"{Myelodysplastic syndrome, susceptibility to}, 614286",
"Primary Lymphedema with Myelodysplasia",
"Lymphedema, Primary, With Myelodysplasia",
"Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency",
"614038 Emberger syndrome",
"Immunodeficiency 21",
"Emberger syndrome, 614038 (includes pancytopenia)",
"Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"GFI1A",
"GFI-1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4237",
"gene_name": "growth factor independent 1 transcriptional repressor",
"omim_gene": [
"600871"
],
"alias_name": null,
"gene_symbol": "GFI1",
"hgnc_symbol": "GFI1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:92940319-92952433",
"ensembl_id": "ENSG00000162676"
}
},
"GRch38": {
"90": {
"location": "1:92474762-92486876",
"ensembl_id": "ENSG00000162676"
}
}
},
"hgnc_date_symbol_changed": "1994-10-17"
},
"entity_type": "gene",
"entity_name": "GFI1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"12778173"
],
"evidence": [
"Expert review Green",
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"613107 Neutropenia, severe congenital 2",
"Severe congenital neutropenic",
"Inherited Bone Marrow Failure Syndromes - Neutropenia",
"Neutropenia, Severe Congenital, 2 Autosomal Dominant",
"Neutropenia, Nonimmune Chronic Idiopathic, Of Adults",
"Neutropenia, severe congenital 2, autosomal dominant, 613107",
"607847 ?Neutropenia, nonimmune chronic idiopathic, of adults"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"HS1BP1",
"HCLSBP1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:16915",
"gene_name": "HCLS1 associated protein X-1",
"omim_gene": [
"605998"
],
"alias_name": [
"HCLS1 (and PKD2) associated protein"
],
"gene_symbol": "HAX1",
"hgnc_symbol": "HAX1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:154244987-154248351",
"ensembl_id": "ENSG00000143575"
}
},
"GRch38": {
"90": {
"location": "1:154272511-154275875",
"ensembl_id": "ENSG00000143575"
}
}
},
"hgnc_date_symbol_changed": "2005-05-19"
},
"entity_type": "gene",
"entity_name": "HAX1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"18611981",
"17187068",
"18337561"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Neutropenia, severe congenital 3, autosomal recessive, 610738",
"Severe congenital neutropenic",
"Inherited Bone Marrow Failure Syndromes - Neutropenia",
"610738 Neutropenia, severe congenital 3, autosomal recessive",
"610738 Neutropenia, severe congenital 3",
"Neutropenia, Severe Congenital, 3 Autosomal Dominant"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"GL009",
"FLJ14602"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:26926",
"gene_name": "jagunal homolog 1",
"omim_gene": [
"616012"
],
"alias_name": null,
"gene_symbol": "JAGN1",
"hgnc_symbol": "JAGN1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:9932238-9936033",
"ensembl_id": "ENSG00000171135"
}
},
"GRch38": {
"90": {
"location": "3:9890554-9894349",
"ensembl_id": "ENSG00000171135"
}
}
},
"hgnc_date_symbol_changed": "2005-01-19"
},
"entity_type": "gene",
"entity_name": "JAGN1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"11101832"
],
"evidence": [
"Expert Review Green",
"North West GLH",
"Yorkshire and North East GLH",
"NHS GMS",
"London South GLH"
],
"phenotypes": [
"616022 Neutropenia, severe congenital, 6",
"616022 Neutropenia, severe congenital, 6, autosomal recessive"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"EKLF"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6345",
"gene_name": "Kruppel like factor 1",
"omim_gene": [
"600599"
],
"alias_name": [
"erythroid Kruppel-like factor"
],
"gene_symbol": "KLF1",
"hgnc_symbol": "KLF1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:12995237-12997995",
"ensembl_id": "ENSG00000105610"
}
},
"GRch38": {
"90": {
"location": "19:12884423-12887181",
"ensembl_id": "ENSG00000105610"
}
}
},
"hgnc_date_symbol_changed": "1999-12-14"
},
"entity_type": "gene",
"entity_name": "KLF1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"21055716",
"29200155",
"24443441",
"25724378",
"27282573",
"28361594",
"28369821"
],
"evidence": [
"Expert Review Green",
"North West GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Dyserythropoietic anemia, congenital, type IV, OMIM:613673"
],
"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": [
"MDS1-EVI1",
"PRDM3",
"KMT8E"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3498",
"gene_name": "MDS1 and EVI1 complex locus",
"omim_gene": [
"165215"
],
"alias_name": [
"PR domain 3"
],
"gene_symbol": "MECOM",
"hgnc_symbol": "MECOM",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:168801287-169381406",
"ensembl_id": "ENSG00000085276"
}
},
"GRch38": {
"90": {
"location": "3:169083499-169663618",
"ensembl_id": "ENSG00000085276"
}
}
},
"hgnc_date_symbol_changed": "2009-08-07"
},
"entity_type": "gene",
"entity_name": "MECOM",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"29540340"
],
"evidence": [
"Expert review Green",
"Wessex and West Midlands GLH",
"Expert Review Green",
"North West GLH",
"Yorkshire and North East GLH",
"NHS GMS",
"London South GLH"
],
"phenotypes": [
"Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CD110",
"TPOR"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:7217",
"gene_name": "MPL proto-oncogene, thrombopoietin receptor",
"omim_gene": [
"159530"
],
"alias_name": null,
"gene_symbol": "MPL",
"hgnc_symbol": "MPL",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:43803478-43818443",
"ensembl_id": "ENSG00000117400"
}
},
"GRch38": {
"90": {
"location": "1:43337849-43352772",
"ensembl_id": "ENSG00000117400"
}
}
},
"hgnc_date_symbol_changed": "1990-09-10"
},
"entity_type": "gene",
"entity_name": "MPL",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"10077649",
"18024606"
],
"evidence": [
"Expert review Green",
"Wessex and West Midlands GLH",
"Expert Review Green",
"North West GLH",
"Yorkshire and North East GLH",
"NHS GMS",
"London South GLH"
],
"phenotypes": [
"Thrombocytopenia, congenital amegakaryocytic, OMIM:604498"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"KIAA1915"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:29401",
"gene_name": "Myb like, SWIRM and MPN domains 1",
"omim_gene": [
"612176"
],
"alias_name": null,
"gene_symbol": "MYSM1",
"hgnc_symbol": "MYSM1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:59120411-59165764",
"ensembl_id": "ENSG00000162601"
}
},
"GRch38": {
"90": {
"location": "1:58654739-58700092",
"ensembl_id": "ENSG00000162601"
}
}
},
"hgnc_date_symbol_changed": "2005-07-14"
},
"entity_type": "gene",
"entity_name": "MYSM1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"24288411",
"28115216",
"26220525",
"32640305",
"22184403"
],
"evidence": [
"Expert Review Green",
"NHS GMS",
"Yorkshire and North East GLH"
],
"phenotypes": [
"Bone marrow failure syndrome 4, 618116"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ20479"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:14377",
"gene_name": "NHP2 ribonucleoprotein",
"omim_gene": [
"606470"
],
"alias_name": null,
"gene_symbol": "NHP2",
"hgnc_symbol": "NHP2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "5:177576461-177580968",
"ensembl_id": "ENSG00000145912"
}
},
"GRch38": {
"90": {
"location": "5:178149460-178153967",
"ensembl_id": "ENSG00000145912"
}
}
},
"hgnc_date_symbol_changed": "2008-10-13"
},
"entity_type": "gene",
"entity_name": "NHP2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"18523010",
"31985013"
],
"evidence": [
"Expert Review Green",
"North West GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Dyskeratosis congenita, autosomal recessive 2, 613987"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"DAN"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8609",
"gene_name": "poly(A)-specific ribonuclease",
"omim_gene": [
"604212"
],
"alias_name": [
"deadenylation nuclease"
],
"gene_symbol": "PARN",
"hgnc_symbol": "PARN",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "16:14529558-14726585",
"ensembl_id": "ENSG00000140694"
}
},
"GRch38": {
"90": {
"location": "16:14435701-14632728",
"ensembl_id": "ENSG00000140694"
}
}
},
"hgnc_date_symbol_changed": "1998-07-23"
},
"entity_type": "gene",
"entity_name": "PARN",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25848748",
"26342108",
"25893599"
],
"evidence": [
"Expert Review Green",
"North West GLH",
"Yorkshire and North East GLH",
"NHS GMS",
"London South GLH"
],
"phenotypes": [
"Dyskeratosis congenita, autosomal recessive 6, OMIM:616353",
"Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"RMRPR",
"RRP2",
"NME1"
],
"biotype": null,
"hgnc_id": "HGNC:10031",
"gene_name": "RNA component of mitochondrial RNA processing endoribonuclease",
"omim_gene": [
"157660"
],
"alias_name": null,
"gene_symbol": "RMRP",
"hgnc_symbol": "RMRP",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "9:35657748-35658015",
"ensembl_id": "ENSG00000269900"
}
},
"GRch38": {
"90": {
"location": "9:35657751-35658018",
"ensembl_id": "ENSG00000269900"
}
}
},
"hgnc_date_symbol_changed": "1989-06-30"
},
"entity_type": "gene",
"entity_name": "RMRP",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"11207361",
"16832578"
],
"evidence": [
"Expert Review Green",
"North West GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Cartilage-hair hypoplasia",
"250250 Cartilage-hair hypoplasia",
"Severe congenital neutropenia"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"REPA1",
"RPA70",
"HSSB",
"RF-A",
"RP-A"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10289",
"gene_name": "replication protein A1",
"omim_gene": [
"179835"
],
"alias_name": null,
"gene_symbol": "RPA1",
"hgnc_symbol": "RPA1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:1732996-1803376",
"ensembl_id": "ENSG00000132383"
}
},
"GRch38": {
"90": {
"location": "17:1829702-1900082",
"ensembl_id": "ENSG00000132383"
}
}
},
"hgnc_date_symbol_changed": "1993-12-14"
},
"entity_type": "gene",
"entity_name": "RPA1",
"confidence_level": "3",
"penetrance": "Incomplete",
"mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"publications": [
"34767620"
],
"evidence": [
"NHS GMS",
"Expert Review Green",
"Literature"
],
"phenotypes": [
"Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, OMIM:619767"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"L11"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10301",
"gene_name": "ribosomal protein L11",
"omim_gene": [
"604175"
],
"alias_name": null,
"gene_symbol": "RPL11",
"hgnc_symbol": "RPL11",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:24018269-24022915",
"ensembl_id": "ENSG00000142676"
}
},
"GRch38": {
"90": {
"location": "1:23691779-23696425",
"ensembl_id": "ENSG00000142676"
}
}
},
"hgnc_date_symbol_changed": "1998-07-23"
},
"entity_type": "gene",
"entity_name": "RPL11",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"19191325",
"19061985",
"23718193",
"23812780"
],
"evidence": [
"Expert Review Green",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Diamond_Blackfan Anemia 7",
"Diamond-Blackfan Anemia",
"DIAMOND-BLACKFAN ANEMIA 7",
"Diamond-Blackfan anemia 7, 612562",
"Inherited Bone Marrow Failure Syndromes",
"Diamond Blackfan anemia"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"RPL10",
"RPLY10",
"RPYL10",
"EC45",
"L15"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10306",
"gene_name": "ribosomal protein L15",
"omim_gene": [
"604174"
],
"alias_name": null,
"gene_symbol": "RPL15",
"hgnc_symbol": "RPL15",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:23958036-23965183",
"ensembl_id": "ENSG00000174748"
}
},
"GRch38": {
"90": {
"location": "3:23916545-23923692",
"ensembl_id": "ENSG00000174748"
}
}
},
"hgnc_date_symbol_changed": "1998-07-23"
},
"entity_type": "gene",
"entity_name": "RPL15",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"23812780",
"19438500",
"29599205"
],
"evidence": [
"Expert Review Green",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"?Diamond-Blackfan anemia 12, 615550"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"L35A"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10345",
"gene_name": "ribosomal protein L35a",
"omim_gene": [
"180468"
],
"alias_name": null,
