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"name": "Cytopenia - NOT Fanconi anaemia",
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{
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"Tpp1",
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{
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}
},
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},
"penetrance": null,
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"615688 Polyarteritis nodosa/Sneddon sydrome"
],
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"24552285",
"24552284"
],
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"mode_of_pathogenicity": ""
},
{
"tags": [],
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"North West GLH",
"Wessex and West Midlands GLH",
"Expert Review Green",
"Yorkshire and North East GLH",
"NHS GMS",
"London South GLH"
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"alias": [
"KIAA1074"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:29186",
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"alias_name": null,
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"hgnc_symbol": "ANKRD26",
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}
},
"hgnc_date_symbol_changed": "2004-02-04"
},
"penetrance": null,
"phenotypes": [
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],
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"entity_name": "ANKRD26",
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"20626622"
],
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},
{
"tags": [],
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"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
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],
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"alias_name": null,
"gene_symbol": "CSF3R",
"hgnc_symbol": "CSF3R",
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"82": {
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},
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}
},
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},
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"Neutropenia, severe congenital, 7, autosomal recessive, 617014",
"617014 Neutropenia, severe congenital, 7",
"617014 Neutropenia, severe congenital, 7, autosomal recessive",
"Severe congenital neutropenia"
],
"transcript": null,
"entity_name": "CSF3R",
"entity_type": "gene",
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"12203110",
"19620628"
],
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
],
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"alias": [
"FLJ22170",
"AAF132"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:26169",
"gene_name": "CST telomere replication complex component 1",
"omim_gene": [
"613129"
],
"alias_name": [
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"alpha accessory factor 132",
"conserved telomere capping protein 1"
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"82": {
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},
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}
},
"hgnc_date_symbol_changed": "2011-02-21"
},
"penetrance": null,
"phenotypes": [
"Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita",
"Dyskeratosis Congenita, Recessive",
"Inherited Bone Marrow Failure Syndromes",
"612199 Coats plus syndrome",
"Dyskeratosis congenita"
],
"transcript": null,
"entity_name": "CTC1",
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"22899577",
"22267198",
"22387016"
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"mode_of_pathogenicity": ""
},
{
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"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
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"NPY3R",
"HM89",
"NPYY3R",
"D2S201E",
"fusin",
"HSY3RR",
"NPYR",
"CD184"
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"hgnc_id": "HGNC:2561",
"gene_name": "C-X-C motif chemokine receptor 4",
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"82": {
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},
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"ensembl_id": "ENSG00000121966"
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}
},
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"193670 WHIM syndrome",
"WHIM syndrome, 193670",
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"12692554"
],
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},
{
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"North West GLH",
"Wessex and West Midlands GLH",
"Expert Review Green",
"London South GLH",
"NHS GMS",
"Yorkshire and North East GLH"
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"CYC"
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},
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}
},
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},
"penetrance": null,
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"Thrombocytopenia 4, 612004",
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],
"transcript": null,
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"18345000"
],
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},
{
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"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
],
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"dyskerin",
"NAP57",
"NOLA4",
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},
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}
},
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"305000 Dyskeratosis congenita",
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},
{
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"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
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}
},
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"Bone Marrow Failure",
"617052 Bone marrow failure syndrome 3",
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},
{
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"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
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"HLE"
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"leukocyte elastase",
"medullasin"
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},
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}
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"Neutropenia, cyclic, 162800",
"Neutropenia, severe congenital 1, autosomal dominant 202700",
"202700 Neutropenia, severe congenital 1",
"202700 Neutropenia, severe congenital 1, autosomal dominant",
"Neutropenia, cyclic 162800",
"162800 Cyclic neutropenia",
"162800 Neutropenia, cyclic"
],
"transcript": null,
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"11001877",
"10581030"
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"Yorkshire and North East GLH",
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}
},
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},
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"phenotypes": [
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"Bone marrow failure syndrome 2, 615715"
],
"transcript": null,
"entity_name": "ERCC6L2",
"entity_type": "gene",
"publications": [
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"27185855"
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{
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"North West GLH",
"Wessex and West Midlands GLH",
"Expert Review Green",
"Yorkshire and North East GLH",
"NHS GMS",
"London South GLH"
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},
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"phenotypes": [
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"transcript": null,
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"Yorkshire and North East GLH",
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"Neutropenia, Severe Congenital, 4 Autosomal Dominant",
"612541 Neutropenia, severe congenital 4",
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"Expert Review Green",
"London South GLH",
"North West GLH",
"Yorkshire and North East GLH",
"NHS GMS",
