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[
{
"created": "2024-03-12T17:06:17.038610Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.19",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: COA4 as Red List (low evidence)",
"entity_name": "COA4",
"entity_type": "gene"
},
{
"created": "2024-03-12T17:06:17.031952Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.19",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.",
"entity_name": "COA4",
"entity_type": "gene"
},
{
"created": "2024-03-12T17:06:16.986122Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.19",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: coa4 has been classified as Red List (Low Evidence).",
"entity_name": "COA4",
"entity_type": "gene"
},
{
"created": "2024-03-12T17:05:15.597084Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: COX17 as Red List (low evidence)",
"entity_name": "COX17",
"entity_type": "gene"
},
{
"created": "2024-03-12T17:05:15.581644Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.",
"entity_name": "COX17",
"entity_type": "gene"
},
{
"created": "2024-03-12T17:05:15.538209Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: cox17 has been classified as Red List (Low Evidence).",
"entity_name": "COX17",
"entity_type": "gene"
},
{
"created": "2024-03-12T17:04:47.463720Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: COX18 as Red List (low evidence)",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2024-03-12T17:04:47.460011Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2024-03-12T17:04:47.427873Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: cox18 has been classified as Red List (Low Evidence).",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2024-03-12T17:04:17.697212Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: COX19 as Red List (low evidence)",
"entity_name": "COX19",
"entity_type": "gene"
},
{
"created": "2024-03-12T17:04:17.692348Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.",
"entity_name": "COX19",
"entity_type": "gene"
},
{
"created": "2024-03-12T17:04:17.646545Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: cox19 has been classified as Red List (Low Evidence).",
"entity_name": "COX19",
"entity_type": "gene"
},
{
"created": "2024-03-12T17:03:50.750655Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: COX6B2 as Red List (low evidence)",
"entity_name": "COX6B2",
"entity_type": "gene"
},
{
"created": "2024-03-12T17:03:50.746058Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.",
"entity_name": "COX6B2",
"entity_type": "gene"
},
{
"created": "2024-03-12T17:03:50.696754Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: cox6b2 has been classified as Red List (Low Evidence).",
"entity_name": "COX6B2",
"entity_type": "gene"
},
{
"created": "2024-01-09T12:35:24.962422Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.14",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: COX5A: Added comment: To date, two COX5A variants have been associated with Mitochondrial complex IV deficiency, nuclear type 20 (OMIM:619064) in two unrelated cases (PMID: 28247525;35246835). Analysis of patient fibroblasts has revealed a reduced enzymatic activity and protein levels of complex IV and several of its subunits, plus, lentiviral complementation rescues the complex IV deficiency (PMID: 28247525;35246835).; Changed rating: GREEN",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2024-01-09T11:02:03.388603Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.14",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: COX5A as Amber List (moderate evidence)",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2024-01-09T11:02:03.381556Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.14",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2024-01-09T11:02:03.334229Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.14",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: cox5a has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2024-01-09T11:00:37.532966Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.13",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q4_23_promote_green tag was added to gene: COX5A.",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2024-01-09T10:58:37.988398Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.13",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: COX5A were changed from Pulmonary arterial hypertension, lactic acidemia, and failure to thrive to ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064; Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2024-01-09T10:57:39.165337Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.12",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: COX5A were set to 28247525",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2024-01-09T10:10:27.186660Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: COX11 as Amber List (moderate evidence)",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2024-01-09T10:10:27.181616Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2024-01-09T10:10:27.150006Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: cox11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2024-01-09T10:09:58.253797Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q4_23_promote_green tag was added to gene: COX11.",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2024-01-09T10:05:31.229562Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: COX11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2024-01-09T09:58:51.803138Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene: COX11 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2024-01-09T09:56:47.876528Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.9",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: COX11 were set to 36030551; 38068960",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2024-01-08T17:51:52.726106Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.8",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: COX11 were set to 36030551",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2024-01-08T17:35:58.876984Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: COX11 were set to ",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2024-01-08T17:35:10.701702Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene: COX11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2024-01-08T17:34:47.562132Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.5",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: COX11 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275; Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2023-10-16T20:38:56.750075Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: COX16.",
"entity_name": "COX16",
"entity_type": "gene"
},
{
"created": "2023-10-16T20:38:44.541856Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: COX16",
"entity_name": "COX16",
"entity_type": "gene"
},
{
"created": "2023-04-13T11:03:50.301808Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: COA6 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501 to Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501",
"entity_name": "COA6",
"entity_type": "gene"
},
{
"created": "2023-03-22T14:46:03.388311Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.1",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "panel",
"text": "Panel version 3.0 has been signed off on 2023-03-22",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T14:45:00.951653Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "3.0",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "panel",