"gene_symbol": "RPL35A",
"hgnc_symbol": "RPL35A",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:197676858-197683481",
"ensembl_id": "ENSG00000182899"
}
},
"GRch38": {
"90": {
"location": "3:197949987-197956610",
"ensembl_id": "ENSG00000182899"
}
}
},
"hgnc_date_symbol_changed": "1991-11-29"
},
"entity_type": "gene",
"entity_name": "RPL35A",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25946618",
"18535205"
],
"evidence": [
"Expert Review Green",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Diamond-Blackfan anemia 5, 612528",
"Diamond-Blackfan Anemia",
"DIAMOND-BLACKFAN ANEMIA 5",
"Inherited Bone Marrow Failure Syndromes",
"Diamond Blackfan Anemia 5",
"Diamond Blackfan anemia"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"L5",
"PPP1R135"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10360",
"gene_name": "ribosomal protein L5",
"omim_gene": [
"603634"
],
"alias_name": [
"protein phosphatase 1, regulatory subunit 135"
],
"gene_symbol": "RPL5",
"hgnc_symbol": "RPL5",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:93297582-93307481",
"ensembl_id": "ENSG00000122406"
}
},
"GRch38": {
"90": {
"location": "1:92832025-92841924",
"ensembl_id": "ENSG00000122406"
}
}
},
"hgnc_date_symbol_changed": "1995-09-08"
},
"entity_type": "gene",
"entity_name": "RPL5",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25946618",
"19191325",
"19061985"
],
"evidence": [
"Expert Review Green",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Diamond-Blackfan anemia 6, 612561",
"DIAMOND-BLACKFAN ANEMIA 6",
"Diamond Blackfan Anemia 6",
"Diamond-Blackfan Anemia",
"Inherited Bone Marrow Failure Syndromes",
"Diamond Blackfan anemia"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"MGC88819",
"S10"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10383",
"gene_name": "ribosomal protein S10",
"omim_gene": [
"603632"
],
"alias_name": null,
"gene_symbol": "RPS10",
"hgnc_symbol": "RPS10",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:34385231-34393902",
"ensembl_id": "ENSG00000124614"
}
},
"GRch38": {
"90": {
"location": "6:34417454-34426125",
"ensembl_id": "ENSG00000124614"
}
}
},
"hgnc_date_symbol_changed": "1997-07-07"
},
"entity_type": "gene",
"entity_name": "RPS10",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25946618",
"20116044",
"23718193"
],
"evidence": [
"Expert Review Green",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Inherited Bone Marrow Failure Syndromes",
"Diamond_Blackfan Anemia 9",
"Diamond-Blackfan Anemia",
"Diamond-Blackfan anemia 9, 613308",
"DIAMOND-BLACKFAN ANEMIA 9",
"Diamond Blackfan anemia"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"RPS17L1",
"RPS17L2",
"MGC72007",
"S17"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10397",
"gene_name": "ribosomal protein S17",
"omim_gene": [
"180472"
],
"alias_name": null,
"gene_symbol": "RPS17",
"hgnc_symbol": "RPS17",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "15:83205504-83209315",
"ensembl_id": "ENSG00000182774"
}
},
"GRch38": {
"90": {
"location": "15:82536753-82540564",
"ensembl_id": "ENSG00000182774"
}
}
},
"hgnc_date_symbol_changed": "1991-11-29"
},
"entity_type": "gene",
"entity_name": "RPS17",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"22045982",
"19953637",
"17647292",
"19061985",
"23812780"
],
"evidence": [
"Expert Review Green",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Diamond-Blackfan anemia 4, 612527"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"DBA",
"S19"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10402",
"gene_name": "ribosomal protein S19",
"omim_gene": [
"603474"
],
"alias_name": [
"Diamond-Blackfan anemia"
],
"gene_symbol": "RPS19",
"hgnc_symbol": "RPS19",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:42363988-42376994",
"ensembl_id": "ENSG00000105372"
}
},
"GRch38": {
"90": {
"location": "19:41859918-41872926",
"ensembl_id": "ENSG00000105372"
}
}
},
"hgnc_date_symbol_changed": "1998-07-22"
},
"entity_type": "gene",
"entity_name": "RPS19",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25946618",
"24675553",
"15384984",
"9988267"
],
"evidence": [
"Expert Review Green",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Diamond_Blackfan Anemia",
"Diamond-Blackfan anemia 1, 105650",
"DIAMOND-BLACKFAN ANEMIA 1",
"Diamond-Blackfan Anemia",
"Inherited Bone Marrow Failure Syndromes",
"Diamond Blackfan anemia"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"S24"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10411",
"gene_name": "ribosomal protein S24",
"omim_gene": [
"602412"
],
"alias_name": null,
"gene_symbol": "RPS24",
"hgnc_symbol": "RPS24",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:79793518-79816570",
"ensembl_id": "ENSG00000138326"
}
},
"GRch38": {
"90": {
"location": "10:78033760-78056812",
"ensembl_id": "ENSG00000138326"
}
}
},
"hgnc_date_symbol_changed": "1990-08-22"
},
"entity_type": "gene",
"entity_name": "RPS24",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"17186470",
"19689926",
"19773262",
"25946618",
"8647458",
"2210388",
"23812780"
],
"evidence": [
"Expert Review Green",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Diamond_Blackfan Anemia 3",
"DIAMOND-BLACKFAN ANEMIA 3",
"Diamond-Blackfan Anemia",
"Inherited Bone Marrow Failure Syndromes",
"Diamond-blackfan anemia 3, 610629",
"Diamond Blackfan anemia"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"S26"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10414",
"gene_name": "ribosomal protein S26",
"omim_gene": [
"603701"
],
"alias_name": [
"40S ribosomal protein S26"
],
"gene_symbol": "RPS26",
"hgnc_symbol": "RPS26",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:56435637-56438116",
"ensembl_id": "ENSG00000197728"
}
},
"GRch38": {
"90": {
"location": "12:56041853-56044675",
"ensembl_id": "ENSG00000197728"
}
}
},
"hgnc_date_symbol_changed": "1993-01-19"
},
"entity_type": "gene",
"entity_name": "RPS26",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"24675553",
"25946618",
"24942156",
"20116044",
"23812780"
],
"evidence": [
"Expert Review Green",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Inherited Bone Marrow Failure Syndromes",
"Diamond-Blackfan anemia 10",
"Diamond-Blackfan Anemia",
"Diamond-Blackfan anemia 10, 613309",
"Diamond Blackfan anemia"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"S29"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10419",
"gene_name": "ribosomal protein S29",
"omim_gene": [
"603633"
],
"alias_name": null,
"gene_symbol": "RPS29",
"hgnc_symbol": "RPS29",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "14:50043390-50065408",
"ensembl_id": "ENSG00000213741"
}
},
"GRch38": {
"90": {
"location": "14:49570984-49599164",
"ensembl_id": "ENSG00000213741"
}
}
},
"hgnc_date_symbol_changed": "1997-07-04"
},
"entity_type": "gene",
"entity_name": "RPS29",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"24829207"
],
"evidence": [
"Expert Review Green",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Diamond-Blackfan anemia 13, 615909",
"Diamond-Blackfan anaemia"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"S7"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10440",
"gene_name": "ribosomal protein S7",
"omim_gene": [
"603658"
],
"alias_name": null,
"gene_symbol": "RPS7",
"hgnc_symbol": "RPS7",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:3622795-3628509",
"ensembl_id": "ENSG00000171863"
}
},
"GRch38": {
"90": {
"location": "2:3575205-3580919",
"ensembl_id": "ENSG00000171863"
}
}
},
"hgnc_date_symbol_changed": "1997-07-07"
},
"entity_type": "gene",
"entity_name": "RPS7",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25946618",
"23718193",
"27882484",
"19061985"
],
"evidence": [
"Expert Review Green",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"DIAMOND-BLACKFAN ANEMIA 8",
"Diamond_Blackfan Anemia 8",
"Diamond-Blackfan anemia 8, 612563",
"Diamond-Blackfan Anemia",
"Inherited Bone Marrow Failure Syndromes",
"Diamond Blackfan anemia"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"bK3184A7.3",
"NHL",
"DKFZP434C013",
"KIAA1088",
"RTEL"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:15888",
"gene_name": "regulator of telomere elongation helicase 1",
"omim_gene": [
"608833"
],
"alias_name": null,
"gene_symbol": "RTEL1",
"hgnc_symbol": "RTEL1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "20:62289163-62328416",
"ensembl_id": "ENSG00000258366"
}
},
"GRch38": {
"90": {
"location": "20:63657810-63696253",
"ensembl_id": "ENSG00000258366"
}
}
},
"hgnc_date_symbol_changed": "2004-10-29"
},
"entity_type": "gene",
"entity_name": "RTEL1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"23453664",
"23329068",
"23959892"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related",
"615190 Dyskeratosis congenita",
"616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3",
"615190 DC type 4 and 5",
"Dyskeratosis congenita, autosomal dominant 4, 615190",
"Dyskeratosis congenita, autosomal recessive 5, 615190",
"Dyskeratosis congenita, autosomal recessive 5 615190"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"KIAA2004",
"FLJ20073"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1348",
"gene_name": "sterile alpha motif domain containing 9",
"omim_gene": [
"610456"
],
"alias_name": null,
"gene_symbol": "SAMD9",
"hgnc_symbol": "SAMD9",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:92728829-92747336",
"ensembl_id": "ENSG00000205413"
}
},
"GRch38": {
"90": {
"location": "7:93099513-93118023",
"ensembl_id": "ENSG00000205413"
}
}
},
"hgnc_date_symbol_changed": "2004-07-16"
},
"entity_type": "gene",
"entity_name": "SAMD9",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"27182967"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"MIRAGE syndrome, 617053",
"617053 MIRAGE syndrome"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"KIAA2005",
"FLJ39885"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1349",
"gene_name": "sterile alpha motif domain containing 9 like",
"omim_gene": [
"611170"
],
"alias_name": null,
"gene_symbol": "SAMD9L",
"hgnc_symbol": "SAMD9L",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:92759368-92777682",
"ensembl_id": "ENSG00000177409"
}
},
"GRch38": {
"90": {
"location": "7:93130055-93148369",
"ensembl_id": "ENSG00000177409"
}
}
},
"hgnc_date_symbol_changed": "2005-04-26"
},
"entity_type": "gene",
"entity_name": "SAMD9L",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"27259050"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"159550 Ataxia-pancytopenia syndrome",
"Ataxia-pancytopenia syndrome, 159550"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CGI-97",
"FLJ10917",
"SDS",
"SWDS"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:19440",
"gene_name": "SBDS, ribosome maturation factor",
"omim_gene": [
"607444"
],
"alias_name": null,
"gene_symbol": "SBDS",
"hgnc_symbol": "SBDS",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:66452664-66460588",
"ensembl_id": "ENSG00000126524"
}
},
"GRch38": {
"90": {
"location": "7:66987677-66995601",
"ensembl_id": "ENSG00000126524"
}
}
},
"hgnc_date_symbol_changed": "2003-07-02"
},
"entity_type": "gene",
"entity_name": "SBDS",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"12496757"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Shwachman-Diamond syndrome, 260400",
"260400 Shwachman-Diamond syndrome",
"Shwachman-Diamond syndrome 260400"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"ASV",
"c-src"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11283",
"gene_name": "SRC proto-oncogene, non-receptor tyrosine kinase",
"omim_gene": [
"190090"
],
"alias_name": null,
"gene_symbol": "SRC",
"hgnc_symbol": "SRC",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "20:35973088-36034453",
"ensembl_id": "ENSG00000197122"
}
},
"GRch38": {
"90": {
"location": "20:37344685-37406050",
"ensembl_id": "ENSG00000197122"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "SRC",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Green",
"Expert review Green",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"?Thrombocytopenia 6, 616937"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11301",