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}
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"phenotypes": [
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"Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367",
"Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835",
"Myelodysplastic syndrome (MDS), Paediatric",
"Anaemia",
"thrombocytopenia"
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"24952648",
"24766296",
"10700180",
"24453067",
"12200364",
"11809723"
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"Yorkshire and North East GLH",
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"Emberger syndrome, 614038 (includes pancytopenia)",
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"610738 Neutropenia, severe congenital 3",
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},
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}
},
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},
{
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"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
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},
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}
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"DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1",
"127550 Dyskeratosis congenita, autosomal dominant 1",
"Dyskeratosis congenita",
"Dyskeratosis Congenita, Autosomal Dominant, 1",
"Inherited Bone Marrow Failure Syndromes"
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"12090986"
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"mode_of_pathogenicity": ""
},
{
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"Yorkshire and North East GLH",
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"TCS1",
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},
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}
},
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},
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"{Dyskeratosis congenita, autosomal dominant 2}, 613989",
"Coronary artery disease",
"{Melanoma, cutaneous malignant, 9}, 615134",
"614742 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1",
"Aplastic Anemia",
"614742 {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}",
"{Leukemia, acute myeloid}, 601626",
"613989 Dyskeratosis congenita",
"{Dyskeratosis congenita, autosomal recessive 4}, 613989"
],
"transcript": null,
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"18460650",
"18042801"
],
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"mode_of_pathogenicity": ""
},
{
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"Wessex and West Midlands GLH",
"North West GLH",
"Yorkshire and North East GLH",
"Expert Review Green",
"NHS GMS",
"London South GLH"
],
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"MPLLG"
],
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],
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"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"
],
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},
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}
},
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},
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"Thrombocythemia 1, 187950"
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"28466964",
"28559357",
"29191945"
],
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"mode_of_pathogenicity": ""
},
{
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"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
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],
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],
"alias_name": null,
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}
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"268130 Revesz syndrome",
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"Dyskeratosis congenita",
"613990 Dyskeratosis congenita, autosomal dominant 3",
"Dyskeratosis congenita, autosomal dominant 3, 613990",
"Revesz syndrome, 268130",
"Inherited Bone Marrow Failure Syndromes",
"Dyskeratosis Congenita, Dominant"
],
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"21536674"
],
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},
{
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"North West GLH",
"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Wessex and West Midlands GLH"
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},
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},
{
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"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
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},
{
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"Yorkshire and North East GLH",
"London South GLH",
"NHS GMS",
"Expert Review Green",
"Wessex and West Midlands GLH"
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}
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"8757563",
"11167787"
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},
{
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}
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"11869681",
"22231303",
"14757742",
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},
{
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},
{
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}
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},
{
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"Yorkshire and North East GLH",
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},
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}
},
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},
{
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"Dfy",
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"omim_gene": [
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},
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}
},
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},
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"phenotypes": [
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"transcript": null,
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},
{
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"North West GLH",
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"Yorkshire and North East GLH",
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},
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}
},
"hgnc_date_symbol_changed": "1990-08-21"
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},
{
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"Expert review Amber",
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"Yorkshire and North East GLH",
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},
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{
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],
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},
{
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},
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"tags": [],
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"Expert review Red",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
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"D6S216E",
"PSMB5i",
"beta5i"
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"hgnc_id": "HGNC:9545",
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"omim_gene": [
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],
"alias_name": null,
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"hgnc_symbol": "PSMB8",
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"GRch37": {
"82": {
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"ensembl_id": "ENSG00000204264"
}
},
"GRch38": {
"90": {
"location": "6:32840717-32844703",
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}
},
"hgnc_date_symbol_changed": "1992-06-25"
},
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"phenotypes": [
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],
"transcript": null,
"entity_name": "PSMB8",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red",
"Expert review Red",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"gene_data": {
