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                ],
                "gene_symbol": "SURF1",
                "hgnc_symbol": "SURF1",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "9:136218610-136223552",
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                    },
                    "GRch38": {
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                            "location": "9:133351755-133356676",
                            "ensembl_id": "ENSG00000148290"
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                    }
                },
                "hgnc_date_symbol_changed": "1989-11-29"
            },
            "penetrance": null,
            "phenotypes": [
                "Charcot-Marie-Tooth disease, type 4K, 616684",
                "Leigh syndrome, due to COX IV deficiency, 256000"
            ],
            "transcript": null,
            "entity_name": "SURF1",
            "entity_type": "gene",
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "NHS GMS",
                "Expert Review Green"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24316",
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                "alias_name": null,
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                "hgnc_symbol": "TACO1",
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                "ensembl_genes": {
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                            "location": "17:61678231-61685725",
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                    },
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                    }
                },
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            },
            "penetrance": null,
            "phenotypes": [
                "Mitochondrial complex IV deficiency, 220110"
            ],
            "transcript": null,
            "entity_name": "TACO1",
            "entity_type": "gene",
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            "confidence_level": "3",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "gene_data": {
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                    "FLJ14640"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25907",
                "gene_name": "centrosomal protein 89",
                "omim_gene": [
                    "615470"
                ],
                "alias_name": null,
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                "hgnc_symbol": "CEP89",
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                "ensembl_genes": {
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                            "location": "19:33369902-33462897",
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                    },
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                            "location": "19:32875925-32971991",
                            "ensembl_id": "ENSG00000121289"
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                    }
                },
                "hgnc_date_symbol_changed": "2011-05-06"
            },
            "penetrance": null,
            "phenotypes": [
                "No OMIM phenotype"
            ],
            "transcript": null,
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            "entity_type": "gene",
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                "23575228"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
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                "NHS GMS"
            ],
            "gene_data": {
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                    "MITRAC15"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21868",
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                "omim_gene": [
                    "614769"
                ],
                "alias_name": null,
                "gene_symbol": "COA1",
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                "ensembl_genes": {
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                            "location": "7:43648055-43769316",
                            "ensembl_id": "ENSG00000106603"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "7:43608456-43729717",
                            "ensembl_id": "ENSG00000106603"
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                    }
                },
                "hgnc_date_symbol_changed": "2012-06-25"
            },
            "penetrance": null,
            "phenotypes": [
                "No OMIM phenotype"
            ],
            "transcript": null,
            "entity_name": "COA1",
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            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "Unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "HSPC009",
                    "MITRAC12",
                    "COX25"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24990",
                "gene_name": "cytochrome c oxidase assembly factor 3",
                "omim_gene": [
                    "614775"
                ],
                "alias_name": null,
                "gene_symbol": "COA3",
                "hgnc_symbol": "COA3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:40947165-40950722",
                            "ensembl_id": "ENSG00000183978"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "17:42795147-42798704",
                            "ensembl_id": "ENSG00000183978"
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                    }
                },
                "hgnc_date_symbol_changed": "2012-08-07"
            },
            "penetrance": null,
            "phenotypes": [
                "No OMIM phenotype"
            ],
            "transcript": null,
            "entity_name": "COA3",
            "entity_type": "gene",
            "publications": [
                "25604084"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "E2IG2",
                    "CMC3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24604",
                "gene_name": "cytochrome c oxidase assembly factor 4 homolog",
                "omim_gene": [
                    "608016"
                ],
                "alias_name": null,
                "gene_symbol": "COA4",
                "hgnc_symbol": "COA4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:73583712-73588033",
                            "ensembl_id": "ENSG00000181924"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:73872667-73876988",
                            "ensembl_id": "ENSG00000181924"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2012-10-15"
            },
            "penetrance": null,
            "phenotypes": [
                "No OMIM phenotype"
            ],
            "transcript": null,
            "entity_name": "COA4",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "Unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "MGC52110",
                    "FLJ27524",
                    "Pet191"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:33848",
                "gene_name": "cytochrome c oxidase assembly factor 5",
                "omim_gene": [
                    "613920"
                ],
                "alias_name": null,
                "gene_symbol": "COA5",
                "hgnc_symbol": "COA5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:99215773-99224978",
                            "ensembl_id": "ENSG00000183513"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:98599310-98608515",
                            "ensembl_id": "ENSG00000183513"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2011-07-19"
            },
            "penetrance": null,
            "phenotypes": [
                "?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500"
            ],
            "transcript": null,
            "entity_name": "COA5",
            "entity_type": "gene",
            "publications": [