"gene_name": "signal recognition particle 54",
"omim_gene": [
"604857"
],
"alias_name": null,
"gene_symbol": "SRP54",
"hgnc_symbol": "SRP54",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "14:35451163-35498773",
"ensembl_id": "ENSG00000100883"
}
},
"GRch38": {
"90": {
"location": "14:34981957-35029567",
"ensembl_id": "ENSG00000100883"
}
}
},
"hgnc_date_symbol_changed": "1991-12-05"
},
"entity_type": "gene",
"entity_name": "SRP54",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"28972538",
"29914977",
"32277798"
],
"evidence": [
"Expert Review Green",
"Expert list"
],
"phenotypes": [
"Neutropenia, severe congenital, 8, autosomal dominant, 618752"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ22559",
"bA541N10.2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:26200",
"gene_name": "STN1, CST complex subunit",
"omim_gene": [
"613128"
],
"alias_name": null,
"gene_symbol": "STN1",
"hgnc_symbol": "STN1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:105642300-105677963",
"ensembl_id": "ENSG00000107960"
}
},
"GRch38": {
"90": {
"location": "10:103882542-103918205",
"ensembl_id": "ENSG00000107960"
}
}
},
"hgnc_date_symbol_changed": "2016-10-04"
},
"entity_type": "gene",
"entity_name": "STN1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"27432940",
"32627942"
],
"evidence": [
"Expert Review Green",
"Literature"
],
"phenotypes": [
"Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM:617341"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": []
},
{
"gene_data": {
"alias": [
"BTHS",
"XAP-2",
"G4.5",
"TAZ1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11577",
"gene_name": "tafazzin",
"omim_gene": [
"300394"
],
"alias_name": [
"Barth syndrome"
],
"gene_symbol": "TAZ",
"hgnc_symbol": "TAZ",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:153639854-153650065",
"ensembl_id": "ENSG00000102125"
}
},
"GRch38": {
"90": {
"location": "X:154411518-154421726",
"ensembl_id": "ENSG00000102125"
}
}
},
"hgnc_date_symbol_changed": "1989-05-29"
},
"entity_type": "gene",
"entity_name": "TAZ",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"9345098",
"9382096"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Barth syndrome, 302060",
"302060 Barth syndrome"
],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"tags": [
"new-gene-name"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"TR",
"hTR",
"TRC3",
"SCARNA19"
],
"biotype": "lincRNA",
"hgnc_id": "HGNC:11727",
"gene_name": "telomerase RNA component",
"omim_gene": [
"602322"
],
"alias_name": [
"small Cajal body-specific RNA 19"
],
"gene_symbol": "TERC",
"hgnc_symbol": "TERC",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:169482308-169482848",
"ensembl_id": "ENSG00000270141"
}
},
"GRch38": {
"90": {
"location": "3:169764520-169765060",
"ensembl_id": "ENSG00000270141"
}
}
},
"hgnc_date_symbol_changed": "1997-07-25"
},
"entity_type": "gene",
"entity_name": "TERC",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"11574891",
"12090986"
],
"evidence": [
"Expert Review Green",
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia",
"614743 pulmonary fibrosis and/or bone marrow failure",
"129550 Dyskeratosis congenita, autosomal dominant 1",
"Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2",
"Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1",
"DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1",
"127550 Dyskeratosis congenita, autosomal dominant 1",
"Dyskeratosis congenita",
"Dyskeratosis Congenita, Autosomal Dominant, 1",
"Inherited Bone Marrow Failure Syndromes"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"TRT",
"TP2",
"TCS1",
"hEST2",
"EST2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11730",
"gene_name": "telomerase reverse transcriptase",
"omim_gene": [
"187270"
],
"alias_name": null,
"gene_symbol": "TERT",
"hgnc_symbol": "TERT",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "5:1253262-1295184",
"ensembl_id": "ENSG00000164362"
}
},
"GRch38": {
"90": {
"location": "5:1253147-1295069",
"ensembl_id": "ENSG00000164362"
}
}
},
"hgnc_date_symbol_changed": "1998-01-21"
},
"entity_type": "gene",
"entity_name": "TERT",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"21436073",
"18460650",
"18042801"
],
"evidence": [
"Expert Review Green",
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Dyskeratosis congenita, autosomal dominant 2, OMIM:613989",
"Dyskeratosis congenita, autosomal recessive 4, OMIM:613989",
"Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"TPO",
"MPLLG"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11795",
"gene_name": "thrombopoietin",
"omim_gene": [
"600044"
],
"alias_name": [
"prepro-thrombopoietin",
"megakaryocyte stimulating factor",
"myeloproliferative leukemia virus oncogene ligand",
"megakaryocyte growth and development factor",
"MPL ligand",
"megakaryocyte colony-stimulating factor",
"c-mpl ligand",
"thrombopoietin nirs variant 1"
],
"gene_symbol": "THPO",
"hgnc_symbol": "THPO",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:184089723-184095932",
"ensembl_id": "ENSG00000090534"
}
},
"GRch38": {
"90": {
"location": "3:184371935-184378144",
"ensembl_id": "ENSG00000090534"
}
}
},
"hgnc_date_symbol_changed": "1994-11-04"
},
"entity_type": "gene",
"entity_name": "THPO",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"24085763",
"28466964",
"28559357",
"29191945"
],
"evidence": [
"Expert review Green",
"Wessex and West Midlands GLH",
"North West GLH",
"Yorkshire and North East GLH",
"Expert Review Green",
"NHS GMS",
"London South GLH"
],
"phenotypes": [
"187950 Thrombocythemia 1",
"Thrombocythemia 1, 187950"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"TIN2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11824",
"gene_name": "TERF1 interacting nuclear factor 2",
"omim_gene": [
"604319"
],
"alias_name": null,
"gene_symbol": "TINF2",
"hgnc_symbol": "TINF2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "14:24708849-24711880",
"ensembl_id": "ENSG00000092330"
}
},
"GRch38": {
"90": {
"location": "14:24239643-24242674",
"ensembl_id": "ENSG00000092330"
}
}
},
"hgnc_date_symbol_changed": "1999-11-19"
},
"entity_type": "gene",
"entity_name": "TINF2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"18669893",
"21536674"
],
"evidence": [
"Expert Review Green",
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Dyskeratosis congenita, autosomal dominant 3, 613990",
"Revesz syndrome, 268130",
"Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ13154",
"HVSL1",
"Mpn1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:25792",
"gene_name": "U6 snRNA biogenesis phosphodiesterase 1",
"omim_gene": [
"613276"
],
"alias_name": [
"HVSL motif containing 1",
"poikiloderma with neutropenia",
"U six biogenesis 1",
"mutated in poikiloderma with neutropenia protein 1"
],
"gene_symbol": "USB1",
"hgnc_symbol": "USB1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "16:58033450-58055522",
"ensembl_id": "ENSG00000103005"
}
},
"GRch38": {
"90": {
"location": "16:57999546-58021618",
"ensembl_id": "ENSG00000103005"
}
}
},
"hgnc_date_symbol_changed": "2012-08-21"
},
"entity_type": "gene",
"entity_name": "USB1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"20503306",
"20004881"
],
"evidence": [
"Expert Review Green",
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Poikiloderma with neutropenia, 604173",
"604173 Poikiloderma with neutropenia",
"Dyskeratosis congenita"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"h-vps45",
"H1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:14579",
"gene_name": "vacuolar protein sorting 45 homolog",
"omim_gene": [
"610035"
],
"alias_name": null,
"gene_symbol": "VPS45",
"hgnc_symbol": "VPS45",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:150039369-150117505",
"ensembl_id": "ENSG00000136631"
}
},
"GRch38": {
"90": {
"location": "1:150067293-150145327",
"ensembl_id": "ENSG00000136631"
}
}
},
"hgnc_date_symbol_changed": "2006-12-19"
},
"entity_type": "gene",
"entity_name": "VPS45",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"23738510",
"23599270"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"615285 Neutropenia, severe congenital, 5",
"VPS45 deficiency",
"Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome",
"Neutropenia, severe congenital, 5, autosomal recessive, 615285",
"615285 Neutropenia, severe congenital, 5, autosomal recessive",
"Severe congenital neutropenia"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"WASP",
"WASPA"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:12731",
"gene_name": "Wiskott-Aldrich syndrome",
"omim_gene": [
"300392"
],
"alias_name": [
"eczema-thrombocytopenia"
],
"gene_symbol": "WAS",
"hgnc_symbol": "WAS",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:48534985-48549818",
"ensembl_id": "ENSG00000015285"
}
},
"GRch38": {
"90": {
"location": "X:48676596-48691427",
"ensembl_id": "ENSG00000015285"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "WAS",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"8528199",
"8757563",
"11167787"
],
"evidence": [
"Expert review Green",
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"313900 Thrombocytopenia, X-linked",
"Neutropenia, severe congenital, X-linked, 300299",
"Thrombocytopenia, X-linked, intermittent 313900",
"313900 Thrombocytopenia",
"Wiskott-Aldrich syndrome, 301000",
"Thrombocytopenia, X-linked 313900",
"Thrombocytopenia, X-linked, intermittent, 313900"
],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"WIP"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:12736",
"gene_name": "WAS/WASL interacting protein family member 1",
"omim_gene": [
"602357"
],
"alias_name": null,
"gene_symbol": "WIPF1",
"hgnc_symbol": "WIPF1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:175424300-175547644",
"ensembl_id": "ENSG00000115935"
}
},
"GRch38": {
"90": {
"location": "2:174559572-174682916",
"ensembl_id": "ENSG00000115935"
}
}
},
"hgnc_date_symbol_changed": "2006-10-12"
},
"entity_type": "gene",
"entity_name": "WIPF1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"27742395",
"11869681",
"22231303",
"14757742",
"9405671"
],
"evidence": [
"Expert Review Green",
"North West GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"WIP deficiency",
"Wiskott-Aldrich syndrome like, WIP deficiency",
"?Wiskott-Aldrich syndrome 2, 614493",
"Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent",
"?Wiskott-Aldrich syndrome 2, 614493"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ10385",
"TCAB1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:25522",
"gene_name": "WD repeat containing antisense to TP53",
"omim_gene": [
"612661"
],
"alias_name": [
"telomerase cajal body protein 1",
"WD-encoding RNA antisense to p53"
],
"gene_symbol": "WRAP53",
"hgnc_symbol": "WRAP53",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:7589389-7606820",
"ensembl_id": "ENSG00000141499"
}
},
"GRch38": {
"90": {
"location": "17:7686071-7703502",
"ensembl_id": "ENSG00000141499"
}
}
},
"hgnc_date_symbol_changed": "2009-02-16"
},
"entity_type": "gene",
"entity_name": "WRAP53",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"29514627",
"21205863"
],
"evidence": [
"Expert Review Green",
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Dyskeratosis congenita, autosomal recessive 3, 613988",
"613988 Dyskeratosis congenita, autosomal recessive 3",
"Dyskeratosis Congenita, Recessive",
"300299 Neutropenia, severe congenital, X-linked",
"Dyskeratosis congenita",
"Dyskeratosis Congenita, Autosomal Recessive, 3",
"Inherited Bone Marrow Failure Syndromes"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"STSL"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:13886",
"gene_name": "ATP binding cassette subfamily G member 5",
"omim_gene": [
"605459"
],
"alias_name": [
"sterolin 1"
],
"gene_symbol": "ABCG5",
"hgnc_symbol": "ABCG5",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:44039611-44066004",
"ensembl_id": "ENSG00000138075"
}
},
"GRch38": {
"90": {
"location": "2:43812472-43838865",
"ensembl_id": "ENSG00000138075"
}
}
},
"hgnc_date_symbol_changed": "2000-12-12"
