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{
"id": 945,
"name": "Thrombocythaemia",
"strs": [],
"genes": [
{
"tags": [
"somatic"
],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"gene_data": {
"alias": [
"JTK10"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:6192",
"gene_name": "Janus kinase 2",
"omim_gene": [
"147796"
],
"alias_name": null,
"gene_symbol": "JAK2",
"hgnc_symbol": "JAK2",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "9:4985033-5128183",
"ensembl_id": "ENSG00000096968"
}
},
"GRch38": {
"90": {
"location": "9:4984390-5128183",
"ensembl_id": "ENSG00000096968"
}
}
},
"hgnc_date_symbol_changed": "1992-04-16"
},
"penetrance": null,
"phenotypes": [
"Thrombocythemia 3, 614521"
],
"transcript": null,
"entity_name": "JAK2",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"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"
},
"penetrance": null,
"phenotypes": [
"Thrombocythemia 2, 601977"
],
"transcript": null,
"entity_name": "MPL",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Green"
],
"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"
},
"penetrance": null,
"phenotypes": [
"Thrombocythemia 1, 187950"
],
"transcript": null,
"entity_name": "THPO",
"entity_type": "gene",
"publications": [],
"confidence_level": "3",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": ""
},
{
"tags": [
"somatic"
],
"evidence": [
"Expert Review Amber",
"NHS GMS"
],
"gene_data": {
"alias": [
"RO",
"SSA",
"cC1qR",
"CRT",
"FLJ26680"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1455",
"gene_name": "calreticulin",
"omim_gene": [
"109091"
],
"alias_name": [
"Sicca syndrome antigen A (autoantigen Ro; calreticulin)",
"autoantigen Ro"
],
"gene_symbol": "CALR",
"hgnc_symbol": "CALR",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "19:13049392-13055303",
"ensembl_id": "ENSG00000179218"
}
},
"GRch38": {
"90": {
"location": "19:12938578-12944489",
"ensembl_id": "ENSG00000179218"
}
}
},
"hgnc_date_symbol_changed": "1990-09-10"
},
"penetrance": null,
"phenotypes": [
"Thrombocythemia, somatic, 187950",
"Myelofibrosis, somatic, 254450"
],
"transcript": null,
"entity_name": "CALR",
"entity_type": "gene",
"publications": [
"24325356",
"24325359",
"31778606"
],
"confidence_level": "2",
"mode_of_inheritance": "Other",
"mode_of_pathogenicity": ""
},
{
"tags": [
"somatic"
],
"evidence": [
"Expert Review Amber",
"NHS GMS"
],
"gene_data": {
"alias": [
"LNK",
"IDDM20"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:29605",
"gene_name": "SH2B adaptor protein 3",
"omim_gene": [
"605093"
],
"alias_name": [
"lymphocyte adaptor protein"
],
"gene_symbol": "SH2B3",
"hgnc_symbol": "SH2B3",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:111843752-111889427",
"ensembl_id": "ENSG00000111252"
}
},
"GRch38": {
"90": {
"location": "12:111405948-111451623",
"ensembl_id": "ENSG00000111252"
}
}
},
"hgnc_date_symbol_changed": "2006-07-04"
},
"penetrance": null,
"phenotypes": [
"Thrombocythemia, somatic, 187950"
],
"transcript": null,
"entity_name": "SH2B3",
"entity_type": "gene",
"publications": [],
"confidence_level": "2",
"mode_of_inheritance": "Other",
"mode_of_pathogenicity": ""
}
],
"stats": {
"number_of_strs": 0,
"number_of_genes": 5,
"number_of_regions": 0
},
"types": [
{
"name": "GMS Rare Disease",
"slug": "gms-rare-disease",
"description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
},
{
"name": "GMS signed-off",
"slug": "gms-signed-off",
"description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
}
],
"status": "public",
"hash_id": null,
"regions": [],
"version": "1.1",
"disease_group": "Haematological disorders",
"version_created": "2020-09-30T10:12:52.541874Z",
"disease_sub_group": "Haemostasis disorders",
"relevant_disorders": [
"R406"
],
"signed_off": "2020-09-30"
}