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"hgnc_id": "HGNC:2294",
"gene_name": "cytochrome c oxidase subunit 8A",
"omim_gene": [
"123870"
],
"alias_name": null,
"gene_symbol": "COX8A",
"hgnc_symbol": "COX8A",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:63742079-63744015",
"ensembl_id": "ENSG00000176340"
}
},
"GRch38": {
"90": {
"location": "11:63974607-63976543",
"ensembl_id": "ENSG00000176340"
}
}
},
"hgnc_date_symbol_changed": "2004-03-24"
},
"penetrance": null,
"phenotypes": [
"?Mitochondrial complex IV deficiency, 220110"
],
"transcript": null,
"entity_name": "COX8A",
"entity_type": "gene",
"publications": [
"26685157"
],
"confidence_level": "2",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Amber",
"NHS GMS"
],
"gene_data": {
"alias": [
"MGC133129",
"OXA1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8526",
"gene_name": "OXA1L, mitochondrial inner membrane protein",
"omim_gene": [
"601066"
],
"alias_name": null,
"gene_symbol": "OXA1L",
"hgnc_symbol": "OXA1L",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "14:23235731-23241007",
"ensembl_id": "ENSG00000155463"
}
},
"GRch38": {
"90": {
"location": "14:22766522-22773041",
"ensembl_id": "ENSG00000155463"
}
}
},
"hgnc_date_symbol_changed": "1995-09-20"
},
"penetrance": null,
"phenotypes": [
"No OMIM phenotype"
],
"transcript": null,
"entity_name": "OXA1L",
"entity_type": "gene",
"publications": [
"30201738"
],
"confidence_level": "2",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Amber",
"NHS GMS"
],
"gene_data": {
"alias": [
"CSRP2BP"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:40045",
"gene_name": "PET117 homolog",
"omim_gene": [
"614771"
],
"alias_name": null,
"gene_symbol": "PET117",
"hgnc_symbol": "PET117",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "20:18118517-18123813",
"ensembl_id": "ENSG00000232838"
}
},
"GRch38": {
"90": {
"location": "20:18137873-18143169",
"ensembl_id": "ENSG00000232838"
}
}
},
"hgnc_date_symbol_changed": "2012-02-23"
},
"penetrance": null,
"phenotypes": [
"No OMIM phenotype"
],
"transcript": null,
"entity_name": "PET117",
"entity_type": "gene",
"publications": [
"28386624"
],
"confidence_level": "2",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
}
],
"stats": {
"number_of_strs": 0,
"number_of_genes": 40,
"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": "1.2",
"disease_group": "",
"version_created": "2020-02-17T16:06:04.725446Z",
"disease_sub_group": "",
"relevant_disorders": [
"R356"
],
"signed_off": "2020-02-17"
}