},
"entity_type": "gene",
"entity_name": "ABCG5",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Amber",
"Expert review Amber",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Sitosterolemia with macrothrombocytopenia",
"Sitosterolemia, 210250"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"GBD4"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:13887",
"gene_name": "ATP binding cassette subfamily G member 8",
"omim_gene": [
"605460"
],
"alias_name": [
"gallbladder disease 4",
"sterolin 2"
],
"gene_symbol": "ABCG8",
"hgnc_symbol": "ABCG8",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:44066103-44105605",
"ensembl_id": "ENSG00000143921"
}
},
"GRch38": {
"90": {
"location": "2:43838964-43878466",
"ensembl_id": "ENSG00000143921"
}
}
},
"hgnc_date_symbol_changed": "2000-12-12"
},
"entity_type": "gene",
"entity_name": "ABCG8",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Amber",
"Expert review Amber",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Sitosterolemia with macrothrombocytopenia",
"Sitosterolemia, 210250"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CCBP1",
"GPD",
"Dfy",
"CD234"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4035",
"gene_name": "atypical chemokine receptor 1 (Duffy blood group)",
"omim_gene": [
"613665"
],
"alias_name": [
"atypical chemokine receptor 1"
],
"gene_symbol": "ACKR1",
"hgnc_symbol": "ACKR1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:159173097-159176290",
"ensembl_id": "ENSG00000213088"
}
},
"GRch38": {
"90": {
"location": "1:159203307-159206500",
"ensembl_id": "ENSG00000213088"
}
}
},
"hgnc_date_symbol_changed": "2014-04-04"
},
"entity_type": "gene",
"entity_name": "ACKR1",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Amber",
"NHS GMS",
"London South GLH"
],
"phenotypes": [
"613665 Benign hereditary neutropenia"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:163",
"gene_name": "actinin alpha 1",
"omim_gene": [
"102575"
],
"alias_name": null,
"gene_symbol": "ACTN1",
"hgnc_symbol": "ACTN1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "14:69340860-69446157",
"ensembl_id": "ENSG00000072110"
}
},
"GRch38": {
"90": {
"location": "14:68874143-68979440",
"ensembl_id": "ENSG00000072110"
}
}
},
"hgnc_date_symbol_changed": "1990-08-21"
},
"entity_type": "gene",
"entity_name": "ACTN1",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Amber",
"Expert review Amber",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Bleeding disorder, platelet-type, 15, 615193",
"Macrothrombocytopenia"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"VWFCP",
"TTP",
"vWF-CP",
"FLJ42993",
"MGC118899",
"MGC118900",
"DKFZp434C2322"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1366",
"gene_name": "ADAM metallopeptidase with thrombospondin type 1 motif 13",
"omim_gene": [
"604134"
],
"alias_name": null,
"gene_symbol": "ADAMTS13",
"hgnc_symbol": "ADAMTS13",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "9:136279478-136324508",
"ensembl_id": "ENSG00000160323"
}
},
"GRch38": {
"90": {
"location": "9:133414358-133459402",
"ensembl_id": "ENSG00000160323"
}
}
},
"hgnc_date_symbol_changed": "2001-09-21"
},
"entity_type": "gene",
"entity_name": "ADAMTS13",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Amber",
"Expert review Amber",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"ADTB3A",
"HPS2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:566",
"gene_name": "adaptor related protein complex 3 beta 1 subunit",
"omim_gene": [
"603401"
],
"alias_name": null,
"gene_symbol": "AP3B1",
"hgnc_symbol": "AP3B1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "5:77296349-77590579",
"ensembl_id": "ENSG00000132842"
}
},
"GRch38": {
"90": {
"location": "5:78000525-78294755",
"ensembl_id": "ENSG00000132842"
}
}
},
"hgnc_date_symbol_changed": "2000-09-01"
},
"entity_type": "gene",
"entity_name": "AP3B1",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Amber",
"Expert review Amber",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Hermansky-Pudlak syndrome 2, 608233"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CMKAR2",
"CD182"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6027",
"gene_name": "C-X-C motif chemokine receptor 2",
"omim_gene": [
"146928"
],
"alias_name": null,
"gene_symbol": "CXCR2",
"hgnc_symbol": "CXCR2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:218990012-219001976",
"ensembl_id": "ENSG00000180871"
}
},
"GRch38": {
"90": {
"location": "2:218125289-218137253",
"ensembl_id": "ENSG00000180871"
}
}
},
"hgnc_date_symbol_changed": "2009-11-25"
},
"entity_type": "gene",
"entity_name": "CXCR2",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"24777453",
"34854278"
],
"evidence": [
"Expert Review Amber",
"Literature"
],
"phenotypes": [
"?WHIM syndrome 2, OMIM:619407"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"Q4_23_promote_green",
"Q4_23_NHS_review"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"dUTPase"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3078",
"gene_name": "deoxyuridine triphosphatase",
"omim_gene": [
"601266"
],
"alias_name": [
"dUTP diphosphatase"
],
"gene_symbol": "DUT",
"hgnc_symbol": "DUT",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "15:48623208-48635570",
"ensembl_id": "ENSG00000128951"
}
},
"GRch38": {
"90": {
"location": "15:48331011-48343373",
"ensembl_id": "ENSG00000128951"
}
}
},
"hgnc_date_symbol_changed": "1995-09-28"
},
"entity_type": "gene",
"entity_name": "DUT",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"28073829",
"35611808",
"35931051"
],
"evidence": [
"Literature",
"Expert Review Amber"
],
"phenotypes": [
"Bone marrow failure and diabetes mellitus syndrome, OMIM:620044"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"Q4_23_promote_green"
],
"transcript": []
},
{
"gene_data": {
"alias": [
"SIC-1",
"EWSR2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3749",
"gene_name": "Fli-1 proto-oncogene, ETS transcription factor",
"omim_gene": [
"193067"
],
"alias_name": null,
"gene_symbol": "FLI1",
"hgnc_symbol": "FLI1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:128556430-128683162",
"ensembl_id": "ENSG00000151702"
}
},
"GRch38": {
"90": {
"location": "11:128686535-128813267",
"ensembl_id": "ENSG00000151702"
}
}
},
"hgnc_date_symbol_changed": "1991-06-05"
},
"entity_type": "gene",
"entity_name": "FLI1",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Amber",
"Expert review Amber",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Bleeding disorder, platelet-type, 21, 617443"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CD42b",
"GPIbalpha"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4439",
"gene_name": "glycoprotein Ib platelet alpha subunit",
"omim_gene": [
"606672"
],
"alias_name": [
"platelet glycoprotein Ib alpha chain"
],
"gene_symbol": "GP1BA",
"hgnc_symbol": "GP1BA",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:4835592-4838325",
"ensembl_id": "ENSG00000185245"
}
},
"GRch38": {
"90": {
"location": "17:4932297-4935030",
"ensembl_id": "ENSG00000185245"
}
}
},
"hgnc_date_symbol_changed": "1990-09-10"
},
"entity_type": "gene",
"entity_name": "GP1BA",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"2308962"
],
"evidence": [
"Expert Review Amber",
"Expert review Amber",
"North West GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH",
"NHS GMS",
"London South GLH"
],
"phenotypes": [
"Bernard-Soulier syndrome, type A1, 231200",
"Mild macrothrombocytopenia",
"Platelet type VWD, mild thrombocytopenia"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CD42c",
"GPIbbeta"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4440",
"gene_name": "glycoprotein Ib platelet beta subunit",
"omim_gene": [
"138720"
],
"alias_name": [
"platelet glycoprotein Ib beta chain"
],
"gene_symbol": "GP1BB",
"hgnc_symbol": "GP1BB",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "22:19710468-19712294",
"ensembl_id": "ENSG00000203618"
}
},
"GRch38": {
"90": {
"location": "22:19722945-19724771",
"ensembl_id": "ENSG00000203618"
}
}
},
"hgnc_date_symbol_changed": "1991-11-21"
},
"entity_type": "gene",
"entity_name": "GP1BB",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"9116284",
"24934643",
"28064200",
"29527674",
"30609015",
"33657022",
"33813986"
],
"evidence": [
"Expert Review Amber",
"Expert review Amber",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Bernard-Soulier syndrome, type B, OMIM:231200",
"Giant platelet disorder, isolated, OMIM:231200",
"Macrothrombocytopenia"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CD42a",
"GPIX"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4444",
"gene_name": "glycoprotein IX platelet",
"omim_gene": [
"173515"
],
"alias_name": [
"platelet glycoprotein IX"
],
"gene_symbol": "GP9",
"hgnc_symbol": "GP9",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:128779610-128781249",
"ensembl_id": "ENSG00000169704"
}
},
"GRch38": {
"90": {
"location": "3:129060767-129062406",
"ensembl_id": "ENSG00000169704"
}
}
},
"hgnc_date_symbol_changed": "1991-03-04"
},
"entity_type": "gene",
"entity_name": "GP9",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Amber",
"Expert review Amber",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Bernard-Soulier syndrome (includes macrothrombocytopenia)",
"Bernard-Soulier syndrome, type C, 231200"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"hIk-1",
"LyF-1",
"Hs.54452",
"IKAROS",
"PPP1R92"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:13176",
"gene_name": "IKAROS family zinc finger 1",
"omim_gene": [
"603023"
],
"alias_name": [
"protein phosphatase 1, regulatory subunit 92"
],
"gene_symbol": "IKZF1",
"hgnc_symbol": "IKZF1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:50343720-50472799",
"ensembl_id": "ENSG00000185811"
}
},
"GRch38": {
"90": {
"location": "7:50304124-50405101",
"ensembl_id": "ENSG00000185811"
}
}
},
"hgnc_date_symbol_changed": "2006-08-25"
},
"entity_type": "gene",
"entity_name": "IKZF1",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Amber",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Acute lymphoblastic leukemia (ALL)",
"Immunodeficiency, common variable, 13,616873"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"MKLP1",
"MKLP-1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6392",
"gene_name": "kinesin family member 23",
"omim_gene": [
"605064"
],
"alias_name": null,
"gene_symbol": "KIF23",
"hgnc_symbol": "KIF23",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "15:69706585-69740764",
"ensembl_id": "ENSG00000137807"
}
},
"GRch38": {
"90": {
"location": "15:69414246-69448427",
"ensembl_id": "ENSG00000137807"
}
}
},
"hgnc_date_symbol_changed": "2003-01-17"
},
"entity_type": "gene",
"entity_name": "KIF23",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"7711721",
"7323912",
"23570799"
],
"evidence": [
"Expert Review Amber",
"North West GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"CDA III",
"Congenital dyserythropoietic anemia (CDA)",
"Congenital dyserythropoietic anemia type III",
"Enzyme Disorder"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"LAT1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:18874",
"gene_name": "linker for activation of T-cells",
"omim_gene": [
"602354"
],
"alias_name": [
"linker for activation of T cells, transmembrane adaptor"
],
"gene_symbol": "LAT",
"hgnc_symbol": "LAT",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "16:28996147-29002104",
"ensembl_id": "ENSG00000213658"
}
},
"GRch38": {
"90": {
"location": "16:28984826-28990783",
"ensembl_id": "ENSG00000213658"
}
}
},
"hgnc_date_symbol_changed": "2002-07-12"
},
"entity_type": "gene",
"entity_name": "LAT",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"27522155",
"27242165"
],
"evidence": [
"North West GLH",
"NHS GMS",
"Expert Review Amber",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Immunodeficiency 52, 617514"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ14813",
"THC2",
"Gwl"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:19042",
"gene_name": "microtubule associated serine/threonine kinase like",
"omim_gene": [
"608221"
],
