HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"id": 545,
"hash_id": null,
"name": "Bleeding and platelet disorders",
"disease_group": "",
"disease_sub_group": "",
"status": "public",
"version": "3.10",
"version_created": "2024-04-24T16:33:46.214396Z",
"relevant_disorders": [
"R90"
],
"stats": {
"number_of_genes": 116,
"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": [
"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": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"30270055",
"24623560",
"27291889"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"210250 Sitosterolemia & Thrombocytopenia"
],
"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": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"24166850",
"27291889"
],
"evidence": [
"Expert Review Green",
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"210250 Sitosterolemia & Thrombocytopenia"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"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": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"30451859"
],
"evidence": [
"Expert Review Green",
"North West GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"thrombocytopenia, MONDO:0002049 (AD)"
],
"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": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25361813",
"23434115",
"25949529"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"615193 Bleeding disorder, platelet-type, 15"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"HHT2",
"ALK1",
"HHT"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:175",
"gene_name": "activin A receptor like type 1",
"omim_gene": [
"601284"
],
"alias_name": null,
"gene_symbol": "ACVRL1",
"hgnc_symbol": "ACVRL1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:52300692-52317145",
"ensembl_id": "ENSG00000139567"
}
},
"GRch38": {
"90": {
"location": "12:51906908-51923361",
"ensembl_id": "ENSG00000139567"
}
}
},
"hgnc_date_symbol_changed": "1994-12-12"
},
"entity_type": "gene",
"entity_name": "ACVRL1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"16752392",
"25970827",
"30251589"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"600376 Telangiectasia, hereditary hemorrhagic, type 2"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"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": [
"21467542",
"24030261",
"21211618"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"188000 Thrombocytopenia 2"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"DKFZp313M0720"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:25240",
"gene_name": "anoctamin 6",
"omim_gene": [
"608663"
],
"alias_name": null,
"gene_symbol": "ANO6",
"hgnc_symbol": "ANO6",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:45609770-45834187",
"ensembl_id": "ENSG00000177119"
}
},
"GRch38": {
"90": {
"location": "12:45215987-45440404",
"ensembl_id": "ENSG00000177119"
}
}
},
"hgnc_date_symbol_changed": "2008-08-28"
},
"entity_type": "gene",
"entity_name": "ANO6",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"21511967",
"21107324",
"27879994"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"262890 Scott syndrome"
],
"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": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"28585318",
"23403622",
"26684649"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"608233 Hermansky-Pudlak syndrome 2"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"ADTD"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:568",
"gene_name": "adaptor related protein complex 3 delta 1 subunit",
"omim_gene": [
"607246"
],
"alias_name": null,
"gene_symbol": "AP3D1",
"hgnc_symbol": "AP3D1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:2100988-2164464",
"ensembl_id": "ENSG00000065000"
}
},
"GRch38": {
"90": {
"location": "19:2100988-2164465",
"ensembl_id": "ENSG00000065000"
}
}
},
"hgnc_date_symbol_changed": "2000-09-01"
},
"entity_type": "gene",
"entity_name": "AP3D1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"28936583",
"26744459"
],
"evidence": [
"Expert Review Green",
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"617050 ?Hermansky-Pudlak syndrome 10"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"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": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"29127144",
"28368018"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"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": [
"BLOS3",
"HPS8"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:20914",
"gene_name": "biogenesis of lysosomal organelles complex 1 subunit 3",
"omim_gene": [
"609762"
],
"alias_name": [
"BLOC-1 subunit 3",
"Biogenesis of Lysosome-related Organelles complex-1 Subunit 3",
"Hermansky-Pudlak syndrome 8"
],
"gene_symbol": "BLOC1S3",
"hgnc_symbol": "BLOC1S3",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:45682003-45685059",
"ensembl_id": "ENSG00000189114"
}
},
"GRch38": {
"90": {
"location": "19:45178745-45181801",
"ensembl_id": "ENSG00000189114"
}
}
},
"hgnc_date_symbol_changed": "2004-05-24"
},
"entity_type": "gene",
"entity_name": "BLOC1S3",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"16385460",
"22709368",
"32687635"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Hermansky-Pudlak syndrome 8, 614077"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"HPS9"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8549",
"gene_name": "biogenesis of lysosomal organelles complex 1 subunit 6",
"omim_gene": [
"604310"
],
"alias_name": null,
"gene_symbol": "BLOC1S6",
"hgnc_symbol": "BLOC1S6",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "15:45879321-45908197",
"ensembl_id": "ENSG00000104164"
}
},
"GRch38": {
"90": {
"location": "15:45587123-45615999",
"ensembl_id": "ENSG00000104164"
}
}
},
"hgnc_date_symbol_changed": "2012-08-01"
},
"entity_type": "gene",
"entity_name": "BLOC1S6",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"22461475",
"29054114"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"614171 ?Hermansky-pudlak syndrome 9"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"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": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"26708094",
"26386261",
"29394990"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"616737 Takenouchi-Kosaki syndrome"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"HD4ST",
"D4ST-1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:24464",
"gene_name": "carbohydrate sulfotransferase 14",
"omim_gene": [
"608429"
],
"alias_name": null,
"gene_symbol": "CHST14",
"hgnc_symbol": "CHST14",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "15:40763160-40765353",
"ensembl_id": "ENSG00000169105"
}
},
"GRch38": {
"90": {
"location": "15:40470998-40474571",
"ensembl_id": "ENSG00000169105"
}
}
},
"hgnc_date_symbol_changed": "2007-03-27"
},
"entity_type": "gene",
"entity_name": "CHST14",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"20533528",
"26373698",
"25703627"
],
"evidence": [
"Expert Review Green",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Ehlers-Danlos syndrome, musculocontractural type 1, 601776"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2201",
"gene_name": "collagen type III alpha 1 chain",
"omim_gene": [
"120180"
],
"alias_name": null,
"gene_symbol": "COL3A1",
"hgnc_symbol": "COL3A1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:189839046-189877472",
"ensembl_id": "ENSG00000168542"
}
},
"GRch38": {
"90": {
"location": "2:188974320-189012746",
"ensembl_id": "ENSG00000168542"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "COL3A1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"22019127",
"25758994",
"22143279",
"30690834"
],
"evidence": [
"Expert Review Green",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Ehlers-Danlos syndrome, vascular type, 130050"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"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": [
"18345000",
"27479822",
"24326104"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Thrombocytopenia 4, OMIM:612004"
],
"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": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"28815995",
"26912466",
"27707755"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"(NO OMIM NUMBER)",
"124900 Macrothrombocytopenia and hearing loss",
"Macrothrombocytopenia and hearing loss"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"Dysbindin",
"My031",
"HPS7",
"DBND",
"BLOC1S8"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:17328",
"gene_name": "dystrobrevin binding protein 1",
"omim_gene": [
"607145"
],
"alias_name": [
"dysbindin-1",
"biogenesis of lysosomal organelles complex-1, subunit 8"
],
"gene_symbol": "DTNBP1",
