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"GRch37": {
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"ensembl_id": "ENSG00000182759"
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},
"GRch38": {
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}
}
},
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},
"penetrance": null,
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"transcript": null,
"entity_name": "MAFA",
"entity_type": "gene",
"publications": [],
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"mode_of_inheritance": "",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Red",
"Radboud University Medical Center, Nijmegen"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:10485",
"gene_name": "ryanodine receptor 3",
"omim_gene": [
"180903"
],
"alias_name": null,
"gene_symbol": "RYR3",
"hgnc_symbol": "RYR3",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
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"82": {
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"ensembl_id": "ENSG00000198838"
}
},
"GRch38": {
"90": {
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"ensembl_id": "ENSG00000198838"
}
}
},
"hgnc_date_symbol_changed": "1993-05-12"
},
"penetrance": "Complete",
"phenotypes": [
"No OMIM phenotypeEpileptic encephalopathy (Appenzeller (2014) Am J Hum Genet 95, 360)Hyperinsulinism (Proverbio (2013) PLoS One 8, e68740)Schizophrenia (Fromer (2014) Nature 506, 179)Lennox-Gastaut syndrome (Appenzeller (2014) Am J Hum Genet 95, 360)"
],
"transcript": null,
"entity_name": "RYR3",
"entity_type": "gene",
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"confidence_level": "1",
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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"Expert Review Red",
"Expert Review"
],
"gene_data": {
"alias": [
"MGC27034",
"TRM10"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:28403",
"gene_name": "tRNA methyltransferase 10A",
"omim_gene": [
"616013"
],
"alias_name": null,
"gene_symbol": "TRMT10A",
"hgnc_symbol": "TRMT10A",
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"ensembl_genes": {
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"ensembl_id": "ENSG00000145331"
}
},
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}
}
},
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},
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"entity_name": "TRMT10A",
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],
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"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
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],
"gene_data": {
"alias": [
"ARA267",
"FLJ22263",
"KMT3B"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:14234",
"gene_name": "nuclear receptor binding SET domain protein 1",
"omim_gene": [
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],
"alias_name": null,
"gene_symbol": "NSD1",
"hgnc_symbol": "NSD1",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
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"location": "5:176560026-176727216",
"ensembl_id": "ENSG00000165671"
}
},
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}
},
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},
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"Sotos syndrome (OMIM#117550)"
],
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],
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"mode_of_pathogenicity": null
},
{
"tags": [],
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"Expert list"
],
"gene_data": {
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],
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"hgnc_id": "HGNC:12518",
"gene_name": "uncoupling protein 2",
"omim_gene": [
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],
"alias_name": null,
"gene_symbol": "UCP2",
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"ensembl_genes": {
"GRch37": {
"82": {
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}
},
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}
}
},
"hgnc_date_symbol_changed": "1997-07-11"
},
"penetrance": null,
"phenotypes": [
"Hyperinsulinism"
],
"transcript": null,
"entity_name": "UCP2",
"entity_type": "gene",
"publications": [
"19065272"
],
"confidence_level": "0",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": null
}
],
"stats": {
"number_of_strs": 0,
"number_of_genes": 21,
"number_of_regions": 0
},
"types": [
{
"name": "Rare Disease 100K",
"slug": "rare-disease-100k",
"description": "Rare Disease 100K"
},
{
"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 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": "553f9781bb5a1616e5ed45f4",
"regions": [],
"version": "2.3",
"disease_group": "Endocrine disorders",
"version_created": "2020-02-25T09:38:27.174650Z",
"disease_sub_group": "Disorders of unusual phenotypes",
"relevant_disorders": [
"Hyperinsulinism",
"R144"
],
"signed_off": "2020-02-25"
}