"alias_name": [
"greatwall kinase homolog"
],
"gene_symbol": "MASTL",
"hgnc_symbol": "MASTL",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:27443753-27475853",
"ensembl_id": "ENSG00000120539"
}
},
"GRch38": {
"90": {
"location": "10:27154824-27186924",
"ensembl_id": "ENSG00000120539"
}
}
},
"hgnc_date_symbol_changed": "2004-02-10"
},
"entity_type": "gene",
"entity_name": "MASTL",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"10891439",
"26136524",
"22102272"
],
"evidence": [
"London South GLH",
"NHS GMS",
"Expert Review Amber",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"severe aplastic anemia",
"Thrombocytopenia"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"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": "2017-11-03",
"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": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"20174760"
],
"evidence": [
"Expert Review Amber",
"Expert review Amber",
"North West GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH",
"NHS GMS",
"London South GLH"
],
"phenotypes": [
"Macrothrombocytopenia, 155100"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"KIAA0540"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:31928",
"gene_name": "neurobeachin like 2",
"omim_gene": [
"614169"
],
"alias_name": null,
"gene_symbol": "NBEAL2",
"hgnc_symbol": "NBEAL2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:47021173-47051193",
"ensembl_id": "ENSG00000160796"
}
},
"GRch38": {
"90": {
"location": "3:46979683-47009703",
"ensembl_id": "ENSG00000160796"
}
}
},
"hgnc_date_symbol_changed": "2005-03-04"
},
"entity_type": "gene",
"entity_name": "NBEAL2",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"20709904"
],
"evidence": [
"Expert Review Amber",
"Expert review Amber",
"North West GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH",
"NHS GMS",
"London South GLH"
],
"phenotypes": [
"Gray platelet syndrome, 139090"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"ATV",
"AT-V2",
"AT-V1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:7652",
"gene_name": "nibrin",
"omim_gene": [
"602667"
],
"alias_name": null,
"gene_symbol": "NBN",
"hgnc_symbol": "NBN",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "8:90945564-91015456",
"ensembl_id": "ENSG00000104320"
}
},
"GRch38": {
"90": {
"location": "8:89933336-90003228",
"ensembl_id": "ENSG00000104320"
}
}
},
"hgnc_date_symbol_changed": "2005-06-02"
},
"entity_type": "gene",
"entity_name": "NBN",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"15338273",
"11325820"
],
"evidence": [
"Expert Review Amber",
"Yorkshire and North East GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Aplastic anemia, 609135",
"251260 Nijmegen breakage syndrome",
"Leukemia, acute lymphoblastic, 613065",
"Nijmegen breakage syndrome, 251260"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"NOP10P",
"MGC70651"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:14378",
"gene_name": "NOP10 ribonucleoprotein",
"omim_gene": [
"606471"
],
"alias_name": [
"homolog of yeast Nop10p"
],
"gene_symbol": "NOP10",
"hgnc_symbol": "NOP10",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "15:34633917-34635378",
"ensembl_id": "ENSG00000182117"
}
},
"GRch38": {
"90": {
"location": "15:34341713-34343177",
"ensembl_id": "ENSG00000182117"
}
}
},
"hgnc_date_symbol_changed": "2008-10-13"
},
"entity_type": "gene",
"entity_name": "NOP10",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"17507419"
],
"evidence": [
"Expert Review Amber",
"North West GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Dyskeratosis congenita, autosomal recessive 1, 224230"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"B23",
"NPM"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:7910",
"gene_name": "nucleophosmin 1",
"omim_gene": [
"164040"
],
"alias_name": [
"nucleolar phosphoprotein B23",
"numatrin",
"nucleophosmin/nucleoplasmin family, member 1"
],
"gene_symbol": "NPM1",
"hgnc_symbol": "NPM1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "5:170814120-170838141",
"ensembl_id": "ENSG00000181163"
}
},
"GRch38": {
"90": {
"location": "5:171387116-171411137",
"ensembl_id": "ENSG00000181163"
}
}
},
"hgnc_date_symbol_changed": "1993-08-24"
},
"entity_type": "gene",
"entity_name": "NPM1",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"31570891"
],
"evidence": [
"Expert Review Amber",
"Expert list"
],
"phenotypes": [
"radial ray defects",
"short stature",
"nail dsytrophy",
"bone marrow failure"
],
"mode_of_inheritance": "Unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"EN-7"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9802",
"gene_name": "Rac family small GTPase 2",
"omim_gene": [
"602049"
],
"alias_name": null,
"gene_symbol": "RAC2",
"hgnc_symbol": "RAC2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "22:37621301-37640488",
"ensembl_id": "ENSG00000128340"
}
},
"GRch38": {
"90": {
"location": "22:37225261-37244448",
"ensembl_id": "ENSG00000128340"
}
}
},
"hgnc_date_symbol_changed": "1993-11-05"
},
"entity_type": "gene",
"entity_name": "RAC2",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"NHS GMS",
"Expert Review Amber",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Neutrophil immunodeficiency syndrome, 608203"
],
"mode_of_inheritance": "",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"K-REV",
"RAL1B",
"DKFZp586H0723"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9857",
"gene_name": "RAP1B, member of RAS oncogene family",
"omim_gene": [
"179530"
],
"alias_name": null,
"gene_symbol": "RAP1B",
"hgnc_symbol": "RAP1B",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:69004619-69054372",
"ensembl_id": "ENSG00000127314"
}
},
"GRch38": {
"90": {
"location": "12:68610839-68671901",
"ensembl_id": "ENSG00000127314"
}
}
},
"hgnc_date_symbol_changed": "1989-06-30"
},
"entity_type": "gene",
"entity_name": "RAP1B",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"26280580",
"32627184",
"35451551"
],
"evidence": [
"Expert Review Amber",
"Literature"
],
"phenotypes": [
"Syndromic intellectual disability",
"cytopenia"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [
"Q4_23_promote_green",
"Q4_23_NHS_review"
],
"transcript": []
},
{
"gene_data": {
"alias": [
"L18"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10310",
"gene_name": "ribosomal protein L18",
"omim_gene": [
"604179"
],
"alias_name": [
"60S ribosomal protein L18"
],
"gene_symbol": "RPL18",
"hgnc_symbol": "RPL18",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:49118585-49122793",
"ensembl_id": "ENSG00000063177"
}
},
"GRch38": {
"90": {
"location": "19:48615328-48619536",
"ensembl_id": "ENSG00000063177"
}
}
},
"hgnc_date_symbol_changed": "1994-01-04"
},
"entity_type": "gene",
"entity_name": "RPL18",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"28280134"
],
"evidence": [
"NHS GMS",
"Expert Review Amber",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Diamond-Blackfan anaemia"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"L27"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10328",
"gene_name": "ribosomal protein L27",
"omim_gene": [
"607526"
],
"alias_name": [
"60S ribosomal protein L27"
],
"gene_symbol": "RPL27",
"hgnc_symbol": "RPL27",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:41150290-41154976",
"ensembl_id": "ENSG00000131469"
}
},
"GRch38": {
"90": {
"location": "17:42998273-43002959",
"ensembl_id": "ENSG00000131469"
}
}
},
"hgnc_date_symbol_changed": "1994-05-16"
},
"entity_type": "gene",
"entity_name": "RPL27",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25424902"
],
"evidence": [
"Expert Review Amber",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Diamond-Blackfan anemia",
"?Diamond-Blackfan anemia 16, 617408"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"L31"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10334",
"gene_name": "ribosomal protein L31",
"omim_gene": [
"617415"
],
"alias_name": null,
"gene_symbol": "RPL31",
"hgnc_symbol": "RPL31",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:101618177-101640494",
"ensembl_id": "ENSG00000071082"
}
},
"GRch38": {
"90": {
"location": "2:101001715-101024032",
"ensembl_id": "ENSG00000071082"
}
}
},
"hgnc_date_symbol_changed": "1990-06-11"
},
"entity_type": "gene",
"entity_name": "RPL31",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25424902",
"25042156"
],
"evidence": [
"Expert Review Amber",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Diamond-Blackfan anaemia"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"L9"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10369",
"gene_name": "ribosomal protein L9",
"omim_gene": [
"603686"
],
"alias_name": null,
"gene_symbol": "RPL9",
"hgnc_symbol": "RPL9",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:39455744-39460568",
"ensembl_id": "ENSG00000163682"
}
},
"GRch38": {
"90": {
"location": "4:39454124-39458948",
"ensembl_id": "ENSG00000163682"
}
}
},
"hgnc_date_symbol_changed": "1993-12-07"
},
"entity_type": "gene",
"entity_name": "RPL9",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"23718193",
"20116044",
"29114930"
],
"evidence": [
"Expert Review Amber",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Diamond-Blackfan anemia"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"S20"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10405",
"gene_name": "ribosomal protein S20",
"omim_gene": [
"603682"
],
"alias_name": null,
"gene_symbol": "RPS20",
"hgnc_symbol": "RPS20",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "8:56979854-56987069",
"ensembl_id": "ENSG00000008988"
}
},
"GRch38": {
"90": {
"location": "8:56067295-56074581",
"ensembl_id": "ENSG00000008988"
}
}
},
"hgnc_date_symbol_changed": "1998-08-18"
},
"entity_type": "gene",
"entity_name": "RPS20",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"32790018"
],
"evidence": [
"Expert Review Amber",
"Literature"
],
"phenotypes": [
"Diamond Blackfan anaemia"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"S28"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10418",
"gene_name": "ribosomal protein S28",
"omim_gene": [
"603685"
],
"alias_name": [
"40S ribosomal protein S28"
],
"gene_symbol": "RPS28",
"hgnc_symbol": "RPS28",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:8386042-8388224",
"ensembl_id": "ENSG00000233927"
}
},
"GRch38": {
"90": {
"location": "19:8321158-8323340",
"ensembl_id": "ENSG00000233927"
}
}
},
"hgnc_date_symbol_changed": "1993-12-07"
},
"entity_type": "gene",
"entity_name": "RPS28",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"24942156",
"20301769"
],
"evidence": [
"NHS GMS",
"Expert Review Amber",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"R-Ras"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10447",
"gene_name": "RAS related",
"omim_gene": [
"165090"
],
"alias_name": [
"Oncogene RRAS"
],
"gene_symbol": "RRAS",
"hgnc_symbol": "RRAS",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:50138549-50143458",
"ensembl_id": "ENSG00000126458"
}
},
"GRch38": {
"90": {
"location": "19:49635292-49640201",
"ensembl_id": "ENSG00000126458"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "RRAS",
"confidence_level": "2",
"penetrance": "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",
"publications": [
"24705357",
"32815881",
"34935735"
],
"evidence": [
"Expert Review Amber",
"Literature"
],
"phenotypes": [
"RRAS-related atypical Noonan syndrome"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [
"Q2_24_promote_green"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"PEBP2A2",
"AMLCR1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10471",
"gene_name": "runt related transcription factor 1",
"omim_gene": [
"151385"
],
"alias_name": [
"aml1 oncogene"
],
"gene_symbol": "RUNX1",
"hgnc_symbol": "RUNX1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "21:36160098-37376965",
"ensembl_id": "ENSG00000159216"
}
},
"GRch38": {
"90": {
"location": "21:34787801-36004667",
"ensembl_id": "ENSG00000159216"
}
}
},
"hgnc_date_symbol_changed": "1991-08-20"
},
"entity_type": "gene",
"entity_name": "RUNX1",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"19357396",