"hgnc_symbol": "DTNBP1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:15523032-15663289",
"ensembl_id": "ENSG00000047579"
}
},
"GRch38": {
"90": {
"location": "6:15522801-15663058",
"ensembl_id": "ENSG00000047579"
}
}
},
"hgnc_date_symbol_changed": "2002-01-15"
},
"entity_type": "gene",
"entity_name": "DTNBP1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"12923531",
"23364359",
"28259707"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"614076 Hermansky-Pudlak syndrome 7"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"END",
"HHT1",
"CD105"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3349",
"gene_name": "endoglin",
"omim_gene": [
"131195"
],
"alias_name": null,
"gene_symbol": "ENG",
"hgnc_symbol": "ENG",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "9:130577291-130617035",
"ensembl_id": "ENSG00000106991"
}
},
"GRch38": {
"90": {
"location": "9:127815012-127854756",
"ensembl_id": "ENSG00000106991"
}
}
},
"hgnc_date_symbol_changed": "1993-03-03"
},
"entity_type": "gene",
"entity_name": "ENG",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"7894484",
"25970827",
"30251589"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"187300 Telangiectasia, hereditary hemorrhagic, type 1"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"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": [
"27365488",
"27663637",
"28555414"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"616216 Thrombocytopenia 5"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3528",
"gene_name": "coagulation factor X",
"omim_gene": [
"613872"
],
"alias_name": null,
"gene_symbol": "F10",
"hgnc_symbol": "F10",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "13:113777128-113803843",
"ensembl_id": "ENSG00000126218"
}
},
"GRch38": {
"90": {
"location": "13:113122814-113149529",
"ensembl_id": "ENSG00000126218"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "F10",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"21854511",
"20331754",
"9198147"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"227600 Factor X deficiency"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FXI"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3529",
"gene_name": "coagulation factor XI",
"omim_gene": [
"264900"
],
"alias_name": [
"plasma thromboplastin antecedent"
],
"gene_symbol": "F11",
"hgnc_symbol": "F11",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:187187099-187210835",
"ensembl_id": "ENSG00000088926"
}
},
"GRch38": {
"90": {
"location": "4:186265945-186288806",
"ensembl_id": "ENSG00000088926"
}
}
},
"hgnc_date_symbol_changed": "1988-05-11"
},
"entity_type": "gene",
"entity_name": "F11",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"16835901",
"24112640",
"29178608"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"612416 Factor XI deficiency"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3530",
"gene_name": "coagulation factor XII",
"omim_gene": [
"610619"
],
"alias_name": null,
"gene_symbol": "F12",
"hgnc_symbol": "F12",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "5:176829141-176836577",
"ensembl_id": "ENSG00000131187"
}
},
"GRch38": {
"90": {
"location": "5:177402140-177409576",
"ensembl_id": "ENSG00000131187"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "F12",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"9354665",
"20386432",
"27003566"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Angioedema, hereditary, type III, OMIM:610618",
"Factor XII deficiency, OMIM:234000"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3531",
"gene_name": "coagulation factor XIII A chain",
"omim_gene": [
"134570"
],
"alias_name": null,
"gene_symbol": "F13A1",
"hgnc_symbol": "F13A1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:6144318-6321246",
"ensembl_id": "ENSG00000124491"
}
},
"GRch38": {
"90": {
"location": "6:6144085-6321013",
"ensembl_id": "ENSG00000124491"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "F13A1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"26852661",
"28520207",
"8555083"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Factor XIIIA deficiency, OMIM:613225"
],
"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": [
"FXIIIB"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3534",
"gene_name": "coagulation factor XIII B chain",
"omim_gene": [
"134580"
],
"alias_name": null,
"gene_symbol": "F13B",
"hgnc_symbol": "F13B",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:197008321-197036397",
"ensembl_id": "ENSG00000143278"
}
},
"GRch38": {
"90": {
"location": "1:197039191-197067267",
"ensembl_id": "ENSG00000143278"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "F13B",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"11313256",
"8324218",
"20331752"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Factor XIIIB deficiency, OMIM:613235"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3535",
"gene_name": "coagulation factor II, thrombin",
"omim_gene": [
"176930"
],
"alias_name": [
"prepro-coagulation factor II"
],
"gene_symbol": "F2",
"hgnc_symbol": "F2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:46740730-46761056",
"ensembl_id": "ENSG00000180210"
}
},
"GRch38": {
"90": {
"location": "11:46719180-46739506",
"ensembl_id": "ENSG00000180210"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "F2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Wessex and West Midlands GLH",
"North West GLH",
"Yorkshire and North East GLH",
"Expert Review Green",
"NHS GMS",
"London South GLH"
],
"phenotypes": [
"613679 Factor II deficiency"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3542",
"gene_name": "coagulation factor V",
"omim_gene": [
"612309"
],
"alias_name": null,
"gene_symbol": "F5",
"hgnc_symbol": "F5",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:169483404-169555826",
"ensembl_id": "ENSG00000198734"
}
},
"GRch38": {
"90": {
"location": "1:169514166-169586588",
"ensembl_id": "ENSG00000198734"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "F5",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"19861681",
"20546033",
"19486170"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"227400 Factor V deficiency, 188055 Thrombophilia due to activated protein C resistance, 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}",
"227400 Factor V deficiency",
"188055 {Thrombophilia, susceptibility to, due to factor V Leiden}",
"188055 Thrombophilia due to activated protein C resistance"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3544",
"gene_name": "coagulation factor VII",
"omim_gene": [
"613878"
],
"alias_name": [
"eptacog alfa",
"FVII coagulation protein",
"factor VII"
],
"gene_symbol": "F7",
"hgnc_symbol": "F7",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "13:113760105-113774995",
"ensembl_id": "ENSG00000057593"
}
},
"GRch38": {
"90": {
"location": "13:113105788-113120681",
"ensembl_id": "ENSG00000057593"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "F7",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"11129332",
"21206266",
"10862079"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"227500 Factor VII deficiency"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FVIII",
"DXS1253E",
"HEMA"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3546",
"gene_name": "coagulation factor VIII",
"omim_gene": [
"300841"
],
"alias_name": [
"Factor VIIIF8B",
"hemophilia A"
],
"gene_symbol": "F8",
"hgnc_symbol": "F8",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:154064063-154255215",
"ensembl_id": "ENSG00000185010"
}
},
"GRch38": {
"90": {
"location": "X:154835788-155026940",
"ensembl_id": "ENSG00000185010"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "F8",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"22103590",
"11857744",
"18217193"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"306700 Haemophilia A"
],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FIX"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3551",
"gene_name": "coagulation factor IX",
"omim_gene": [
"300746"
],
"alias_name": [
"Factor IX",
"plasma thromboplastic component",
"Christmas disease",
"hemophilia B"
],
"gene_symbol": "F9",
"hgnc_symbol": "F9",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:138612917-138645617",
"ensembl_id": "ENSG00000101981"
}
},
"GRch38": {
"90": {
"location": "X:139530758-139563458",
"ensembl_id": "ENSG00000101981"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "F9",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"7937052",
"22103590",
"15921378"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"306900 Haemophilia B"
],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"URP2",
"KIND3",
"MIG2B",
"MGC10966",
"MIG-2",
"UNC112C"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:23151",