"text": "promoted panel to version 3.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-02-01T11:53:05.429632Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "2.5",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: FASTKD2.\nTag Q3_22_NHS_review was removed from gene: FASTKD2.\nTag Q3_22_expert_review was removed from gene: FASTKD2.",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:52:36.553679Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "2.5",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: COX6A2.\nTag Q3_22_NHS_review was removed from gene: COX6A2.",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:51:18.728473Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "2.5",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: FASTKD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:51:18.718762Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "2.5",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: COX6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:51:00.927552Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "2.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source Expert Review Red was added to FASTKD2.\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2023-02-01T11:51:00.844868Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "2.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source Expert Review Green was added to COX6A2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2022-12-21T11:04:49.981949Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "2.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: COX15 were changed from Leigh syndrome due to cytochrome c oxidase deficiency, 256000; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 to Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2022-12-21T10:57:57.812364Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "2.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: COX10 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:40:10.652957Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "2.1",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "panel",
"text": "Panel version 2.0 has been signed off on 2022-11-30",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-30T14:38:53.364879Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "2.0",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "panel",
"text": "promoted panel to version 2.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-13T17:07:12.402306Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.24",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q3_22_expert_review tag was added to gene: FASTKD2.",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2022-08-31T15:20:38.598769Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.24",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_22_NHS_review tag was added to gene: FASTKD2.",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2022-08-31T15:20:28.218439Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.24",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: FASTKD2 were set to 28499982",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2022-08-31T15:20:19.040702Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.23",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_22_rating tag was added to gene: FASTKD2.",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2022-08-31T15:20:08.933360Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.23",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: FASTKD2: Rating: RED; Mode of pathogenicity: None; Publications: 31944455; Phenotypes: Combined oxidative phosphorylation deficiency 44, OMIM:618855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2022-08-31T13:08:07.757007Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.23",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: FASTKD2 were changed from ?Mitochondrial complex IV deficiency, 220110 to Combined oxidative phosphorylation deficiency 44, OMIM:618855",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2022-08-31T08:51:48.092762Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PET117 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 19, OMIM:619063",
"entity_name": "PET117",
"entity_type": "gene"
},
{
"created": "2022-08-30T12:08:43.676561Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: COX6A2 were set to ",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2022-08-30T12:08:25.752972Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.20",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: COX6A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2022-08-30T12:08:05.068605Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.19",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: COX6A2 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2022-08-30T09:30:29.057862Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: COX16: Added comment: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, supporting the Amber rating of this gene on this panel based on current evidence.; Changed rating: AMBER; Set current diagnostic: yes",
"entity_name": "COX16",
"entity_type": "gene"
},
{
"created": "2022-08-30T09:10:25.040053Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: COX6A2: Added comment: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green.; Changed rating: GREEN; Changed publications to: 31155743, 23460811, 32744742; Changed phenotypes to: Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Set current diagnostic: yes",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2022-08-25T10:14:19.702770Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: COX6A2",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2022-08-25T10:07:44.921006Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_22_rating tag was added to gene: COX6A2.\nTag Q3_22_NHS_review tag was added to gene: COX6A2.",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2022-07-29T14:56:03.215853Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: COX16: Rating: ; Mode of pathogenicity: None; Publications: 33169484; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 22, OMIM:619355; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX16",
"entity_type": "gene"
},
{
"created": "2022-07-29T14:52:51.271786Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: COX16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX16",
"entity_type": "gene"
},
{
"created": "2022-07-29T14:52:41.541198Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: COX16 were set to ",
"entity_name": "COX16",
"entity_type": "gene"
},
{
"created": "2022-07-29T14:51:33.667109Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: COX16 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 22, OMIM:619355; Hypertrophic cardiomyopathy; Encephalopathy; Severe fatal lactic acidosis",
"entity_name": "COX16",
"entity_type": "gene"
},
{
"created": "2022-03-03T14:09:44.376484Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.13",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag for-review was removed from gene: SQOR.\nTag Q2_21_rating was removed from gene: SQOR.",
"entity_name": "SQOR",
"entity_type": "gene"
},
{
"created": "2022-03-03T14:09:20.063477Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.13",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: SQOR: The rating of this gene has been updated following NHS Genomic Medicine Service approval",
"entity_name": "SQOR",
"entity_type": "gene"
},
{
"created": "2022-03-03T14:07:59.756575Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.13",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: COX4I1: Comment from NHS Genomic Medicine Service: patients have Leigh syndrome like brain lesions and encephalopathy as well as lactic acidosis and decreased mitochondrial respiratory chain complex IV in tissue.",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2022-03-03T14:06:39.149661Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.13",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag for-review was removed from gene: COX4I1.\nTag Q2_21_rating was removed from gene: COX4I1.",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2022-03-03T14:05:51.045562Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.13",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: COX4I1",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:59:34.692851Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.13",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Green was added to SQOR.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "SQOR",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:59:34.490433Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.13",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Source Expert Review Green was added to COX4I1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2021-08-11T09:16:33.740605Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: COX4I1.",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2021-08-11T09:16:07.115654Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: SQOR.",
"entity_name": "SQOR",
"entity_type": "gene"
},
{