"9746808"
],
"evidence": [
"Expert Review Amber",
"Expert review Amber",
"North West GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH",
"NHS GMS",
"London South GLH"
],
"phenotypes": [
"Platelet disorder, familial, with associated myeloid malignancy, 601399"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:18276",
"gene_name": "Sec61 translocon alpha 1 subunit",
"omim_gene": [
"609213"
],
"alias_name": null,
"gene_symbol": "SEC61A1",
"hgnc_symbol": "SEC61A1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:127770484-127790526",
"ensembl_id": "ENSG00000058262"
}
},
"GRch38": {
"90": {
"location": "3:128051641-128071683",
"ensembl_id": "ENSG00000058262"
}
}
},
"hgnc_date_symbol_changed": "2003-10-13"
},
"entity_type": "gene",
"entity_name": "SEC61A1",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"27392076",
"32325141"
],
"evidence": [
"Expert Review Amber",
"Literature"
],
"phenotypes": [
"severe congenital neutropenia, MONDO:0018542",
"Tubulointerstitial kidney disease, autosomal dominant, 5, OMIM:617056"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:32689",
"gene_name": "schlafen family member 14",
"omim_gene": [
"614958"
],
"alias_name": null,
"gene_symbol": "SLFN14",
"hgnc_symbol": "SLFN14",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:33875144-33885117",
"ensembl_id": "ENSG00000236320"
}
},
"GRch38": {
"90": {
"location": "17:35548125-35558098",
"ensembl_id": "ENSG00000236320"
}
}
},
"hgnc_date_symbol_changed": "2006-04-05"
},
"entity_type": "gene",
"entity_name": "SLFN14",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Amber",
"Expert review Amber",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Bleeding disorder, platelet-type, 20, 616913"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11300",
"gene_name": "signal recognition particle 19",
"omim_gene": [
"182175"
],
"alias_name": null,
"gene_symbol": "SRP19",
"hgnc_symbol": "SRP19",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "5:112196919-112205485",
"ensembl_id": "ENSG00000153037"
}
},
"GRch38": {
"90": {
"location": "5:112861222-112869788",
"ensembl_id": "ENSG00000153037"
}
}
},
"hgnc_date_symbol_changed": "1991-12-05"
},
"entity_type": "gene",
"entity_name": "SRP19",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"36223592"
],
"evidence": [
"Expert Review Amber",
"Literature"
],
"phenotypes": [
"severe congenital neutropenia, MONDO:0018542"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11303",
"gene_name": "signal recognition particle 72",
"omim_gene": [
"602122"
],
"alias_name": null,
"gene_symbol": "SRP72",
"hgnc_symbol": "SRP72",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:57333081-57369839",
"ensembl_id": "ENSG00000174780"
}
},
"GRch38": {
"90": {
"location": "4:56466915-56503680",
"ensembl_id": "ENSG00000174780"
}
}
},
"hgnc_date_symbol_changed": "1991-12-05"
},
"entity_type": "gene",
"entity_name": "SRP72",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"22541560",
"29146883"
],
"evidence": [
"Expert Review Amber",
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia",
"Bone marrow failure, familial, 614675",
"Familial MDS (Myelodysplastic syndromes)",
"Bone Marrow Failure, Familial",
"614675 Bone marrow failure syndrome 1",
"Familial Bone Marrow Failure"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"SRP-alpha",
"Sralpha",
"SR-alpha"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11307",
"gene_name": "SRP receptor alpha subunit",
"omim_gene": [
"182180"
],
"alias_name": null,
"gene_symbol": "SRPRA",
"hgnc_symbol": "SRPRA",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:126132814-126139039",
"ensembl_id": "ENSG00000182934"
}
},
"GRch38": {
"90": {
"location": "11:126262919-126269144",
"ensembl_id": "ENSG00000182934"
}
}
},
"hgnc_date_symbol_changed": "2015-11-20"
},
"entity_type": "gene",
"entity_name": "SRPRA",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"36223592"
],
"evidence": [
"Expert Review Amber",
"Literature"
],
"phenotypes": [
"severe congenital neutropenia, MONDO:0018542"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"GOK",
"D11S4896E"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11386",
"gene_name": "stromal interaction molecule 1",
"omim_gene": [
"605921"
],
"alias_name": null,
"gene_symbol": "STIM1",
"hgnc_symbol": "STIM1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:3875757-4114439",
"ensembl_id": "ENSG00000167323"
}
},
"GRch38": {
"90": {
"location": "11:3854527-4093210",
"ensembl_id": "ENSG00000167323"
}
}
},
"hgnc_date_symbol_changed": "1997-02-05"
},
"entity_type": "gene",
"entity_name": "STIM1",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25577287"
],
"evidence": [
"Expert Review Amber",
"Expert review Amber",
"North West GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH",
"NHS GMS",
"London South GLH"
],
"phenotypes": [
"Stormorken syndrome, 185070"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"TIRC7",
"OC-116",
"OC116",
"ATP6N1C",
"Atp6i",
"a3",
"ATP6V0A3"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11647",
"gene_name": "T-cell immune regulator 1, ATPase H+ transporting V0 subunit a3",
"omim_gene": [
"604592"
],
"alias_name": [
"T-cell immune response cDNA 7"
],
"gene_symbol": "TCIRG1",
"hgnc_symbol": "TCIRG1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:67806483-67818362",
"ensembl_id": "ENSG00000110719"
}
},
"GRch38": {
"90": {
"location": "11:68039016-68050895",
"ensembl_id": "ENSG00000110719"
}
}
},
"hgnc_date_symbol_changed": "1999-02-15"
},
"entity_type": "gene",
"entity_name": "TCIRG1",
"confidence_level": "2",
"penetrance": "unknown",
"mode_of_pathogenicity": null,
"publications": [
"24753205",
"35573728"
],
"evidence": [
"Expert Review Amber",
"Literature"
],
"phenotypes": [
"severe congenital neutropenia, MONDO:0018542"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [
"watchlist"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"D22S676",
"D22S750",
"TC2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11653",
"gene_name": "transcobalamin 2",
"omim_gene": [
"613441"
],
"alias_name": [
"macrocytic anemia"
],
"gene_symbol": "TCN2",
"hgnc_symbol": "TCN2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "22:31002825-31023265",
"ensembl_id": "ENSG00000185339"
}
},
"GRch38": {
"90": {
"location": "22:30606838-30627278",
"ensembl_id": "ENSG00000185339"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "TCN2",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Amber",
"Expert review Amber",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Transcobalamin II deficiency, 275350"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"DT1P1A10",
"RP1-112K5.2",
"WGG1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:25455",
"gene_name": "TSR2, ribosome maturation factor",
"omim_gene": [
"300945"
],
"alias_name": [
"WGG motif containing 1"
],
"gene_symbol": "TSR2",
"hgnc_symbol": "TSR2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:54466834-54471920",
"ensembl_id": "ENSG00000158526"
}
},
"GRch38": {
"90": {
"location": "X:54440401-54445487",
"ensembl_id": "ENSG00000158526"
}
}
},
"hgnc_date_symbol_changed": "2006-07-03"
},
"entity_type": "gene",
"entity_name": "TSR2",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"24942156",
"20301769"
],
"evidence": [
"NHS GMS",
"Expert Review Amber",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946"
],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:12410",
"gene_name": "tubulin alpha 8",
"omim_gene": [
"605742"
],
"alias_name": null,
"gene_symbol": "TUBA8",
"hgnc_symbol": "TUBA8",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "22:18593097-18629321",
"ensembl_id": "ENSG00000183785"
}
},
"GRch38": {
"90": {
"location": "22:18110331-18146554",
"ensembl_id": "ENSG00000183785"
}
}
},
"hgnc_date_symbol_changed": "1999-10-29"
},
"entity_type": "gene",
"entity_name": "TUBA8",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"34704371"
],
"evidence": [
"Expert Review Amber",
"Literature"
],
"phenotypes": [
"Macrothrombocytopenia, isolated, 2, autosomal dominant, OMIM:619840"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"dJ543J19.4"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:16257",
"gene_name": "tubulin beta 1 class VI",
"omim_gene": [
"612901"
],
"alias_name": [
"class VI beta-tubulin"
],
"gene_symbol": "TUBB1",
"hgnc_symbol": "TUBB1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "20:57594309-57601709",
"ensembl_id": "ENSG00000101162"
}
},
"GRch38": {
"90": {
"location": "20:59019254-59026654",
"ensembl_id": "ENSG00000101162"
}
}
},
"hgnc_date_symbol_changed": "2001-07-17"
},
"entity_type": "gene",
"entity_name": "TUBB1",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"18849486"
],
"evidence": [
"Expert Review Amber",
"Expert review Amber",
"North West GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH",
"NHS GMS",
"London South GLH"
],
"phenotypes": [
"Macrothrombocytopenia, 613112"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:132",
"gene_name": "actin beta",
"omim_gene": [
"102630"
],
"alias_name": null,
"gene_symbol": "ACTB",
"hgnc_symbol": "ACTB",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:5566782-5603415",
"ensembl_id": "ENSG00000075624"
}
},
"GRch38": {
"90": {
"location": "7:5527151-5563784",
"ensembl_id": "ENSG00000075624"
}
}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
"entity_type": "gene",
"entity_name": "ACTB",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"Expert review Red",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Baraitser-Winter syndrome 1 with macrothrombocytopenia",
"Baraitser-Winter syndrome 1, 243310"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"ARC41",
"p40-ARC",
"p41-ARC"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:704",
"gene_name": "actin related protein 2/3 complex subunit 1B",
"omim_gene": [
"604223"
],
"alias_name": [
"ARP2/3 protein complex subunit p41",
"actin related protein 2/3 complex, subunit 1A (41 kD)"
],
"gene_symbol": "ARPC1B",
"hgnc_symbol": "ARPC1B",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:98971872-98992424",
"ensembl_id": "ENSG00000130429"
}
},
"GRch38": {
"90": {
"location": "7:99374249-99394801",
"ensembl_id": "ENSG00000130429"
}
}
},
"hgnc_date_symbol_changed": "1999-08-06"
},
"entity_type": "gene",
"entity_name": "ARPC1B",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"Expert review Red",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"p50",
"Bp50"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11919",
"gene_name": "CD40 molecule",
"omim_gene": [
"109535"
],
"alias_name": null,
"gene_symbol": "CD40",
"hgnc_symbol": "CD40",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "20:44746911-44758502",
"ensembl_id": "ENSG00000101017"
}
},
"GRch38": {
"90": {
"location": "20:46118272-46129863",
"ensembl_id": "ENSG00000101017"
}
}
},
"hgnc_date_symbol_changed": "2005-01-14"
},
"entity_type": "gene",
"entity_name": "CD40",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"Expert review Red",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Immunodeficiency with hyper-IgM, type 3, 606843"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CD40L",
"TRAP",
"gp39",
"hCD40L",
"CD154"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11935",
"gene_name": "CD40 ligand",
"omim_gene": [
"300386"
],
"alias_name": [
"CD40 antigen ligand",
"tumor necrosis factor (ligand) superfamily member 5",
"T-B cell-activating molecule",
"TNF-related activation protein",
"hyper-IgM syndrome"
],
"gene_symbol": "CD40LG",
"hgnc_symbol": "CD40LG",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:135730352-135742549",
"ensembl_id": "ENSG00000102245"
}
},
"GRch38": {
"90": {
"location": "X:136648193-136660390",
"ensembl_id": "ENSG00000102245"
}
}
},
"hgnc_date_symbol_changed": "2005-01-14"
},
"entity_type": "gene",
"entity_name": "CD40LG",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"Expert review Red",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Immunodeficiency, X-linked, with hyper-IgM, 308230"
],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"G25K",