"gene_name": "fermitin family member 3",
"omim_gene": [
"607901"
],
"alias_name": [
"kindlin-3"
],
"gene_symbol": "FERMT3",
"hgnc_symbol": "FERMT3",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:63974150-63991354",
"ensembl_id": "ENSG00000149781"
}
},
"GRch38": {
"90": {
"location": "11:64206678-64223886",
"ensembl_id": "ENSG00000149781"
}
}
},
"hgnc_date_symbol_changed": "2007-12-14"
},
"entity_type": "gene",
"entity_name": "FERMT3",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"20357244",
"20216991"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"612840 Leukocyte integrin adhesion deficiency, type III"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3661",
"gene_name": "fibrinogen alpha chain",
"omim_gene": [
"134820"
],
"alias_name": null,
"gene_symbol": "FGA",
"hgnc_symbol": "FGA",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:155504278-155511918",
"ensembl_id": "ENSG00000171560"
}
},
"GRch38": {
"90": {
"location": "4:154583126-154590766",
"ensembl_id": "ENSG00000171560"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "FGA",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"18771425",
"23061815",
"25427968"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"202400 Afibrinogenemia, congenital",
"616004 Hypodysfibrinogenemia, congenital",
"105200 Amyloidosis, familial visceral",
"616004 Dysfibrinogenemia, congenital"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3662",
"gene_name": "fibrinogen beta chain",
"omim_gene": [
"134830"
],
"alias_name": null,
"gene_symbol": "FGB",
"hgnc_symbol": "FGB",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:155484108-155492238",
"ensembl_id": "ENSG00000171564"
}
},
"GRch38": {
"90": {
"location": "4:154562956-154571086",
"ensembl_id": "ENSG00000171564"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "FGB",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"1565641",
"12161363",
"19404555"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"202400 Afibrinogenemia, congenital",
"202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital",
"616004 Dysfibrinogenemia, congenital",
"202400 Hypofibrinogenemia, congenital",
"202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3694",
"gene_name": "fibrinogen gamma chain",
"omim_gene": [
"134850"
],
"alias_name": null,
"gene_symbol": "FGG",
"hgnc_symbol": "FGG",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:155525286-155534119",
"ensembl_id": "ENSG00000171557"
}
},
"GRch38": {
"90": {
"location": "4:154604134-154612967",
"ensembl_id": "ENSG00000171557"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "FGG",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"17295221",
"30418131",
"30349899"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"202400 Afibrinogenemia, congenital",
"616004 Hypodysfibrinogenemia, congenital",
"616004 Dysfibrinogenemia, congenital"
],
"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": [
"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": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"26316623",
"24100448",
"28255014"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"617443 BLEEDING DISORDER, PLATELET-TYPE, 21",
"BDPLT21",
"617443.BLEEDING DISORDER, PLATELET-TYPE, 21"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"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": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"16684786",
"21960593",
"29449050",
"32299270",
"21652675",
"30602618",
"31471375"
],
"evidence": [
"Expert Review Green",
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"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": [
"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": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"273900 Thrombocytopenia 3"
],
"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": [
"10700180",
"23704091",
"16103636"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia"
],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"GBA1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4177",
"gene_name": "glucosylceramidase beta",
"omim_gene": [
"606463"
],
"alias_name": null,
"gene_symbol": "GBA",
"hgnc_symbol": "GBA",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:155204243-155214490",
"ensembl_id": "ENSG00000177628"
}
},
"GRch38": {
"90": {
"location": "1:155234452-155244699",
"ensembl_id": "ENSG00000177628"
}
}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
"entity_type": "gene",
"entity_name": "GBA",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"27265538",
"27816428",
"20575041"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"230900 Gaucher disease, type II",
"231005 Gaucher disease, type IIIC",
"231000 Gaucher disease, type III",
"230800 Gaucher disease, type I"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"new-gene-name"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"ZNF163B"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4238",
"gene_name": "growth factor independent 1B transcriptional repressor",
"omim_gene": [
"604383"
],
"alias_name": null,
"gene_symbol": "GFI1B",
"hgnc_symbol": "GFI1B",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "9:135820932-135867083",
"ensembl_id": "ENSG00000165702"
}
},
"GRch38": {
"90": {
"location": "9:132944000-132991687",
"ensembl_id": "ENSG00000165702"
}
}
},
"hgnc_date_symbol_changed": "1998-09-17"
},
"entity_type": "gene",
"entity_name": "GFI1B",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"23927492",
"28041820"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"187900 Bleeding disorder, platelet-type, 17"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"VKCFD1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4247",
"gene_name": "gamma-glutamyl carboxylase",
"omim_gene": [
"137167"
],
"alias_name": [
"vitamin K-dependent gamma-carboxylase"
],
"gene_symbol": "GGCX",
"hgnc_symbol": "GGCX",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:85771846-85788670",
"ensembl_id": "ENSG00000115486"
}
},
"GRch38": {
"90": {
"location": "2:85544723-85561547",
"ensembl_id": "ENSG00000115486"
}
}
},
"hgnc_date_symbol_changed": "1994-07-04"
},
"entity_type": "gene",
"entity_name": "GGCX",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25151188",
"28679738",
"21435120"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"277450 Vitamin K-dependent clotting factors, combined deficiency of, 1"
],
"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": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"27479822",
"29941673",
"30171045"
],
"evidence": [
"Expert Review Green",
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"(NO OMIM NUMBER)",
"Myopathy associated with thrombocytopenia"
],
"mode_of_inheritance": "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": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"24934643",
"9616133",
"21357716"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"BSS",
"231200 BERNARD-SOULIER SYNDROME",
"177820 von Willebrand disease, platelet-type",
"231200BERNARD-SOULIER SYNDROME"
],
"mode_of_inheritance": "BOTH monoallelic and 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": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"9116284",
"24934643",
"28064200",
"29527674",
"30609015",
"33657022",
"33813986"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"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": [
"GPVI"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:14388",
"gene_name": "glycoprotein VI platelet",
"omim_gene": [
"605546"
],
"alias_name": [
"platelet glycoprotein VI"
],
"gene_symbol": "GP6",
"hgnc_symbol": "GP6",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:55525073-55549632",
"ensembl_id": "ENSG00000088053"
}
},
"GRch38": {
"90": {
"location": "19:55013705-55038264",
"ensembl_id": "ENSG00000088053"
}
}
},
"hgnc_date_symbol_changed": "2001-01-19"
},
"entity_type": "gene",
"entity_name": "GP6",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"19552682",
"19549989"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Bleeding disorder, platelet-type, 11, OMIM:614201"
],
"mode_of_inheritance": "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": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"24934643",
"9616133",
"21357716"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"BSS",
"231200 BERNARD-SOULIER SYNDROME",
"231200BERNARD-SOULIER SYNDROME",
"231200.BERNARD-SOULIER SYNDROME"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"BLOC3S1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:5163",
"gene_name": "HPS1, biogenesis of lysosomal organelles complex 3 subunit 1",
"omim_gene": [
"604982"
],
"alias_name": null,
"gene_symbol": "HPS1",