"created": "2021-06-07T11:24:32.849401Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: APOPT1 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2021-04-13T12:49:36.166005Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: COA7 were changed from Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:33:24.813247Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: COX4I1: This gene is associated with a relevant phenotype in OMIM and not Gene2Phenotype. Based on the fact that there are now 2 unrelated cases and functional studies there is enough evidence for this gene to be Green.",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:32:01.529651Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: COX4I1.",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:26:39.693606Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: COX4I1 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 16, OMIM:619060",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2021-02-01T15:26:12.442331Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.9",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: COX4I1 were set to 28766551",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2021-01-27T09:41:11.269617Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.8",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "edited their review of gene: COX4I1: Added comment: GMS to consider whether there is now sufficient evidence for this gene to be green; Changed publications: 28766551, 31290619; Changed phenotypes: OMIM #619060",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2021-01-26T15:13:02.134090Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.8",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: SQOR were set to PMID: 32160317",
"entity_name": "SQOR",
"entity_type": "gene"
},
{
"created": "2021-01-26T15:12:49.258062Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: SQOR.",
"entity_name": "SQOR",
"entity_type": "gene"
},
{
"created": "2021-01-26T15:12:41.233618Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: SQOR as Amber List (moderate evidence)",
"entity_name": "SQOR",
"entity_type": "gene"
},
{
"created": "2021-01-26T15:12:41.227220Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "SQOR",
"entity_type": "gene"
},
{
"created": "2021-01-26T15:12:41.200111Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: sqor has been classified as Amber List (Moderate Evidence).",
"entity_name": "SQOR",
"entity_type": "gene"
},
{
"created": "2021-01-26T15:10:58.167514Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: Not associated with relevant phenotype in OMIM or in Gen2Phen. At least 2 variants reported in unrelated cases, together with supportive functional studies. The authors of PMID 32160317 hypothesise that in their patients, the low residual SQOR activity was likely sufficient to support H2S clearance during stable episodes but was insufficient during acute illness with catabolism resulting in H2S accumulation and toxicity.; to: Not associated with relevant phenotype in OMIM or in Gen2Phen. At least 2 variants reported in unrelated cases, together with supportive functional studies. The authors of PMID 32160317 hypothesise that in their patients, the low residual SQOR activity was likely sufficient to support H2S clearance during stable episodes but was insufficient during acute illness with catabolism resulting in H2S accumulation and toxicity. They conclude that \"SQOR deficiency represents a new, potentially treatable, cause of Leigh disease\".",
"entity_name": "SQOR",
"entity_type": "gene"
},
{
"created": "2021-01-26T15:07:22.785908Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: SQOR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SQOR",
"entity_type": "gene"
},
{
"created": "2021-01-24T16:52:32.140106Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.6",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "gene: SQOR was added\ngene: SQOR was added to Mitochondrial disorder with complex IV deficiency. Sources: Literature\nMode of inheritance for gene: SQOR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SQOR were set to PMID: 32160317\nPhenotypes for gene: SQOR were set to Leigh syndrome\nReview for gene: SQOR was set to AMBER\nAdded comment: Requires review for GMS - should this be considered a primary mitochondrial disorder? \nSources: Literature",
"entity_name": "SQOR",
"entity_type": "gene"
},
{
"created": "2020-11-16T16:19:59.020640Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: COX6B1 were set to ",
"entity_name": "COX6B1",
"entity_type": "gene"
},
{
"created": "2020-11-16T16:18:23.360391Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: COX6B1 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051",
"entity_name": "COX6B1",
"entity_type": "gene"
},
{
"created": "2020-11-16T15:38:10.303745Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SCO1 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048",
"entity_name": "SCO1",
"entity_type": "gene"
},
{
"created": "2020-02-17T16:06:45.287870Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-07-31T16:19:56.957442Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.0",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-07-31T16:18:57.753409Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.43",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from to R356\nPanel types changed to GMS Rare Disease; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-05-23T13:25:13.104728Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.41",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: ?Mitochondrial complex IV deficiency, 220110 has been removed from this gene as COA7 is not associated with this phenotype.",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2019-05-23T13:25:13.082403Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.41",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: COA7 were changed from ?Mitochondrial complex IV deficiency, 220110; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:05:36.645177Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: NDUFA4 as Green List (high evidence)",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:05:36.642580Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:05:36.626388Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.40",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: ndufa4 has been classified as Green List (High Evidence).",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:04:37.569038Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.39",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: COX8A as ready",
"entity_name": "COX8A",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:04:37.566480Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.39",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.",
"entity_name": "COX8A",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:04:37.551571Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.39",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox8a has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX8A",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:04:30.828220Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.39",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Publications for gene: COX8A were set to ",
"entity_name": "COX8A",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:04:03.523848Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.38",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: COX7C as ready",
"entity_name": "COX7C",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:04:03.521206Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.38",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.",
"entity_name": "COX7C",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:04:03.505455Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.38",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox7c has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX7C",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:03:57.567513Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.38",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Publications for gene: COX7C were set to ",
"entity_name": "COX7C",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:03:33.721646Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: COX7A1 as ready",
"entity_name": "COX7A1",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:03:33.718604Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.",
"entity_name": "COX7A1",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:03:33.701829Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox7a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX7A1",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:03:07.906836Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: COX6C as ready",