"CDC42Hs"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1736",
"gene_name": "cell division cycle 42",
"omim_gene": [
"116952"
],
"alias_name": [
"GTP binding protein, 25kDa"
],
"gene_symbol": "CDC42",
"hgnc_symbol": "CDC42",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:22379120-22419437",
"ensembl_id": "ENSG00000070831"
}
},
"GRch38": {
"90": {
"location": "1:22052627-22092946",
"ensembl_id": "ENSG00000070831"
}
}
},
"hgnc_date_symbol_changed": "1991-06-06"
},
"entity_type": "gene",
"entity_name": "CDC42",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"Expert review Red",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Takenouchi-Kosaki syndrome, 616737"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"hDIA1",
"LFHL1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2876",
"gene_name": "diaphanous related formin 1",
"omim_gene": [
"602121"
],
"alias_name": null,
"gene_symbol": "DIAPH1",
"hgnc_symbol": "DIAPH1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "5:140894583-140998622",
"ensembl_id": "ENSG00000131504"
}
},
"GRch38": {
"90": {
"location": "5:141515016-141619055",
"ensembl_id": "ENSG00000131504"
}
}
},
"hgnc_date_symbol_changed": "1998-03-17"
},
"entity_type": "gene",
"entity_name": "DIAPH1",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"Expert review Red",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Macrothrombocytopenia and hearing loss",
"Deafness, autosomal dominant 1, 124900"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CD16",
"CD16b"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3620",
"gene_name": "Fc fragment of IgG receptor IIIb",
"omim_gene": [
"610665"
],
"alias_name": [
"Fc gamma receptor IIIb"
],
"gene_symbol": "FCGR3B",
"hgnc_symbol": "FCGR3B",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:161592986-161601753",
"ensembl_id": "ENSG00000162747"
}
},
"GRch38": {
"90": {
"location": "1:161623196-161631963",
"ensembl_id": "ENSG00000162747"
}
}
},
"hgnc_date_symbol_changed": "1991-08-21"
},
"entity_type": "gene",
"entity_name": "FCGR3B",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Neutropenia,alloimmuneneonatal"
],
"mode_of_inheritance": "Other - please specify in evaluation comments",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"ABP-280"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3754",
"gene_name": "filamin A",
"omim_gene": [
"300017"
],
"alias_name": [
"actin binding protein 280",
"alpha filamin"
],
"gene_symbol": "FLNA",
"hgnc_symbol": "FLNA",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:153576892-153603006",
"ensembl_id": "ENSG00000196924"
}
},
"GRch38": {
"90": {
"location": "X:154348524-154374638",
"ensembl_id": "ENSG00000196924"
}
}
},
"hgnc_date_symbol_changed": "1993-03-18"
},
"entity_type": "gene",
"entity_name": "FLNA",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"Expert review Red",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Heterotopia, periventricular, 1, OMIM:300049",
"Macrothrombocytopenia"
],
"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": [
"KIAA0186",
"PSF1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:28980",
"gene_name": "GINS complex subunit 1",
"omim_gene": [
"610608"
],
"alias_name": null,
"gene_symbol": "GINS1",
"hgnc_symbol": "GINS1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "20:25388363-25433264",
"ensembl_id": "ENSG00000101003"
}
},
"GRch38": {
"90": {
"location": "20:25407727-25452628",
"ensembl_id": "ENSG00000101003"
}
}
},
"hgnc_date_symbol_changed": "2006-05-04"
},
"entity_type": "gene",
"entity_name": "GINS1",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"Expert review Red",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Immunodeficiency 55, 617827"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"Uae1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:23657",
"gene_name": "glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase",
"omim_gene": [
"603824"
],
"alias_name": [
"bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase"
],
"gene_symbol": "GNE",
"hgnc_symbol": "GNE",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "9:36214438-36277053",
"ensembl_id": "ENSG00000159921"
}
},
"GRch38": {
"90": {
"location": "9:36214441-36277056",
"ensembl_id": "ENSG00000159921"
}
}
},
"hgnc_date_symbol_changed": "2003-11-28"
},
"entity_type": "gene",
"entity_name": "GNE",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"Expert review Red",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Nonaka myopathy, 605820"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:5101",
"gene_name": "homeobox A11",
"omim_gene": [
"142958"
],
"alias_name": null,
"gene_symbol": "HOXA11",
"hgnc_symbol": "HOXA11",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:27221129-27224842",
"ensembl_id": "ENSG00000005073"
}
},
"GRch38": {
"90": {
"location": "7:27181510-27185223",
"ensembl_id": "ENSG00000005073"
}
}
},
"hgnc_date_symbol_changed": "1990-07-05"
},
"entity_type": "gene",
"entity_name": "HOXA11",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"20091385",
"11101832"
],
"evidence": [
"Expert Review Red",
"Expert review Red",
"North West GLH",
"Wessex and West Midlands GLH",
"Yorkshire and North East GLH",
"NHS GMS",
"London South GLH"
],
"phenotypes": [
"Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"OMI",
"PARK13"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:14348",
"gene_name": "HtrA serine peptidase 2",
"omim_gene": [
"606441"
],
"alias_name": null,
"gene_symbol": "HTRA2",
"hgnc_symbol": "HTRA2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:74756504-74760472",
"ensembl_id": "ENSG00000115317"
}
},
"GRch38": {
"90": {
"location": "2:74529377-74533348",
"ensembl_id": "ENSG00000115317"
}
}
},
"hgnc_date_symbol_changed": "2005-08-19"
},
"entity_type": "gene",
"entity_name": "HTRA2",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"Expert review Red",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"3-methylglutaconic aciduria, type VIII, 617248"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CD41B",
"CD41",
"PPP1R93"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6138",
"gene_name": "integrin subunit alpha 2b",
"omim_gene": [
"607759"
],
"alias_name": [
"protein phosphatase 1, regulatory subunit 93",
"platelet glycoprotein IIb of IIb/IIIa complex"
],
"gene_symbol": "ITGA2B",
"hgnc_symbol": "ITGA2B",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:42449548-42466873",
"ensembl_id": "ENSG00000005961"
}
},
"GRch38": {
"90": {
"location": "17:44372180-44389505",
"ensembl_id": "ENSG00000005961"
}
}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
"entity_type": "gene",
"entity_name": "ITGA2B",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"Expert review Red",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Glanzmann thrombasthenia, 273800"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CD61",
"GPIIIa"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6156",
"gene_name": "integrin subunit beta 3",
"omim_gene": [
"173470"
],
"alias_name": [
"platelet glycoprotein IIIa",
"antigen CD61"
],
"gene_symbol": "ITGB3",
"hgnc_symbol": "ITGB3",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:45331212-45421658",
"ensembl_id": "ENSG00000259207"
}
},
"GRch38": {
"90": {
"location": "17:47253846-47311816",
"ensembl_id": "ENSG00000259207"
}
}
},
"hgnc_date_symbol_changed": "1988-06-09"
},
"entity_type": "gene",
"entity_name": "ITGB3",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"Expert review Red",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Glanzmann thrombasthenia, 273800"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"DHSR",
"SDR35C1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4021",
"gene_name": "3-ketodihydrosphingosine reductase",
"omim_gene": [
"136440"
],
"alias_name": [
"3-dehydrosphinganine reductase",
"short chain dehydrogenase/reductase family 35C, member 1"
],
"gene_symbol": "KDSR",
"hgnc_symbol": "KDSR",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "18:60994959-61034743",
"ensembl_id": "ENSG00000119537"
}
},
"GRch38": {
"90": {
"location": "18:63327726-63367510",
"ensembl_id": "ENSG00000119537"
}
}
},
"hgnc_date_symbol_changed": "2008-02-20"
},
"entity_type": "gene",
"entity_name": "KDSR",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"Expert review Red",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Erythrokeratodermia variabilis et progressiva 4, 617526"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"MAPBPIP",
"MAPKSP1AP",
"p14",
"ENDAP",
"Ragulator2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:29796",
"gene_name": "late endosomal/lysosomal adaptor, MAPK and MTOR activator 2",
"omim_gene": [
"610389"
],
"alias_name": [
"mitogen activated protein binding protein interacting protein",
"MAPKSP1 adaptor protein",
"endosomal adaptor protein"
],
"gene_symbol": "LAMTOR2",
"hgnc_symbol": "LAMTOR2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:156024543-156028301",
"ensembl_id": "ENSG00000116586"
}
},
"GRch38": {
"90": {
"location": "1:156054752-156058510",
"ensembl_id": "ENSG00000116586"
}
}
},
"hgnc_date_symbol_changed": "2011-02-15"
},
"entity_type": "gene",
"entity_name": "LAMTOR2",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"Expert review Red",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Immunodeficiency due to defect in MAPBP-interacting protein, 610798"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6601",
"gene_name": "DNA ligase 4",
"omim_gene": [
"601837"
],
"alias_name": [
"polydeoxyribonucleotide synthase [ATP] 4",
"polynucleotide ligase",
"sealase",
"DNA repair enzyme",
"DNA joinase"
],
"gene_symbol": "LIG4",
"hgnc_symbol": "LIG4",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "13:108859787-108870716",
"ensembl_id": "ENSG00000174405"
}
},
"GRch38": {
"90": {
"location": "13:108207439-108218368",
"ensembl_id": "ENSG00000174405"
}
}
},
"hgnc_date_symbol_changed": "1995-08-10"
},
"entity_type": "gene",
"entity_name": "LIG4",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"20133615",
"16088910",
"11779494"
],
"evidence": [
"Expert Review Red",
"NHS GMS",
"London South GLH"
],
"phenotypes": [
"LIG4 syndrome, OMIM:606593"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CHS"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1968",
"gene_name": "lysosomal trafficking regulator",
"omim_gene": [
"606897"
],
"alias_name": null,
"gene_symbol": "LYST",
"hgnc_symbol": "LYST",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:235824341-236046940",
"ensembl_id": "ENSG00000143669"
}
},
"GRch38": {
"90": {
"location": "1:235661041-235883640",
"ensembl_id": "ENSG00000143669"
}
}
},
"hgnc_date_symbol_changed": "2004-12-10"
},
"entity_type": "gene",
"entity_name": "LYST",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"Expert review Red",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Chediak-Higashi syndrome, 214500"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"G6b",
"NG31",
"G6b-B"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:13937",
"gene_name": "megakaryocyte and platelet inhibitory receptor G6b",
"omim_gene": [
"606520"
],
"alias_name": null,
"gene_symbol": "MPIG6B",
"hgnc_symbol": "MPIG6B",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:31686371-31694491",
"ensembl_id": "ENSG00000204420"
}
},
"GRch38": {
"90": {
"location": "6:31718594-31726714",
"ensembl_id": "ENSG00000204420"
}
}
},
"hgnc_date_symbol_changed": "2017-01-04"
},
"entity_type": "gene",
"entity_name": "MPIG6B",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"27743390"
],
"evidence": [
"Expert Review Red",
"Expert review Red",
"Yorkshire and North East GLH",
"North West GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"617441 Thrombocytopenia, anemia, and myelofibrosis",
"?Thrombocytopenia, anemia, and myelofibrosis1, 617441",
"?Thrombocytopenia, anemia, and myelofibrosis, 617441"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:7373",
"gene_name": "moesin",
"omim_gene": [
"309845"
],
"alias_name": null,
"gene_symbol": "MSN",