"hgnc_symbol": "HPS1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:100175955-100206684",
"ensembl_id": "ENSG00000107521"
}
},
"GRch38": {
"90": {
"location": "10:98416198-98446947",
"ensembl_id": "ENSG00000107521"
}
}
},
"hgnc_date_symbol_changed": "2002-05-01"
},
"entity_type": "gene",
"entity_name": "HPS1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"27514596",
"29345414",
"12442288",
"25707719"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"203300 Hermansky-Pudlak syndrome 1"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"SUTAL",
"BLOC2S1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:15597",
"gene_name": "HPS3, biogenesis of lysosomal organelles complex 2 subunit 1",
"omim_gene": [
"606118"
],
"alias_name": null,
"gene_symbol": "HPS3",
"hgnc_symbol": "HPS3",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:148847371-148891519",
"ensembl_id": "ENSG00000163755"
}
},
"GRch38": {
"90": {
"location": "3:149129584-149173732",
"ensembl_id": "ENSG00000163755"
}
}
},
"hgnc_date_symbol_changed": "2001-06-13"
},
"entity_type": "gene",
"entity_name": "HPS3",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"27514596",
"11590544",
"28284561"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"614072 Hermansky-Pudlak syndrome 3"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"KIAA1667",
"LE",
"BLOC3S2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:15844",
"gene_name": "HPS4, biogenesis of lysosomal organelles complex 3 subunit 2",
"omim_gene": [
"606682"
],
"alias_name": null,
"gene_symbol": "HPS4",
"hgnc_symbol": "HPS4",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "22:26839389-26879803",
"ensembl_id": "ENSG00000100099"
}
},
"GRch38": {
"90": {
"location": "22:26443423-26483837",
"ensembl_id": "ENSG00000100099"
}
}
},
"hgnc_date_symbol_changed": "2001-06-28"
},
"entity_type": "gene",
"entity_name": "HPS4",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"27514596",
"12664304",
"29108692"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"614073 Hermansky-Pudlak syndrome 4"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"BLOC2S2",
"AIBP63",
"RU2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:17022",
"gene_name": "HPS5, biogenesis of lysosomal organelles complex 2 subunit 2",
"omim_gene": [
"607521"
],
"alias_name": [
"alpha-integrin-binding protein 63",
"Ruby-eye protein 2 homolog"
],
"gene_symbol": "HPS5",
"hgnc_symbol": "HPS5",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:18300223-18343745",
"ensembl_id": "ENSG00000110756"
}
},
"GRch38": {
"90": {
"location": "11:18278668-18322198",
"ensembl_id": "ENSG00000110756"
}
}
},
"hgnc_date_symbol_changed": "2002-06-13"
},
"entity_type": "gene",
"entity_name": "HPS5",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"27514596",
"28296950",
"28640947"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"614074 Hermansky-Pudlak syndrome 5"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ22501",
"BLOC2S3"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:18817",
"gene_name": "HPS6, biogenesis of lysosomal organelles complex 2 subunit 3",
"omim_gene": [
"607522"
],
"alias_name": null,
"gene_symbol": "HPS6",
"hgnc_symbol": "HPS6",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:103825147-103827792",
"ensembl_id": "ENSG00000166189"
}
},
"GRch38": {
"90": {
"location": "10:102065390-102068038",
"ensembl_id": "ENSG00000166189"
}
}
},
"hgnc_date_symbol_changed": "2004-02-04"
},
"entity_type": "gene",
"entity_name": "HPS6",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"27514596",
"27593200",
"19843503"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"614075 Hermansky-Pudlak syndrome 6"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"Pegasus",
"FLJ22973"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:14283",
"gene_name": "IKAROS family zinc finger 5",
"omim_gene": [
"606238"
],
"alias_name": null,
"gene_symbol": "IKZF5",
"hgnc_symbol": "IKZF5",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:124750322-124768333",
"ensembl_id": "ENSG00000095574"
}
},
"GRch38": {
"90": {
"location": "10:122990806-123008817",
"ensembl_id": "ENSG00000095574"
}
}
},
"hgnc_date_symbol_changed": "2006-08-25"
},
"entity_type": "gene",
"entity_name": "IKZF5",
"confidence_level": "3",
"penetrance": "unknown",
"mode_of_pathogenicity": "Other",
"publications": [
"31217188",
"32419556"
],
"evidence": [
"Expert Review Green",
"Literature",
"Expert Review"
],
"phenotypes": [
"Thrombocytopenia (HP:0001873), Reduced platelet alpha granules (HP:0012528)."
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"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": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"29675921",
"25728920",
"24498605"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"273800 Glanzmann thrombasthenia",
"187800 Bleeding disorder, platelet-type, 16, autosomal dominant"
],
"mode_of_inheritance": "BOTH monoallelic and 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": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"19691478",
"25728920",
"20020534"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"273800 Glanzmann thrombasthenia",
"187800 Bleeding disorder, platelet-type, 16, autosomal dominant"
],
"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": [
"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": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"30467204"
],
"evidence": [
"Expert Review Green",
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"(NO OMIM NUMBER OR DISEASE)",
"Recessive severe thrombocytopenia with progression to marrow fibrosis at young age"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6371",
"gene_name": "kallikrein B1",
"omim_gene": [
"229000"
],
"alias_name": [
"Fletcher factor"
],
"gene_symbol": "KLKB1",
"hgnc_symbol": "KLKB1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:187130133-187179625",
"ensembl_id": "ENSG00000164344"
}
},
"GRch38": {
"90": {
"location": "4:186208979-186258471",
"ensembl_id": "ENSG00000164344"
}
}
},
"hgnc_date_symbol_changed": "1999-04-23"
},
"entity_type": "gene",
"entity_name": "KLKB1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"17598838",
"14652634",
"20301226"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"612423 Fletcher factor (prekallikrein) deficiency"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"BK"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6383",
"gene_name": "kininogen 1",
"omim_gene": [
"612358"
],
"alias_name": [
"alpha-2-thiol proteinase inhibitor",
"bradykinin"
],
"gene_symbol": "KNG1",
"hgnc_symbol": "KNG1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:186435065-186461743",
"ensembl_id": "ENSG00000113889"
}
},
"GRch38": {
"90": {
"location": "3:186717276-186743954",
"ensembl_id": "ENSG00000113889"
}
}
},
"hgnc_date_symbol_changed": "2004-05-26"
},
"entity_type": "gene",
"entity_name": "KNG1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"12576314",
"24492696",
"7901207"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"228960 [High molecular weight kininogen deficiency]",
"228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency]",
"[Kininogen deficiency]"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"MR60",
"ERGIC-53",
"ERGIC53",
"gp58",
"MCFD1",
"FMFD1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6631",
"gene_name": "lectin, mannose binding 1",
"omim_gene": [
"601567"
],
"alias_name": [
"endoplasmic reticulum-golgi intermediate compartment protein 53"
],
"gene_symbol": "LMAN1",
"hgnc_symbol": "LMAN1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "18:56995055-57027194",
"ensembl_id": "ENSG00000074695"
}
},
"GRch38": {
"90": {
"location": "18:59327823-59359962",
"ensembl_id": "ENSG00000074695"
}
}
},
"hgnc_date_symbol_changed": "1996-06-06"
},
"entity_type": "gene",
"entity_name": "LMAN1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"10090934",
"10090935",
"16304051"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"227300 Combined factor V and VIII deficiency"
],
"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": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"9215680",
"11857544",
"21209802"
],
"evidence": [
"North West GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"214500 Chediak-Higashi syndrome"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"F5F8D",
"LMAN1IP",
"SDNSF"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:18451",
"gene_name": "multiple coagulation factor deficiency 2",
"omim_gene": [
"607788"
],
"alias_name": null,
"gene_symbol": "MCFD2",
"hgnc_symbol": "MCFD2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:47129009-47168994",
"ensembl_id": "ENSG00000180398"
}
},
"GRch38": {
"90": {
"location": "2:46901870-46941855",