"entity_name": "COX6C",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:03:07.904429Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.",
"entity_name": "COX6C",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:03:07.890618Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox6c has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX6C",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:02:41.545208Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: COX6B2 as ready",
"entity_name": "COX6B2",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:02:41.542521Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.",
"entity_name": "COX6B2",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:02:41.527463Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox6b2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX6B2",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:02:21.273795Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: COX6A2 as ready",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:02:21.271074Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:02:21.255352Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox6a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:01:56.930655Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: COX5B as ready",
"entity_name": "COX5B",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:01:56.928074Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.",
"entity_name": "COX5B",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:01:56.911461Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox5b has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX5B",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:01:32.598878Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: COX5A as ready",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:01:32.595884Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:01:32.579245Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox5a has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:00:55.368386Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: COX4I2 as ready",
"entity_name": "COX4I2",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:00:55.365772Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.",
"entity_name": "COX4I2",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:00:55.346637Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox4i2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX4I2",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:00:08.828637Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: COX4I1 as ready",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:00:08.825676Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2019-05-10T12:00:08.809926Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox4i1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:59:46.989079Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: COX19 as ready",
"entity_name": "COX19",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:59:46.986206Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.",
"entity_name": "COX19",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:59:46.969212Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox19 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX19",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:59:30.123358Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: COX18 as ready",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:59:30.120567Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:59:30.102784Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox18 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:59:11.510061Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: COX17 as ready",
"entity_name": "COX17",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:59:11.506726Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.",
"entity_name": "COX17",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:59:11.474727Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox17 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX17",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:58:53.285524Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: COX16 as ready",
"entity_name": "COX16",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:58:53.282865Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.",
"entity_name": "COX16",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:58:53.260517Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox16 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX16",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:58:29.131739Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: COX11 as ready",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:58:29.129100Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:58:29.112208Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:54:49.939031Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: COA7 as ready",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:54:49.931981Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: coa7 has been classified as Green List (High Evidence).",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:54:44.791989Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: COA7 as Green List (high evidence)",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:54:44.789379Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:54:44.773731Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.37",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: coa7 has been classified as Green List (High Evidence).",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:54:30.750607Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.36",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Phenotypes for gene: COA7 were changed from ?Mitochondrial complex IV deficiency, 220110 to ?Mitochondrial complex IV deficiency, 220110; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:50:14.506525Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.35",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Publications for gene: COA7 were set to ",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:45:41.918198Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.34",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: COA6 as ready",
"entity_name": "COA6",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:45:41.909957Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.34",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: coa6 has been classified as Green List (High Evidence).",
"entity_name": "COA6",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:45:35.468942Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.34",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: COA6 as Green List (high evidence)",
"entity_name": "COA6",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:45:35.466275Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.34",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Two unrelated cases (with different variants) reported, with supporting functional evidence including a knockout zebrafish model.",
"entity_name": "COA6",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:45:35.451851Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.34",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: coa6 has been classified as Green List (High Evidence).",
"entity_name": "COA6",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:17:41.610714Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.33",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Publications for gene: COA6 were set to ",
"entity_name": "COA6",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:17:09.758513Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.32",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: COA5 as ready",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:17:09.755599Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.32",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:17:09.737559Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.32",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: coa5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:17:04.019725Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.32",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Publications for gene: COA5 were set to ",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:16:35.350274Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: COA4 as ready",