                "21457908"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "COX11P"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2261",
                "gene_name": "COX11, cytochrome c oxidase copper chaperone",
                "omim_gene": [
                    "603648"
                ],
                "alias_name": [
                    "cytochrome c oxidase subunit 11",
                    "cytochrome c oxidase assembly protein COX11"
                ],
                "gene_symbol": "COX11",
                "hgnc_symbol": "COX11",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:53029263-53046146",
                            "ensembl_id": "ENSG00000166260"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "17:54951902-54968785",
                            "ensembl_id": "ENSG00000166260"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-07-03"
            },
            "penetrance": null,
            "phenotypes": [
                "No OMIM phenotype"
            ],
            "transcript": null,
            "entity_name": "COX11",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "Unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20213",
                "gene_name": "COX16, cytochrome c oxidase assembly homolog",
                "omim_gene": null,
                "alias_name": null,
                "gene_symbol": "COX16",
                "hgnc_symbol": "COX16",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:70791798-70826448",
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                    },
                    "GRch38": {
                        "90": {
                            "location": "14:70325081-70359731",
                            "ensembl_id": "ENSG00000133983"
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                    }
                },
                "hgnc_date_symbol_changed": "2008-06-23"
            },
            "penetrance": null,
            "phenotypes": [
                "No OMIM phenotype"
            ],
            "transcript": null,
            "entity_name": "COX16",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "Unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2264",
                "gene_name": "COX17, cytochrome c oxidase copper chaperone",
                "omim_gene": [
                    "604813"
                ],
                "alias_name": null,
                "gene_symbol": "COX17",
                "hgnc_symbol": "COX17",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:119373360-119396301",
                            "ensembl_id": "ENSG00000138495"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "3:119654513-119677454",
                            "ensembl_id": "ENSG00000138495"
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                    }
                },
                "hgnc_date_symbol_changed": "1999-12-14"
            },
            "penetrance": null,
            "phenotypes": [
                "No OMIM phenotype"
            ],
            "transcript": null,
            "entity_name": "COX17",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "Unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "FLJ38991"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26801",
                "gene_name": "COX18, cytochrome c oxidase assembly factor",
                "omim_gene": [
                    "610428"
                ],
                "alias_name": null,
                "gene_symbol": "COX18",
                "hgnc_symbol": "COX18",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:73921797-73935472",
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                    },
                    "GRch38": {
                        "90": {
                            "location": "4:73052362-73069755",
                            "ensembl_id": "ENSG00000163626"
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                    }
                },
                "hgnc_date_symbol_changed": "2006-05-15"
            },
            "penetrance": null,
            "phenotypes": [
                "No OMIM phenotype"
            ],
            "transcript": null,
            "entity_name": "COX18",
            "entity_type": "gene",
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            "confidence_level": "2",
            "mode_of_inheritance": "Unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "MGC104475"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28074",
                "gene_name": "COX19, cytochrome c oxidase assembly factor",
                "omim_gene": [
                    "610429"
                ],
                "alias_name": null,
                "gene_symbol": "COX19",
                "hgnc_symbol": "COX19",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:938415-1015235",
                            "ensembl_id": "ENSG00000240230"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "7:898778-975599",
                            "ensembl_id": "ENSG00000240230"
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                },
                "hgnc_date_symbol_changed": "2006-05-15"
            },
            "penetrance": null,
            "phenotypes": [
                "No OMIM phenotype"
            ],
            "transcript": null,
            "entity_name": "COX19",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "Unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "COX4-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2265",
                "gene_name": "cytochrome c oxidase subunit 4I1",
                "omim_gene": [
                    "123864"
                ],
                "alias_name": null,
                "gene_symbol": "COX4I1",
                "hgnc_symbol": "COX4I1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "16:85832239-85840650",
                            "ensembl_id": "ENSG00000131143"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "16:85798633-85807044",
                            "ensembl_id": "ENSG00000131143"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-12-07"
            },
            "penetrance": null,
            "phenotypes": [
                "No OMIM phenotype"
            ],
            "transcript": null,
            "entity_name": "COX4I1",
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            "publications": [
                "28766551"
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            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "COXIV-2",
                    "COX4B",
                    "dJ857M17.2",
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16232",
                "gene_name": "cytochrome c oxidase subunit 4I2",
                "omim_gene": [
                    "607976"
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                "alias_name": [
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                "hgnc_symbol": "COX4I2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                        "82": {
                            "location": "20:30225691-30232809",
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                    },
                    "GRch38": {
                        "90": {
                            "location": "20:31637888-31645006",
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                    }
                },
                "hgnc_date_symbol_changed": "2001-12-03"
            },
            "penetrance": null,
            "phenotypes": [
                "Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714"
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            "transcript": null,
            "entity_name": "COX4I2",
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            "confidence_level": "2",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
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        },
        {
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                "Expert Review Amber",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2267",