"ensembl_id": "ENSG00000180398"
}
}
},
"hgnc_date_symbol_changed": "2003-06-24"
},
"entity_type": "gene",
"entity_name": "MCFD2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"20004600",
"12717434",
"16304051"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"613625 Factor V and factor VIII, combined deficiency of"
],
"mode_of_inheritance": "BIALLELIC, 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": [
"26581901",
"29540340",
"29519864"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"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": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"29898956",
"27743390"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"617441 ?Thrombocytopenia, anemia, and myelofibrosis"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"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": [
"16470591",
"11133753",
"22180433"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Thrombocytopenia, congenital amegakaryocytic, OMIM:604498"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"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": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"28368695",
"29679756",
"24186861"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"155100, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss",
"155100 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"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": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"21765412",
"27870194",
"21765411"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"139090, Gray platelet syndrome",
"139090 Gray platelet syndrome"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"P2Y12",
"SP1999",
"HORK3"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:18124",
"gene_name": "purinergic receptor P2Y12",
"omim_gene": [
"600515"
],
"alias_name": null,
"gene_symbol": "P2RY12",
"hgnc_symbol": "P2RY12",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:151055168-151102600",
"ensembl_id": "ENSG00000169313"
}
},
"GRch38": {
"90": {
"location": "3:151337380-151384812",
"ensembl_id": "ENSG00000169313"
}
}
},
"hgnc_date_symbol_changed": "2002-12-10"
},
"entity_type": "gene",
"entity_name": "P2RY12",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"11196645",
"609821",
"20966167"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"600515.PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12",
"P2RY12",
"600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"cPLA2-alpha"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9035",
"gene_name": "phospholipase A2 group IVA",
"omim_gene": [
"600522"
],
"alias_name": null,
"gene_symbol": "PLA2G4A",
"hgnc_symbol": "PLA2G4A",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:186798085-186958113",
"ensembl_id": "ENSG00000116711"
}
},
"GRch38": {
"90": {
"location": "1:186828953-186988981",
"ensembl_id": "ENSG00000116711"
}
}
},
"hgnc_date_symbol_changed": "1994-11-30"
},
"entity_type": "gene",
"entity_name": "PLA2G4A",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"21247147",
"18451993",
"23268370"
],
"evidence": [
"Expert Review Green",
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Phospholipase A2, group IV A, deficiency of",
"(NO OMIM NUMBER)"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"URK",
"UPA"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9052",
"gene_name": "plasminogen activator, urokinase",
"omim_gene": [
"191840"
],
"alias_name": null,
"gene_symbol": "PLAU",
"hgnc_symbol": "PLAU",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:75668935-75677255",
"ensembl_id": "ENSG00000122861"
}
},
"GRch38": {
"90": {
"location": "10:73909177-73917497",
"ensembl_id": "ENSG00000122861"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "PLAU",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"28301587",
"20007542"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"601709 Quebec platelet disorder"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"COX1",
"PGHS-1",
"PTGHS"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9604",
"gene_name": "prostaglandin-endoperoxide synthase 1",
"omim_gene": [
"176805"
],
"alias_name": [
"cyclooxygenase-1"
],
"gene_symbol": "PTGS1",
"hgnc_symbol": "PTGS1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "9:125132824-125157982",
"ensembl_id": "ENSG00000095303"
}
},
"GRch38": {
"90": {
"location": "9:122370530-122395703",
"ensembl_id": "ENSG00000095303"
}
}
},
"hgnc_date_symbol_changed": "1992-10-27"
},
"entity_type": "gene",
"entity_name": "PTGS1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"11442478",
"27629384",
"8562397",
"28748566",
"6103258",
"32299908",
"24008976",
"33326144",
"32584621"
],
"evidence": [
"Expert Review Green",
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"BDPLT12",
"605735 BLEEDING DISORDER, PLATELET-TYPE, 12"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"gene-checked"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"CALDAG-GEFI"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9879",
"gene_name": "RAS guanyl releasing protein 2",
"omim_gene": [
"605577"
],
"alias_name": [
"calcium- and diacylglycerol-regulated guanine nucleotide exchange factor I"
],
"gene_symbol": "RASGRP2",
"hgnc_symbol": "RASGRP2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:64494383-64512928",
"ensembl_id": "ENSG00000068831"
}
},
"GRch38": {
"90": {
"location": "11:64726911-64745456",
"ensembl_id": "ENSG00000068831"
}
}
},
"hgnc_date_symbol_changed": "1999-07-21"
},
"entity_type": "gene",
"entity_name": "RASGRP2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"28637664",
"27235135",
"28762304"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"615888 ?Bleeding disorder, platelet-type, 18"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"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": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"22366785",
"24053387"
],
"evidence": [
"Expert Review Green",
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"274000 Thrombocytopenia-absent radius syndrome"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"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": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"28240786",
"24100448",
"10508512"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"601399 Platelet disorder, familial, with associated myeloid malignancy"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"PAI"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8583",
"gene_name": "serpin family E member 1",
"omim_gene": [
"173360"
],
"alias_name": [
"plasminogen activator inhibitor, type I"
],
"gene_symbol": "SERPINE1",
"hgnc_symbol": "SERPINE1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:100770370-100782547",
"ensembl_id": "ENSG00000106366"
}
},
"GRch38": {
"90": {
"location": "7:101127089-101139266",
"ensembl_id": "ENSG00000106366"
}
}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
"entity_type": "gene",
"entity_name": "SERPINE1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [],
"evidence": [
"Wessex and West Midlands GLH",
"North West GLH",
"Yorkshire and North East GLH",
"Expert Review Green",
"NHS GMS",
"London South GLH"
],
"phenotypes": [
"613329 Plasminogen activator inhibitor-1 deficiency"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"API",
"ALPHA-2-PI",
"A2AP",
"AAP"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9075",
"gene_name": "serpin family F member 2",
"omim_gene": [
"613168"
],
"alias_name": [
"alpha-2-plasmin inhibitor",
"alpha-2-antiplasmin"
],
"gene_symbol": "SERPINF2",
"hgnc_symbol": "SERPINF2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:1646130-1658562",
"ensembl_id": "ENSG00000167711"
}
},
"GRch38": {
"90": {
"location": "17:1742836-1755268",
"ensembl_id": "ENSG00000167711"
}
}
},
"hgnc_date_symbol_changed": "1989-04-14"
},
"entity_type": "gene",
"entity_name": "SERPINF2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"14999928",
"29656168",
"17961166"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"262850 Alpha-2-plasmin inhibitor deficiency"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"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": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"26769223",
"26280575"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"616913 Bleeding disorder, platelet-type, 20"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"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": [
"26936507"
],
"evidence": [
"Expert Review Green",
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"616937 ?Thrombocytopenia 6"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"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": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"19420366",
