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"Amyloidosis, hereditary, transthyretin-related 105210",
"Carpal tunnel syndrome, familial\t115430",
"Dystransthyretinemic hyperthyroxinemia 145680"
],
"transcript": null,
"entity_name": "TTR",
"entity_type": "gene",
"publications": [
"30878017",
"31131842",
"31118583",
"31111153",
"30120737"
],
"confidence_level": "1",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"mode_of_pathogenicity": ""
},
{
"tags": [
"founder-effect"
],
"evidence": [
"Expert Review Red",
"Other"
],
"gene_data": {
"alias": [],
"biotype": null,
"hgnc_id": "HGNC:12309",
"gene_name": "zinc finger HIT-type containing 3",
"omim_gene": [
"604500"
],
"alias_name": null,
"gene_symbol": "ZNHIT3",
"hgnc_symbol": "ZNHIT3",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:34842473-34855154",
"ensembl_id": "ENSG00000108278"
}
},
"GRch38": {
"90": {
"location": "17:36486629-36499310",
"ensembl_id": "ENSG00000273611"
}
}
},
"hgnc_date_symbol_changed": "2005-09-08"
},
"penetrance": "Complete",
"phenotypes": [
"PEHO syndrome, 260565"
],
"transcript": null,
"entity_name": "ZNHIT3",
"entity_type": "gene",
"publications": [
"28335020"
],
"confidence_level": "1",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
}
],
"stats": {
"number_of_strs": 0,
"number_of_genes": 51,
"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": "57ee82ef8f62035c9b2d0487",
"regions": [],
"version": "2.0",
"disease_group": "Cardiovascular disorders",
"version_created": "2019-10-02T14:10:33.689992Z",
"disease_sub_group": "Lymphatic Disorders",
"relevant_disorders": [
"Lymphatic Disorders",
"Meiges disease",
"Meige disease",
"Milroy disease",
"Lymphoedema distichiasis",
"Lipoedema disease",
"R136"
],
"signed_off": null
}