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"Senior-Loken syndrome 8, MIM 616307"
],
"transcript": null,
"entity_name": "WDR19",
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},
{
"tags": [],
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"Expert Review Amber"
],
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"alias": [
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],
"biotype": "protein_coding",
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"605421"
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"hgnc_symbol": "ADAMTS9",
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"GRch37": {
"82": {
"location": "3:64501333-64673676",
"ensembl_id": "ENSG00000163638"
}
},
"GRch38": {
"90": {
"location": "3:64515654-64688000",
"ensembl_id": "ENSG00000163638"
}
}
},
"hgnc_date_symbol_changed": "2000-11-27"
},
"penetrance": null,
"phenotypes": [
"Nephronophthisis-Related Ciliopathy (no OMIM number yet)"
],
"transcript": null,
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},
{
"tags": [],
"evidence": [
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"Expert Review Amber"
],
"gene_data": {
"alias": [
"RU2",
"KIAA1154",
"DCDC2A",
"NPHP19"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:18141",
"gene_name": "doublecortin domain containing 2",
"omim_gene": [
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],
"alias_name": null,
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"hgnc_symbol": "DCDC2",
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"GRch37": {
"82": {
"location": "6:24171984-24358280",
"ensembl_id": "ENSG00000146038"
}
},
"GRch38": {
"90": {
"location": "6:24171756-24358052",
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}
},
"hgnc_date_symbol_changed": "2003-05-20"
},
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"phenotypes": [
"Sclerosing cholangitis, neonatal MIM 617394",
"?Deafness, autosomal recessive 66 MIM 610212",
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],
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},
{
"tags": [],
"evidence": [
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"Expert Review Amber"
],
"gene_data": {
"alias": [
"EDJ",
"HEDJ",
"ERdj3"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:14889",
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"omim_gene": [
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],
"alias_name": null,
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"hgnc_symbol": "DNAJB11",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:186285192-186315061",
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}
},
"GRch38": {
"90": {
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}
},
"hgnc_date_symbol_changed": "2001-03-09"
},
"penetrance": null,
"phenotypes": [
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],
"transcript": null,
"entity_name": "DNAJB11",
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},
{
"tags": [],
"evidence": [
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"Expert Review Amber"
],
"gene_data": {
"alias": [
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],
"biotype": "protein_coding",
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"alias_name": [
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"hgnc_symbol": "GLIS2",
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"GRch37": {
"82": {
"location": "16:4364762-4389598",
"ensembl_id": "ENSG00000126603"
}
},
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"90": {
"location": "16:4314761-4339597",
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}
},
"hgnc_date_symbol_changed": "2004-07-16"
},
"penetrance": null,
"phenotypes": [
"Nephronopthisis 7 MIM 611498"
],
"transcript": null,
"entity_name": "GLIS2",
"entity_type": "gene",
"publications": [],
"confidence_level": "2",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Amber"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:18276",
"gene_name": "Sec61 translocon alpha 1 subunit",
"omim_gene": [
"609213"
],
"alias_name": null,
"gene_symbol": "SEC61A1",
"hgnc_symbol": "SEC61A1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:127770484-127790526",
"ensembl_id": "ENSG00000058262"
}
},
"GRch38": {
"90": {
"location": "3:128051641-128071683",
"ensembl_id": "ENSG00000058262"
}
}
},
"hgnc_date_symbol_changed": "2003-10-13"
},
"penetrance": null,
"phenotypes": [
"Familial juvenile Hyperuricemic nephropathy-4 MIM 617056"
],
"transcript": null,
"entity_name": "SEC61A1",
"entity_type": "gene",
"publications": [],
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Expert Review Amber"
],
"gene_data": {
"alias": [
"APP3",
"NPHPL1",
"ICP55"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:28052",
"gene_name": "X-prolyl aminopeptidase 3",
"omim_gene": [
"613553"
],
"alias_name": [
"Intermediate Cleaving Peptidase 55"
],
"gene_symbol": "XPNPEP3",
"hgnc_symbol": "XPNPEP3",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
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"ensembl_id": "ENSG00000196236"
}
},
"GRch38": {
"90": {
"location": "22:40857077-40932815",
"ensembl_id": "ENSG00000196236"
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}
},
"hgnc_date_symbol_changed": "2006-08-02"
},
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"phenotypes": [
"Nephronopthisis-like nephropathy 1 MIM 613159"
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"transcript": null,
"entity_name": "XPNPEP3",
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"publications": [
"20179356"
],
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},
{
"tags": [],
"evidence": [
"Expert Review Amber",
"NHS GMS"
],
"gene_data": {
"alias": [
"KIAA0760",
"OAZ",
"Roaz",
"Ebfaz",
"Zfp104",
"NPHP14",
"JBTS19"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:16762",
"gene_name": "zinc finger protein 423",
"omim_gene": [
"604557"
],
"alias_name": [
"OLF-1/EBF associated zinc finger gene",
" Smad- and Olf-interacting zinc finger protein",
"early B-cell factor associated zinc finger protein"
],
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"hgnc_symbol": "ZNF423",
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"GRch37": {
"82": {
"location": "16:49521435-49891830",
"ensembl_id": "ENSG00000102935"
}
},
"GRch38": {
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}
},
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},
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"phenotypes": [
"Joubert syndrome 19 MIM 614844",
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],
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"22863007"
],
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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],
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"alias": [
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"609799"
],
"alias_name": null,
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"hgnc_symbol": "NEK8",
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"GRch37": {
"82": {
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}
},
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"90": {
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}
}
},
"hgnc_date_symbol_changed": "2004-10-20"
},
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"phenotypes": [
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],
"transcript": null,
"entity_name": "NEK8",
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}
],
"stats": {
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"number_of_genes": 25,
"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": "1.3",
"disease_group": "",
"version_created": "2020-03-04T10:59:45.500766Z",
"disease_sub_group": "",
"relevant_disorders": [
"R202"
],
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}