"27876257"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"185070 Stormorken syndrome"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"UNC18B",
"Hunc18b"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11445",
"gene_name": "syntaxin binding protein 2",
"omim_gene": [
"601717"
],
"alias_name": null,
"gene_symbol": "STXBP2",
"hgnc_symbol": "STXBP2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:7701767-7712759",
"ensembl_id": "ENSG00000076944"
}
},
"GRch38": {
"90": {
"location": "19:7636881-7647873",
"ensembl_id": "ENSG00000076944"
}
}
},
"hgnc_date_symbol_changed": "1996-12-27"
},
"entity_type": "gene",
"entity_name": "STXBP2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"20798128",
"25564401",
"19804848"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"613101 Hemophagocytic lymphohistiocytosis, familial, 5"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11608",
"gene_name": "thromboxane A2 receptor",
"omim_gene": [
"188070"
],
"alias_name": null,
"gene_symbol": "TBXA2R",
"hgnc_symbol": "TBXA2R",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:3594504-3606838",
"ensembl_id": "ENSG00000006638"
}
},
"GRch38": {
"90": {
"location": "19:3594506-3606840",
"ensembl_id": "ENSG00000006638"
}
}
},
"hgnc_date_symbol_changed": "1991-08-08"
},
"entity_type": "gene",
"entity_name": "TBXA2R",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"22517902",
"8972034",
"24452735",
"30089223",
"19828703",
"8428006"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"{Bleeding disorder, platelet-type, 13, susceptibility to}, OMIM:614009"
],
"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": [
"CYP5",
"CYP5A1",
"THAS",
"TXS",
"TXAS",
"TS"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11609",
"gene_name": "thromboxane A synthase 1",
"omim_gene": [
"274180"
],
"alias_name": [
"cytochrome P450, family 5, subfamily A, polypeptide 1"
],
"gene_symbol": "TBXAS1",
"hgnc_symbol": "TBXAS1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:139476850-139720125",
"ensembl_id": "ENSG00000059377"
}
},
"GRch38": {
"90": {
"location": "7:139777051-140020325",
"ensembl_id": "ENSG00000059377"
}
}
},
"hgnc_date_symbol_changed": "1992-10-07"
},
"entity_type": "gene",
"entity_name": "TBXAS1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"18264100",
"28868793"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Ghosal hematodiaphyseal syndrome, OMIM:231095",
"?Thromboxane synthase deficiency, OMIM:614158",
"Bleeding disorder, platelet-type, 14, OMIM:614158"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CD141"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11784",
"gene_name": "thrombomodulin",
"omim_gene": [
"188040"
],
"alias_name": null,
"gene_symbol": "THBD",
"hgnc_symbol": "THBD",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "20:23026270-23030378",
"ensembl_id": "ENSG00000178726"
}
},
"GRch38": {
"90": {
"location": "20:23045633-23049741",
"ensembl_id": "ENSG00000178726"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "THBD",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25564403"
],
"evidence": [
"Expert Review Green",
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"AD bleeding disorder",
"614486 Thrombophilia due to thrombomodulin defect"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"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": [
"28466964",
"28559357",
"29191945"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"187950 Thrombocytopenia and thrombocythemia 1"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"TNXBS",
"XBS",
"XB"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11976",
"gene_name": "tenascin XB",
"omim_gene": [
"600985"
],
"alias_name": null,
"gene_symbol": "TNXB",
"hgnc_symbol": "TNXB",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:32008931-32083111",
"ensembl_id": "ENSG00000168477"
}
},
"GRch38": {
"90": {
"location": "6:32041154-32115334",
"ensembl_id": "ENSG00000168477"
}
}
},
"hgnc_date_symbol_changed": "2000-07-25"
},
"entity_type": "gene",
"entity_name": "TNXB",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"28306229",
"28306225",
"11642233",
"15733269",
"23768946",
"27582382"
],
"evidence": [
"Expert Review Green",
"Expert Review"
],
"phenotypes": [
"Ehlers-Danlos syndrome due to tenascin X deficiency, 606408",
"significant bruising/haematomas"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:12013",
"gene_name": "tropomyosin 4",
"omim_gene": [
"600317"
],
"alias_name": null,
"gene_symbol": "TPM4",
"hgnc_symbol": "TPM4",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:16177831-16213813",
"ensembl_id": "ENSG00000167460"
}
},
"GRch38": {
"90": {
"location": "19:16067021-16103005",
"ensembl_id": "ENSG00000167460"
}
}
},
"hgnc_date_symbol_changed": "1991-07-18"
},
"entity_type": "gene",
"entity_name": "TPM4",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"27479822",
"28134622"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [
"gene-checked"
],
"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": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"27479822",
"27905099",
"24344610"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"VIPAR",
"VPS16B",
"SPE-39",
"SPE39",
"hSPE-39"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:20347",
"gene_name": "VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog",
"omim_gene": [
"613401"
],
"alias_name": [
"VPS33B interacting protein, apical-basolateral polarity regulator"
],
"gene_symbol": "VIPAS39",
"hgnc_symbol": "VIPAS39",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "14:77893018-77924295",
"ensembl_id": "ENSG00000151445"
}
},
"GRch38": {
"90": {
"location": "14:77426675-77457952",
"ensembl_id": "ENSG00000151445"
}
}
},
"hgnc_date_symbol_changed": "2012-07-24"
},
"entity_type": "gene",
"entity_name": "VIPAS39",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"22753090",
"28039895",
"20190753"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"613404 Arthrogryposis, renal dysfunction, and cholestasis 2"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:23663",
"gene_name": "vitamin K epoxide reductase complex subunit 1",
"omim_gene": [
"608547"
],
"alias_name": null,
"gene_symbol": "VKORC1",
"hgnc_symbol": "VKORC1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "16:31102163-31107301",
"ensembl_id": "ENSG00000167397"
}
},
"GRch38": {
"90": {
"location": "16:31090842-31095980",
"ensembl_id": "ENSG00000167397"
}
}
},
"hgnc_date_symbol_changed": "2004-02-04"
},
"entity_type": "gene",
"entity_name": "VKORC1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"26287237",
"14765194",
"20946155"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473",
"Warfarin resistance, OMIM:122700"
],
"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": [
"FLJ14848"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:12712",
"gene_name": "VPS33B, late endosome and lysosome associated",
"omim_gene": [
"608552"
],
"alias_name": null,
"gene_symbol": "VPS33B",
"hgnc_symbol": "VPS33B",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "15:91541646-91565833",
"ensembl_id": "ENSG00000184056"
}
},
"GRch38": {
"90": {
"location": "15:90998416-91022603",
"ensembl_id": "ENSG00000184056"
}
}
},
"hgnc_date_symbol_changed": "1999-11-19"
},
"entity_type": "gene",
"entity_name": "VPS33B",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"15052268",
"16896922",
"22753090"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"208085 Arthrogryposis, renal dysfunction, and cholestasis 1"
],
"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": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"16985174",
"23407766",
"28971901"
],
"evidence": [
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"613554 von Willebrand disease, types 2A, 2B, 2M, and 2N",
"277480 von Willibrand disease, type 3",
"193400 von Willebrand disease, type 1"
],
"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": [
"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": [
"20173115",
"15284122",
"17400488"
],
"evidence": [
"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 (intermittent)",
"300299 Neutropenia, severe congenital, X-linked",
"313900 Thrombocytopenia, X-linked intermittent",
"301000 Wiskott-Aldrich syndrome"
],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"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": [
"11586351",
"12181489",
"12753286",
"14512317",
"15009458",
"15521921",
"30792199",
"32197596",
"32255295",
"33014938",
"33072671"
],
"evidence": [
"Expert Review Amber",
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"Q4_23_NHS_review",
"Q4_23_promote_green"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"MU",
