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"alias": [
"Pegasus",
"FLJ22973"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:14283",
"gene_name": "IKAROS family zinc finger 5",
"omim_gene": [
"606238"
],
"alias_name": null,
"gene_symbol": "IKZF5",
"hgnc_symbol": "IKZF5",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:124750322-124768333",
"ensembl_id": "ENSG00000095574"
}
},
"GRch38": {
"90": {
"location": "10:122990806-123008817",
"ensembl_id": "ENSG00000095574"
}
}
},
"hgnc_date_symbol_changed": "2006-08-25"
},
"penetrance": "unknown",
"phenotypes": [
"Thrombocytopenia (HP:0001873), Reduced platelet alpha granules (HP:0012528)."
],
"transcript": null,
"entity_name": "IKZF5",
"entity_type": "gene",
"publications": [
"1217188"
],
"confidence_level": "0",
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"mode_of_pathogenicity": "Other"
}
],
"stats": {
"number_of_strs": 0,
"number_of_genes": 112,
"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": "2019-11-05T12:06:19.027727Z",
"disease_sub_group": "",
"relevant_disorders": [
"R90"
],
"signed_off": null
}