"entity_name": "COA4",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:16:35.347576Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.",
"entity_name": "COA4",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:16:35.326985Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: coa4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COA4",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:16:12.134954Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: COA3 as ready",
"entity_name": "COA3",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:16:12.132006Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.",
"entity_name": "COA3",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:16:12.116113Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: coa3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COA3",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:15:44.132970Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: COA1 as ready",
"entity_name": "COA1",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:15:44.130526Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.",
"entity_name": "COA1",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:15:44.108299Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: coa1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COA1",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:13:18.641249Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: NDUFA4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23746447, 29636225; Phenotypes: Mitochondrial complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:13:18.628616Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: COX8A: Rating: AMBER; Mode of pathogenicity: ; Publications: 26685157; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX8A",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:13:18.616133Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: COX7C: Rating: AMBER; Mode of pathogenicity: ; Publications: 30634555; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "COX7C",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:13:18.603086Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: COX7A1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "COX7A1",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:13:18.590544Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: COX6C: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "COX6C",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:13:18.578157Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: COX6B2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "COX6B2",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:13:18.564268Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: COX6A2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:13:18.551383Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: COX5B: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "COX5B",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:13:18.537998Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: COX5A: Rating: AMBER; Mode of pathogenicity: ; Publications: 28247525; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:13:18.524397Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: COX4I2: Rating: AMBER; Mode of pathogenicity: ; Publications: 19268275; Phenotypes: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; Mode of inheritance: Unknown",
"entity_name": "COX4I2",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:13:18.511715Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: COX4I1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28766551; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:13:18.498829Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: COX19: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "COX19",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:13:18.486232Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: COX18: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:13:18.473193Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: COX17: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "COX17",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:13:18.459795Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: COX16: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "COX16",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:13:18.446181Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: COX11: Rating: AMBER; Mode of pathogenicity: ; Publications: no mito reports found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:13:18.433323Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: COA7: Rating: GREEN; Mode of pathogenicity: ; Publications: 29718187, 27683825; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:13:18.419692Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: COA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 22277967, 24549041, 25959673, 25339201; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COA6",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:13:18.405163Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "edited their review of gene: COA5: Added comment: Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 1 reported family (2 sibs) with functional studies; Changed publications: 21457908; Changed phenotypes: ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:13:18.394510Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: COA4: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "COA4",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:13:18.379811Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "edited their review of gene: COA3: Added comment: Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 1 reported case with functional studies; Changed publications: 25604084; Changed phenotypes: No OMIM phenotype",
"entity_name": "COA3",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:13:18.368878Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: COA1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "COA1",
"entity_type": "gene"
},
{
"created": "2019-05-10T11:13:18.355232Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.31",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: CEP89: Rating: AMBER; Mode of pathogenicity: ; Publications: 23575228; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "CEP89",
"entity_type": "gene"
},
{
"created": "2019-05-07T13:45:12.516889Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: APOPT1.",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2019-05-07T13:40:59.898951Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: APOPT1",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:43:30.915292Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.30",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: NDUFA4 as Amber List (moderate evidence)",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:43:30.909608Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.30",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: ndufa4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:43:21.192225Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.29",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: NDUFA4 as Green List (high evidence)",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:43:21.189586Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.29",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:43:21.164808Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.29",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: ndufa4 has been classified as Green List (High Evidence).",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:42:10.259218Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.28",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: COX8A as Amber List (moderate evidence)",
"entity_name": "COX8A",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:42:10.256268Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.28",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.",