"dJ303A1.3"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:18561",
"gene_name": "biogenesis of lysosomal organelles complex 1 subunit 5",
"omim_gene": [
"607289"
],
"alias_name": null,
"gene_symbol": "BLOC1S5",
"hgnc_symbol": "BLOC1S5",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:8013800-8064647",
"ensembl_id": "ENSG00000188428"
}
},
"GRch38": {
"90": {
"location": "6:8013567-8064414",
"ensembl_id": "ENSG00000188428"
}
}
},
"hgnc_date_symbol_changed": "2012-08-01"
},
"entity_type": "gene",
"entity_name": "BLOC1S5",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"32565547",
"34685610",
"34058075"
],
"evidence": [
"Expert Review Amber",
"Literature"
],
"phenotypes": [
"Hermansky–Pudlak syndrome 11, OMIM:619172",
"Hermansky-Pudlak syndrome 11, MONDO:0030903"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"Q4_23_promote_green",
"Q4_23_NHS_review"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"OI4"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2197",
"gene_name": "collagen type I alpha 1 chain",
"omim_gene": [
"120150"
],
"alias_name": null,
"gene_symbol": "COL1A1",
"hgnc_symbol": "COL1A1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:48260650-48278993",
"ensembl_id": "ENSG00000108821"
}
},
"GRch38": {
"90": {
"location": "17:50183289-50201632",
"ensembl_id": "ENSG00000108821"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "COL1A1",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"27011056"
],
"evidence": [
"Expert Review Amber",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"114000 Caffey disease",
"130060 Ehlers-Danlos syndrome, arthrochalasia type, 1"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2209",
"gene_name": "collagen type V alpha 1 chain",
"omim_gene": [
"120215"
],
"alias_name": [
"alpha 1 type V collagen"
],
"gene_symbol": "COL5A1",
"hgnc_symbol": "COL5A1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "9:137533620-137736686",
"ensembl_id": "ENSG00000130635"
}
},
"GRch38": {
"90": {
"location": "9:134641774-134844843",
"ensembl_id": "ENSG00000130635"
}
}
},
"hgnc_date_symbol_changed": "1992-02-26"
},
"entity_type": "gene",
"entity_name": "COL5A1",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"22696272",
"28485813",
"23587214"
],
"evidence": [
"Expert Review Amber",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"130000 Ehlers-Danlos syndrome, classic type, 1"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2210",
"gene_name": "collagen type V alpha 2 chain",
"omim_gene": [
"120190"
],
"alias_name": [
"AB collagen"
],
"gene_symbol": "COL5A2",
"hgnc_symbol": "COL5A2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:189896622-190044605",
"ensembl_id": "ENSG00000204262"
}
},
"GRch38": {
"90": {
"location": "2:189031896-189179879",
"ensembl_id": "ENSG00000204262"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "COL5A2",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"15580559",
":28485813",
"25987251"
],
"evidence": [
"Expert Review Amber",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"130010 Ehlers-Danlos syndrome, classic type, 2"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"Hek5",
"Tyro5"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3393",
"gene_name": "EPH receptor B2",
"omim_gene": [
"600997"
],
"alias_name": null,
"gene_symbol": "EPHB2",
"hgnc_symbol": "EPHB2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:23037332-23241818",
"ensembl_id": "ENSG00000133216"
}
},
"GRch38": {
"90": {
"location": "1:22710839-22921500",
"ensembl_id": "ENSG00000133216"
}
}
},
"hgnc_date_symbol_changed": "1995-05-09"
},
"entity_type": "gene",
"entity_name": "EPHB2",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"30213874"
],
"evidence": [
"Expert Review Amber",
"North West GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"TR",
"CF2R",
"PAR1",
"PAR-1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3537",
"gene_name": "coagulation factor II thrombin receptor",
"omim_gene": [
"187930"
],
"alias_name": [
"protease activated receptor 1"
],
"gene_symbol": "F2R",
"hgnc_symbol": "F2R",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "5:76011868-76031606",
"ensembl_id": "ENSG00000181104"
}
},
"GRch38": {
"90": {
"location": "5:76716043-76735781",
"ensembl_id": "ENSG00000181104"
}
}
},
"hgnc_date_symbol_changed": "1991-07-16"
},
"entity_type": "gene",
"entity_name": "F2R",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"26630678"
],
"evidence": [
"Expert Review Amber",
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Type 1 VWD"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"SDR1E1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4116",
"gene_name": "UDP-galactose-4-epimerase",
"omim_gene": [
"606953"
],
"alias_name": [
"short chain dehydrogenase/reductase family 1E, member 1",
"UDP-glucose 4-epimerase"
],
"gene_symbol": "GALE",
"hgnc_symbol": "GALE",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:24122089-24127271",
"ensembl_id": "ENSG00000117308"
}
},
"GRch38": {
"90": {
"location": "1:23795599-23800804",
"ensembl_id": "ENSG00000117308"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "GALE",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"30247636"
],
"evidence": [
"Expert Review Amber",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Inherited Thrombocytopenia assiciated with mutation of UDP-Galactose-4-Epimerase (GALE)"
],
"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": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"16765069",
"11101832"
],
"evidence": [
"Expert Review Amber",
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"KIAA1438",
"MAL",
"MRTF-A",
"BSAC",
"MKL"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:14334",
"gene_name": "megakaryoblastic leukemia (translocation) 1",
"omim_gene": [
"606078"
],
"alias_name": [
"megakaryocytic acute leukemia",
"myocardin-related transcription factor A",
"basic, SAP and coiled-coil domain"
],
"gene_symbol": "MKL1",
"hgnc_symbol": "MKL1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "22:40806285-41032706",
"ensembl_id": "ENSG00000196588"
}
},
"GRch38": {
"90": {
"location": "22:40410281-40636702",
"ensembl_id": "ENSG00000196588"
}
}
},
"hgnc_date_symbol_changed": "2001-05-10"
},
"entity_type": "gene",
"entity_name": "MKL1",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"27479822"
],
"evidence": [
"Expert Review Amber",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [
"new-gene-name"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"P2X1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8533",
"gene_name": "purinergic receptor P2X 1",
"omim_gene": [
"600845"
],
"alias_name": null,
"gene_symbol": "P2RX1",
"hgnc_symbol": "P2RX1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:3799886-3819794",
"ensembl_id": "ENSG00000108405"
}
},
"GRch38": {
"90": {
"location": "17:3896592-3916500",
"ensembl_id": "ENSG00000108405"
}
}
},
"hgnc_date_symbol_changed": "1997-01-16"
},
"entity_type": "gene",
"entity_name": "P2RX1",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"10816552"
],
"evidence": [
"Expert Review Amber",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Purinergic receptor P2X, ligand-gated ion channel, 1 DEFICIENCY"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"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": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"none submitted"
],
"evidence": [
"Expert Review Amber",
"North West GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"163950 Noonan syndrome 1"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"DEP1",
"HPTPeta",
"CD148"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9673",
"gene_name": "protein tyrosine phosphatase, receptor type J",
"omim_gene": [
"600925"
],
"alias_name": null,
"gene_symbol": "PTPRJ",
"hgnc_symbol": "PTPRJ",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:48002113-48189670",
"ensembl_id": "ENSG00000149177"
}
},
"GRch38": {
"90": {
"location": "11:47980558-48170841",
"ensembl_id": "ENSG00000149177"
}
}
},
"hgnc_date_symbol_changed": "1994-09-14"
},
"entity_type": "gene",
"entity_name": "PTPRJ",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"30591527"
],
"evidence": [
"Expert Review Amber",
"North West GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9998",
"gene_name": "regulator of G protein signaling 2",
"omim_gene": [
"600861"
],
"alias_name": null,
"gene_symbol": "RGS2",
"hgnc_symbol": "RGS2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:192778169-192781403",
"ensembl_id": "ENSG00000116741"
}
},
"GRch38": {
"90": {
"location": "1:192809039-192812283",
"ensembl_id": "ENSG00000116741"
}
}
},
"hgnc_date_symbol_changed": "1994-11-01"
},
"entity_type": "gene",
"entity_name": "RGS2",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"20403096",