"hgnc_symbol": "MSN",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:64808257-64961791",
"ensembl_id": "ENSG00000147065"
}
},
"GRch38": {
"90": {
"location": "X:65588377-65741931",
"ensembl_id": "ENSG00000147065"
}
}
},
"hgnc_date_symbol_changed": "1993-02-05"
},
"entity_type": "gene",
"entity_name": "MSN",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"Expert review Red",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Immunodeficiency 50, 300988"
],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:7432",
"gene_name": "methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1",
"omim_gene": [
"172460"
],
"alias_name": null,
"gene_symbol": "MTHFD1",
"hgnc_symbol": "MTHFD1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "14:64854749-64926722",
"ensembl_id": "ENSG00000100714"
}
},
"GRch38": {
"90": {
"location": "14:64388031-64463457",
"ensembl_id": "ENSG00000100714"
}
}
},
"hgnc_date_symbol_changed": "1999-07-23"
},
"entity_type": "gene",
"entity_name": "MTHFD1",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"Expert review Red",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"RPB3"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9189",
"gene_name": "RNA polymerase II subunit C",
"omim_gene": [
"180663"
],
"alias_name": [
"RNA polymerase II subunit 3"
],
"gene_symbol": "POLR2C",
"hgnc_symbol": "POLR2C",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "16:57496299-57505922",
"ensembl_id": "ENSG00000102978"
}
},
"GRch38": {
"90": {
"location": "16:57462387-57472010",
"ensembl_id": "ENSG00000102978"
}
}
},
"hgnc_date_symbol_changed": "1993-12-07"
},
"entity_type": "gene",
"entity_name": "POLR2C",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"34794894",
"29367954"
],
"evidence": [
"Expert Review Red",
"Literature"
],
"phenotypes": [
"thrombocytopenia, MONDO:0002049"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": []
},
{
"gene_data": {
"alias": [
"RING10",
"D6S216E",
"PSMB5i",
"beta5i"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9545",
"gene_name": "proteasome subunit beta 8",
"omim_gene": [
"177046"
],
"alias_name": null,
"gene_symbol": "PSMB8",
"hgnc_symbol": "PSMB8",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:32808494-32812480",
"ensembl_id": "ENSG00000204264"
}
},
"GRch38": {
"90": {
"location": "6:32840717-32844703",
"ensembl_id": "ENSG00000204264"
}
}
},
"hgnc_date_symbol_changed": "1992-06-25"
},
"entity_type": "gene",
"entity_name": "PSMB8",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"Expert review Red",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"BPTP3",
"SH-PTP2",
"SHP-2",
"PTP2C",
"SHP2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9644",
"gene_name": "protein tyrosine phosphatase, non-receptor type 11",
"omim_gene": [
"176876"
],
"alias_name": null,
"gene_symbol": "PTPN11",
"hgnc_symbol": "PTPN11",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:112856155-112947717",
"ensembl_id": "ENSG00000179295"
}
},
"GRch38": {
"90": {
"location": "12:112418351-112509913",
"ensembl_id": "ENSG00000179295"
}
}
},
"hgnc_date_symbol_changed": "1993-03-03"
},
"entity_type": "gene",
"entity_name": "PTPN11",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"Expert review Red",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Noonan syndrome 1, 163950"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"ZNRP",
"BOV-1A",
"BOV-1B",
"BOV-1C",
"RBM8B",
"Y14"
],
"biotype": null,
"hgnc_id": "HGNC:9905",
"gene_name": "RNA binding motif protein 8A",
"omim_gene": [
"605313"
],
"alias_name": null,
"gene_symbol": "RBM8A",
"hgnc_symbol": "RBM8A",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:145507598-145513536",
"ensembl_id": "ENSG00000131795"
}
},
"GRch38": {
"90": {
"location": "1:145917714-145927678",
"ensembl_id": "ENSG00000265241"
}
}
},
"hgnc_date_symbol_changed": "1999-05-05"
},
"entity_type": "gene",
"entity_name": "RBM8A",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"22366785",
"24220582",
"28128450",
"17236129"
],
"evidence": [
"Expert Review Red",
"Expert review Red",
"Wessex and West Midlands GLH",
"North West GLH",
"Yorkshire and North East GLH",
"NHS GMS",
"London South GLH"
],
"phenotypes": [
"616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related",
"615190 DC type 4 and 5",
"274000 Thrombocytopenia-absent radius syndrome"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"RNU4ATAC1"
],
"biotype": "snRNA",
"hgnc_id": "HGNC:34016",
"gene_name": "RNA, U4atac small nuclear (U12-dependent splicing)",
"omim_gene": [
"601428"
],
"alias_name": null,
"gene_symbol": "RNU4ATAC",
"hgnc_symbol": "RNU4ATAC",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:122288457-122288583",
"ensembl_id": "ENSG00000264229"
}
},
"GRch38": {
"90": {
"location": "2:121530881-121531007",
"ensembl_id": "ENSG00000264229"
}
}
},
"hgnc_date_symbol_changed": "2008-03-12"
},
"entity_type": "gene",
"entity_name": "RNU4ATAC",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"Expert review Red",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Roifman syndrome, OMIM:616651"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"L26"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10327",
"gene_name": "ribosomal protein L26",
"omim_gene": [
"603704"
],
"alias_name": null,
"gene_symbol": "RPL26",
"hgnc_symbol": "RPL26",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:8280838-8286531",
"ensembl_id": "ENSG00000161970"
}
},
"GRch38": {
"90": {
"location": "17:8377520-8383213",
"ensembl_id": "ENSG00000161970"
}
}
},
"hgnc_date_symbol_changed": "1993-06-15"
},
"entity_type": "gene",
"entity_name": "RPL26",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"?Diamond-Blackfan anemia 11, 614900"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"MPS-1",
"MPS1",
"S27"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10416",
"gene_name": "ribosomal protein S27",
"omim_gene": [
"603702"
],
"alias_name": [
"metallopanstimulin 1"
],
"gene_symbol": "RPS27",
"hgnc_symbol": "RPS27",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:153963235-153964626",
"ensembl_id": "ENSG00000177954"
}
},
"GRch38": {
"90": {
"location": "1:153990759-153992150",
"ensembl_id": "ENSG00000177954"
}
}
},
"hgnc_date_symbol_changed": "1998-06-05"
},
"entity_type": "gene",
"entity_name": "RPS27",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"23718193",
"25424902"
],
"evidence": [
"Expert Review Red",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"?Diamond-Blackfan anemia 17, OMIM:617409"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"GSD1b",
"GSD1c",
"GSD1d"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4061",
"gene_name": "solute carrier family 37 member 4",
"omim_gene": [
"602671"
],
"alias_name": null,
"gene_symbol": "SLC37A4",
"hgnc_symbol": "SLC37A4",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:118894824-118901616",
"ensembl_id": "ENSG00000137700"
}
},
"GRch38": {
"90": {
"location": "11:119024114-119030906",
"ensembl_id": "ENSG00000137700"
}
}
},
"hgnc_date_symbol_changed": "2003-09-10"
},
"entity_type": "gene",
"entity_name": "SLC37A4",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"9428641",
"9675154"
],
"evidence": [
"Expert review Red",
"North West GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH",
"Expert Review Red",
"NHS GMS",
"London South GLH"
],
"phenotypes": [
"Glycogen storage disease Ib, OMIM:232220",
"Glycogen storage disease Ic, OMIM:232240"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"HHARP",
"HARP"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11102",
"gene_name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1",
"omim_gene": [
"606622"
],
"alias_name": [
"HepA-related protein",
"ATP-driven annealing helicase"
],
"gene_symbol": "SMARCAL1",
"hgnc_symbol": "SMARCAL1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:217277137-217347776",
"ensembl_id": "ENSG00000138375"
}
},
"GRch38": {
"90": {
"location": "2:216412414-216483053",
"ensembl_id": "ENSG00000138375"
}
}
},
"hgnc_date_symbol_changed": "2000-02-18"
},
"entity_type": "gene",
"entity_name": "SMARCAL1",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"17089404"
],
"evidence": [
"Expert review Red",
"North West GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH",
"Expert Review Red",
"NHS GMS",
"London South GLH"
],
"phenotypes": [
"Schimke immunoosseous dysplasia, OMIM:242900"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"MST1",
"KRS2",
"YSK3"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11408",
"gene_name": "serine/threonine kinase 4",
"omim_gene": [
"604965"
],
"alias_name": [
"mammalian sterile 20-like 1",
"yeast Ste20-like",
"kinase responsive to stress 2"
],
"gene_symbol": "STK4",
"hgnc_symbol": "STK4",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "20:43595115-43708600",
"ensembl_id": "ENSG00000101109"
}
},
"GRch38": {
"90": {
"location": "20:44966474-45079959",
"ensembl_id": "ENSG00000101109"
}
}
},
"hgnc_date_symbol_changed": "1997-10-09"
},
"entity_type": "gene",
"entity_name": "STK4",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"Expert review Red",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868"
],
"mode_of_inheritance": "Unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"p53",
"LFS1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11998",
"gene_name": "tumor protein p53",
"omim_gene": [
"191170"
],
"alias_name": [
"Li-Fraumeni syndrome"
],
"gene_symbol": "TP53",
"hgnc_symbol": "TP53",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:7565097-7590856",
"ensembl_id": "ENSG00000141510"
}
},
"GRch38": {
"90": {
"location": "17:7661779-7687550",
"ensembl_id": "ENSG00000141510"
}
}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
"entity_type": "gene",
"entity_name": "TP53",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"NHS GMS",
"Yorkshire and North East GLH"
],
"phenotypes": [
"618165 Bone marrow failure syndrome 5"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ30169",
"H2-ALPHA"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:12407",
"gene_name": "tubulin alpha 4a",
"omim_gene": [
"191110"
],
"alias_name": null,
"gene_symbol": "TUBA4A",
"hgnc_symbol": "TUBA4A",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:220114433-220142892",
"ensembl_id": "ENSG00000127824"
}
},
"GRch38": {
"90": {
"location": "2:219249711-219278170",
"ensembl_id": "ENSG00000127824"
}
}
},
"hgnc_date_symbol_changed": "2007-02-12"
},
"entity_type": "gene",
"entity_name": "TUBA4A",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"30760556"
],
"evidence": [
"Expert Review Red",
"Literature"
],
"phenotypes": [
"autosomal dominant macrothrombocytopenia, MONDO:0015372"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2183",
"gene_name": "vacuolar protein sorting 13 homolog B",
"omim_gene": [
"607817"
],
"alias_name": null,
"gene_symbol": "VPS13B",
"hgnc_symbol": "VPS13B",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "8:100025494-100889808",
"ensembl_id": "ENSG00000132549"
}
},
"GRch38": {
"90": {
"location": "8:99013266-99877580",
"ensembl_id": "ENSG00000132549"
}
}
},
"hgnc_date_symbol_changed": "2005-04-08"
},
"entity_type": "gene",
"entity_name": "VPS13B",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"Expert review Red",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Cohen syndrome, 216550"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:12726",
"gene_name": "von Willebrand factor",
"omim_gene": [
"613160"
],
"alias_name": null,
"gene_symbol": "VWF",
"hgnc_symbol": "VWF",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:6058040-6233936",
"ensembl_id": "ENSG00000110799"
}
},
"GRch38": {
"90": {
"location": "12:5948874-6124770",
"ensembl_id": "ENSG00000110799"
}
}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
"entity_type": "gene",
"entity_name": "VWF",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Expert Review Red",
"Expert review Red",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554",
"von Willibrand disease, type 3, 277480",
"von Willebrand disease, type 1, 193400"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
}
],
"strs": [],
"regions": []
}