"entity_name": "COX8A",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:42:10.243173Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.28",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox8a has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX8A",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:42:05.073990Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.27",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: COX7C as Amber List (moderate evidence)",
"entity_name": "COX7C",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:42:05.071525Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.27",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.",
"entity_name": "COX7C",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:42:05.049467Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.27",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox7c has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX7C",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:41:39.210210Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.26",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: COX7A1 as Amber List (moderate evidence)",
"entity_name": "COX7A1",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:41:39.207581Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.26",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.",
"entity_name": "COX7A1",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:41:39.184818Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.26",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox7a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX7A1",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:41:33.731734Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.25",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: COX6C as Amber List (moderate evidence)",
"entity_name": "COX6C",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:41:33.728233Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.25",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.",
"entity_name": "COX6C",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:41:33.697288Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.25",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox6c has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX6C",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:41:08.415141Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.24",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: COX6B2 as Amber List (moderate evidence)",
"entity_name": "COX6B2",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:41:08.412749Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.24",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.",
"entity_name": "COX6B2",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:41:08.393481Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.24",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox6b2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX6B2",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:40:59.898916Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.23",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: COX6A2 as Amber List (moderate evidence)",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:40:59.895197Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.23",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:40:59.862113Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.23",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox6a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:40:30.788928Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.22",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: COX5B as Amber List (moderate evidence)",
"entity_name": "COX5B",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:40:30.785950Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.22",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.",
"entity_name": "COX5B",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:40:30.762954Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.22",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox5b has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX5B",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:40:24.380775Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.21",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: COX5A as Amber List (moderate evidence)",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:40:24.378154Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.21",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:40:24.362642Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.21",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox5a has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:40:17.052691Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.20",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: COX4I2 as Amber List (moderate evidence)",
"entity_name": "COX4I2",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:40:17.049246Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.20",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.",
"entity_name": "COX4I2",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:40:17.033141Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.20",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox4i2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX4I2",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:40:09.157058Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.19",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: COX4I1 as Amber List (moderate evidence)",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:40:09.154621Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.19",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:40:09.140817Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.19",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox4i1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:39:37.930424Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.18",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: COX19 as Amber List (moderate evidence)",
"entity_name": "COX19",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:39:37.927884Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.18",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.",
"entity_name": "COX19",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:39:37.906189Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.18",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox19 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX19",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:39:30.047844Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.17",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: COX18 as Amber List (moderate evidence)",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:39:30.030372Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.17",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:39:30.008631Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.17",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox18 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:39:17.951034Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: COX17 as Amber List (moderate evidence)",
"entity_name": "COX17",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:39:17.948212Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.",
"entity_name": "COX17",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:39:17.928003Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.16",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox17 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX17",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:39:03.501412Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.15",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: COX16 as Amber List (moderate evidence)",
"entity_name": "COX16",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:39:03.498512Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.15",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.",