"28784619"
],
"evidence": [
"Expert Review Amber",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [],
"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": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"none submitted"
],
"evidence": [
"Expert Review Amber",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"Roifman syndrome, OMIM:616651"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"AIM-1",
"OCA4"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:16472",
"gene_name": "solute carrier family 45 member 2",
"omim_gene": [
"606202"
],
"alias_name": null,
"gene_symbol": "SLC45A2",
"hgnc_symbol": "SLC45A2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "5:33944721-33984835",
"ensembl_id": "ENSG00000164175"
}
},
"GRch38": {
"90": {
"location": "5:33944616-33984730",
"ensembl_id": "ENSG00000164175"
}
}
},
"hgnc_date_symbol_changed": "2005-10-06"
},
"entity_type": "gene",
"entity_name": "SLC45A2",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"none submitted"
],
"evidence": [
"Expert Review Amber",
"North West GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"606574 Albinism, oculocutaneous, type IV"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"DPC4"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6770",
"gene_name": "SMAD family member 4",
"omim_gene": [
"600993"
],
"alias_name": null,
"gene_symbol": "SMAD4",
"hgnc_symbol": "SMAD4",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "18:48494410-48611415",
"ensembl_id": "ENSG00000141646"
}
},
"GRch38": {
"90": {
"location": "18:51028394-51085045",
"ensembl_id": "ENSG00000141646"
}
}
},
"hgnc_date_symbol_changed": "2004-05-26"
},
"entity_type": "gene",
"entity_name": "SMAD4",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25269631",
"24001356",
"30251589",
"16613914"
],
"evidence": [
"Expert Review Amber",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"hereditary hemorrhagic telangiectasia syndrome"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CHAK1",
"LTRPC7",
"TRP-PLIK"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:17994",
"gene_name": "transient receptor potential cation channel subfamily M member 7",
"omim_gene": [
"605692"
],
"alias_name": null,
"gene_symbol": "TRPM7",
"hgnc_symbol": "TRPM7",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "15:50844670-50979012",
"ensembl_id": "ENSG00000092439"
}
},
"GRch38": {
"90": {
"location": "15:50552473-50686815",
"ensembl_id": "ENSG00000092439"
}
}
},
"hgnc_date_symbol_changed": "2002-01-11"
},
"entity_type": "gene",
"entity_name": "TRPM7",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"27020697"
],
"evidence": [
"Expert Review Amber",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"macrothrombocytopenia"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"Munc13-4"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:23147",
"gene_name": "unc-13 homolog D",
"omim_gene": [
"608897"
],
"alias_name": null,
"gene_symbol": "UNC13D",
"hgnc_symbol": "UNC13D",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:73823306-73840798",
"ensembl_id": "ENSG00000092929"
}
},
"GRch38": {
"90": {
"location": "17:75827225-75844717",
"ensembl_id": "ENSG00000092929"
}
}
},
"hgnc_date_symbol_changed": "2003-10-16"
},
"entity_type": "gene",
"entity_name": "UNC13D",
"confidence_level": "2",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"28399723",
"28748566"
],
"evidence": [
"Expert Review Amber",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ25138",
"DKFZP434F0318"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:25268",
"gene_name": "apolipoprotein L domain containing 1",
"omim_gene": [
"612456"
],
"alias_name": null,
"gene_symbol": "APOLD1",
"hgnc_symbol": "APOLD1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:12878851-12982909",
"ensembl_id": "ENSG00000178878"
}
},
"GRch38": {
"90": {
"location": "12:12725917-12829975",
"ensembl_id": "ENSG00000178878"
}
}
},
"hgnc_date_symbol_changed": "2006-01-23"
},
"entity_type": "gene",
"entity_name": "APOLD1",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"35638551"
],
"evidence": [
"Literature"
],
"phenotypes": [
"inherited bleeding disorder"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": []
},
{
"gene_data": {
"alias": [
"CD49b"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6137",
"gene_name": "integrin subunit alpha 2",
"omim_gene": [
"192974"
],
"alias_name": [
"alpha 2 subunit of VLA-2 receptor"
],
"gene_symbol": "ITGA2",
"hgnc_symbol": "ITGA2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "5:52285156-52390609",
"ensembl_id": "ENSG00000164171"
}
},
"GRch38": {
"90": {
"location": "5:52989326-53094779",
"ensembl_id": "ENSG00000164171"
}
}
},
"hgnc_date_symbol_changed": "1991-08-06"
},
"entity_type": "gene",
"entity_name": "ITGA2",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"10590055"
],
"evidence": [
"Expert Review Red",
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"614200 ?Glycoprotein Ia deficiency"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"MAST205",
"KIAA0807"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:19035",
"gene_name": "microtubule associated serine/threonine kinase 2",
"omim_gene": [
"612257"
],
"alias_name": null,
"gene_symbol": "MAST2",
"hgnc_symbol": "MAST2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:46252659-46501796",
"ensembl_id": "ENSG00000086015"
}
},
"GRch38": {
"90": {
"location": "1:45786987-46036124",
"ensembl_id": "ENSG00000086015"
}
}
},
"hgnc_date_symbol_changed": "2004-02-10"
},
"entity_type": "gene",
"entity_name": "MAST2",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"33465109"
],
"evidence": [
"Expert Review Red",
"Literature"
],
"phenotypes": [
"Venous thromboembolism",
"Thrombophilia"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"KIAA1544",
"BCL8B",
"FLJ10197",
"LYST2"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:7648",
"gene_name": "neurobeachin",
"omim_gene": [
"604889"
],
"alias_name": null,
"gene_symbol": "NBEA",
"hgnc_symbol": "NBEA",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "13:35516424-36247159",
"ensembl_id": "ENSG00000172915"
}
},
"GRch38": {
"90": {
"location": "13:34942287-35673022",
"ensembl_id": "ENSG00000172915"
}
}
},
"hgnc_date_symbol_changed": "1999-12-16"
},
"entity_type": "gene",
"entity_name": "NBEA",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"28748566"
],
"evidence": [
"Expert Review Red",
"North West GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"PKACg"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:9382",
"gene_name": "protein kinase cAMP-activated catalytic subunit gamma",
"omim_gene": [
"176893"
],
"alias_name": null,
"gene_symbol": "PRKACG",
"hgnc_symbol": "PRKACG",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "9:71627469-71629039",
"ensembl_id": "ENSG00000165059"
}
},
"GRch38": {
"90": {
"location": "9:69012529-69014113",
"ensembl_id": "ENSG00000165059"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "PRKACG",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"25061177",
"30819905"
],
"evidence": [
"Expert Review Red",
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [
"?Bleeding disorder, platelet-type, 19, OMIM:616176",
"Platelet-type bleeding disorder 19, MONDO:0014518"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11429",
"gene_name": "syntaxin 11",
"omim_gene": [
"605014"
],
"alias_name": null,
"gene_symbol": "STX11",
"hgnc_symbol": "STX11",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "6:144471663-144509507",
"ensembl_id": "ENSG00000135604"
}
},
"GRch38": {
"90": {
"location": "6:144150526-144188370",
"ensembl_id": "ENSG00000135604"
}
}
},
"hgnc_date_symbol_changed": "1998-11-30"
},
"entity_type": "gene",
"entity_name": "STX11",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"28399723"
],
"evidence": [
"Expert Review Red",
"North West GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
"phenotypes": [],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"ILWEQ"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:11845",
"gene_name": "talin 1",
"omim_gene": [
"186745"
],
"alias_name": null,
"gene_symbol": "TLN1",
"hgnc_symbol": "TLN1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "9:35696945-35732392",
"ensembl_id": "ENSG00000137076"
}
},
"GRch38": {
"90": {
"location": "9:35696948-35732395",
"ensembl_id": "ENSG00000137076"
}
}
},
"hgnc_date_symbol_changed": "1996-10-31"
},
"entity_type": "gene",
"entity_name": "TLN1",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"35861643"
],
"evidence": [
"Literature"
],
"phenotypes": [
"thrombocytopenia, MONDO:0002049"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"tags": [],
"transcript": []
}
],
"strs": [],
"regions": []
}