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                    "603773"
                ],
                "alias_name": null,
                "gene_symbol": "COX5A",
                "hgnc_symbol": "COX5A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "15:75212132-75230509",
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                    },
                    "GRch38": {
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                            "location": "15:74919791-74938168",
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                    }
                },
                "hgnc_date_symbol_changed": "1998-12-11"
            },
            "penetrance": null,
            "phenotypes": [
                "Pulmonary arterial hypertension, lactic acidemia, and failure to thrive"
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            "transcript": null,
            "entity_name": "COX5A",
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                "28247525"
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            "confidence_level": "2",
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        },
        {
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                "Expert Review Amber",
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            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2269",
                "gene_name": "cytochrome c oxidase subunit 5B",
                "omim_gene": [
                    "123866"
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                "alias_name": null,
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                "hgnc_symbol": "COX5B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "2:98262503-98264846",
                            "ensembl_id": "ENSG00000135940"
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                    },
                    "GRch38": {
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                            "location": "2:97646040-97648383",
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                },
                "hgnc_date_symbol_changed": "1991-06-04"
            },
            "penetrance": null,
            "phenotypes": [
                "No OMIM phenotype"
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            "transcript": null,
            "entity_name": "COX5B",
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            "mode_of_inheritance": "Unknown",
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        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2279",
                "gene_name": "cytochrome c oxidase subunit 6A2",
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                    "602009"
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                "alias_name": null,
                "gene_symbol": "COX6A2",
                "hgnc_symbol": "COX6A2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "16:31439052-31439967",
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                    },
                    "GRch38": {
                        "90": {
                            "location": "16:31427731-31428428",
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                    }
                },
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            "penetrance": null,
            "phenotypes": [
                "No OMIM phenotype"
            ],
            "transcript": null,
            "entity_name": "COX6A2",
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            "publications": [],
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            "mode_of_inheritance": "Unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "COXVIB2",
                    "FLJ32865",
                    "CT59"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24380",
                "gene_name": "cytochrome c oxidase subunit 6B2",
                "omim_gene": null,
                "alias_name": [
                    "cytochrome c oxidase subunit VIb, testes specific",
                    "cancer/testis antigen 59"
                ],
                "gene_symbol": "COX6B2",
                "hgnc_symbol": "COX6B2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:55860674-55866182",
                            "ensembl_id": "ENSG00000160471"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:55349306-55354814",
                            "ensembl_id": "ENSG00000160471"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-08-11"
            },
            "penetrance": null,
            "phenotypes": [
                "No OMIM phenotype"
            ],
            "transcript": null,
            "entity_name": "COX6B2",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "Unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2285",
                "gene_name": "cytochrome c oxidase subunit 6C",
                "omim_gene": [
                    "124090"
                ],
                "alias_name": null,
                "gene_symbol": "COX6C",
                "hgnc_symbol": "COX6C",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:100885428-100906290",
                            "ensembl_id": "ENSG00000164919"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:99873200-99894062",
                            "ensembl_id": "ENSG00000164919"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-05-08"
            },
            "penetrance": null,
            "phenotypes": [
                "No OMIM phenotype"
            ],
            "transcript": null,
            "entity_name": "COX6C",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "Unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "COX7AH"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2287",
                "gene_name": "cytochrome c oxidase subunit 7A1",
                "omim_gene": [
                    "123995"
                ],
                "alias_name": null,
                "gene_symbol": "COX7A1",
                "hgnc_symbol": "COX7A1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:36641824-36643771",
                            "ensembl_id": "ENSG00000161281"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:36150922-36152869",
                            "ensembl_id": "ENSG00000161281"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-06-11"
            },
            "penetrance": null,
            "phenotypes": [
                "No OMIM phenotype"
            ],
            "transcript": null,
            "entity_name": "COX7A1",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "2",
            "mode_of_inheritance": "Unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2292",
                "gene_name": "cytochrome c oxidase subunit 7C",
                "omim_gene": [
                    "603774"
                ],
                "alias_name": null,
                "gene_symbol": "COX7C",
                "hgnc_symbol": "COX7C",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:85913721-85916779",
                            "ensembl_id": "ENSG00000127184"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:86617904-86620962",
                            "ensembl_id": "ENSG00000127184"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-09-05"
            },
            "penetrance": null,
            "phenotypes": [
                "No OMIM phenotype"
            ],
            "transcript": null,
            "entity_name": "COX7C",
            "entity_type": "gene",
            "publications": [
                "30634555"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "Unknown",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "COX8-2",
                    "COX8L",
                    "VIII-L",
                    "COX",
                    "VIII"
                ],
                "biotype": "protein_coding",
                "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"
}