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"SH-PTP2",
"SHP-2",
"PTP2C",
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"biotype": "protein_coding",
"hgnc_id": "HGNC:9644",
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"hgnc_symbol": "PTPN11",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "12:112856155-112947717",
"ensembl_id": "ENSG00000179295"
}
},
"GRch38": {
"90": {
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"ensembl_id": "ENSG00000179295"
}
}
},
"hgnc_date_symbol_changed": "1993-03-03"
},
"penetrance": null,
"phenotypes": [
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],
"transcript": null,
"entity_name": "PTPN11",
"entity_type": "gene",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red",
"Expert review Red",
"Wessex and West Midlands GLH",
"North West GLH",
"Yorkshire and North East GLH",
"NHS GMS",
"London South GLH"
],
"gene_data": {
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"BOV-1A",
"BOV-1B",
"BOV-1C",
"RBM8B",
"Y14"
],
"biotype": null,
"hgnc_id": "HGNC:9905",
"gene_name": "RNA binding motif protein 8A",
"omim_gene": [
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],
"alias_name": null,
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"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"
},
"penetrance": null,
"phenotypes": [
"616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related",
"615190 DC type 4 and 5",
"274000 Thrombocytopenia-absent radius syndrome"
],
"transcript": null,
"entity_name": "RBM8A",
"entity_type": "gene",
"publications": [
"22366785",
"24220582",
"28128450",
"17236129"
],
"confidence_level": "1",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red",
"Expert review Red",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"gene_data": {
"alias": [
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],
"biotype": "snRNA",
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"omim_gene": [
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"alias_name": null,
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},
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}
},
"hgnc_date_symbol_changed": "2008-03-12"
},
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],
"transcript": null,
"entity_name": "RNU4ATAC",
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"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
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"NHS GMS",
"Wessex and West Midlands GLH"
],
"gene_data": {
"alias": [
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"MPS1",
"S27"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10416",
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"alias_name": [
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],
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}
},
"GRch38": {
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}
},
"hgnc_date_symbol_changed": "1998-06-05"
},
"penetrance": null,
"phenotypes": [
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"?Diamond-Blackfan anemia 17, 617409"
],
"transcript": null,
"entity_name": "RPS27",
"entity_type": "gene",
"publications": [
"23718193",
"25424902"
],
"confidence_level": "1",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert review Red",
"North West GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH",
"Expert Review Red",
"NHS GMS",
"London South GLH"
],
"gene_data": {
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"GSD1c",
"GSD1d"
],
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},
"GRch38": {
"90": {
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}
},
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},
{
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"North West GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH",
"Expert Review Red",
"NHS GMS",
"London South GLH"
],
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"alias": [
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"HARP"
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"ATP-driven annealing helicase"
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},
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}
},
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"phenotypes": [
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],
"transcript": null,
"entity_name": "SMARCAL1",
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},
{
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"Expert Review Red",
"Expert review Red",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"gene_data": {
"alias": [
"MST1",
"KRS2",
"YSK3"
],
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"hgnc_id": "HGNC:11408",
"gene_name": "serine/threonine kinase 4",
"omim_gene": [
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],
"alias_name": [
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"yeast Ste20-like",
"kinase responsive to stress 2"
],
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"GRch37": {
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},
"GRch38": {
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}
},
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},
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},
{
"tags": [],
"evidence": [
"Expert Review Red",
"NHS GMS",
"Yorkshire and North East GLH"
],
"gene_data": {
"alias": [
"p53",
"LFS1"
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"biotype": "protein_coding",
"hgnc_id": "HGNC:11998",
"gene_name": "tumor protein p53",
"omim_gene": [
"191170"
],
"alias_name": [
"Li-Fraumeni syndrome"
],
"gene_symbol": "TP53",
"hgnc_symbol": "TP53",
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"82": {
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}
},
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"90": {
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}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
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"phenotypes": [
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],
"transcript": null,
"entity_name": "TP53",
"entity_type": "gene",
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},
{
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"Expert Review Red",
"Expert review Red",
"NHS GMS",
"North West GLH",
"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2183",
"gene_name": "vacuolar protein sorting 13 homolog B",
"omim_gene": [
"607817"
],
"alias_name": null,
"gene_symbol": "VPS13B",
"hgnc_symbol": "VPS13B",
"hgnc_release": "2017-11-03",
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"GRch37": {
"82": {
"location": "8:100025494-100889808",
"ensembl_id": "ENSG00000132549"
}
},
"GRch38": {
"90": {
"location": "8:99013266-99877580",
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}
},
"hgnc_date_symbol_changed": "2005-04-08"
},
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"phenotypes": [
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"entity_name": "VPS13B",
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},
{
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"London South GLH",
"Yorkshire and North East GLH",
"Wessex and West Midlands GLH"
],
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"gene_symbol": "VWF",
"hgnc_symbol": "VWF",
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"GRch37": {
"82": {
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},
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}
}
},
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},
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"phenotypes": [
"von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554",
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"entity_name": "VWF",
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}
],
"stats": {
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"number_of_genes": 119,
"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": "1.0",
"disease_group": "",
"version_created": "2019-11-12T16:51:04.167457Z",
"disease_sub_group": "",
"relevant_disorders": [
"R91",
"R258"
],
"signed_off": null
}