"entity_name": "COX16",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:39:03.479741Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.15",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox16 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX16",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:38:02.252490Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: COX11 as Amber List (moderate evidence)",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:38:02.250142Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:38:02.230620Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.14",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cox11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:37:01.857406Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.13",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: COA7 as Amber List (moderate evidence)",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:37:01.854615Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.13",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:37:01.832793Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.13",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: coa7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:36:05.759630Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.12",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: COA6 as Amber List (moderate evidence)",
"entity_name": "COA6",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:36:05.757122Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.12",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.",
"entity_name": "COA6",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:36:05.744016Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.12",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: coa6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COA6",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:35:53.967428Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.11",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: COA5 as Amber List (moderate evidence)",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:35:53.964719Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.11",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:35:53.950891Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.11",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: coa5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:35:41.570260Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.10",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: COA4 as Amber List (moderate evidence)",
"entity_name": "COA4",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:35:41.567159Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.10",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.",
"entity_name": "COA4",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:35:41.544018Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.10",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: coa4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COA4",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:35:27.907105Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.9",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: COA3 as Amber List (moderate evidence)",
"entity_name": "COA3",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:35:27.904102Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.9",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.",
"entity_name": "COA3",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:35:27.887866Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.9",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: coa3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COA3",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:35:08.354211Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.8",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: COA1 as Amber List (moderate evidence)",
"entity_name": "COA1",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:35:08.350753Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.8",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.",
"entity_name": "COA1",
"entity_type": "gene"
},
{
"created": "2019-03-29T11:35:08.334106Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.8",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: coa1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COA1",
"entity_type": "gene"
},
{
"created": "2019-02-25T17:08:59.818651Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.7",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: PET117 as ready",
"entity_name": "PET117",
"entity_type": "gene"
},
{
"created": "2019-02-25T17:08:59.810507Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.7",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: pet117 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PET117",
"entity_type": "gene"
},
{
"created": "2019-02-25T17:08:53.078172Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.7",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: PET117 as Amber List (moderate evidence)",
"entity_name": "PET117",
"entity_type": "gene"
},
{
"created": "2019-02-25T17:08:53.074838Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.7",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Amber on this panel due to the evidence level; only a single family report has been published.",
"entity_name": "PET117",
"entity_type": "gene"
},
{
"created": "2019-02-25T17:08:53.048952Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.7",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: pet117 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PET117",
"entity_type": "gene"
},
{
"created": "2019-02-25T17:06:32.295773Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.6",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: OXA1L as ready",
"entity_name": "OXA1L",
"entity_type": "gene"
},
{
"created": "2019-02-25T17:06:32.290504Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.6",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: oxa1l has been classified as Amber List (Moderate Evidence).",
"entity_name": "OXA1L",
"entity_type": "gene"
},
{
"created": "2019-02-25T17:06:25.930024Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.6",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: OXA1L as Amber List (moderate evidence)",
"entity_name": "OXA1L",
"entity_type": "gene"
},
{
"created": "2019-02-25T17:06:25.926734Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.6",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Amber on this panel due to the evidence level; only a single family report has been published.",
"entity_name": "OXA1L",
"entity_type": "gene"
},
{
"created": "2019-02-25T17:06:25.905800Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.6",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: oxa1l has been classified as Amber List (Moderate Evidence).",
"entity_name": "OXA1L",
"entity_type": "gene"
},
{
"created": "2019-02-25T17:03:34.524119Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.5",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Marked gene: CEP89 as ready",
"entity_name": "CEP89",
"entity_type": "gene"
},
{
"created": "2019-02-25T17:03:34.515125Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.5",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cep89 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CEP89",
"entity_type": "gene"
},
{
"created": "2019-02-25T17:03:27.070816Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.5",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Classified gene: CEP89 as Amber List (moderate evidence)",
"entity_name": "CEP89",
"entity_type": "gene"
},
{
"created": "2019-02-25T17:03:27.066825Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.5",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Amber on this panel due to the evidence level; only a single rpeort has been published.",
"entity_name": "CEP89",
"entity_type": "gene"
},
{
"created": "2019-02-25T17:03:27.045970Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.5",
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Gene: cep89 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CEP89",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:05.214031Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: TACO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TACO1",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:05.193053Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leigh syndrome, due to COX IV deficiency, 256000, Charcot-Marie-Tooth disease, type 4K, 616684; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:05.179166Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:05.164022Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: SCO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCO1",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:05.149121Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PET117: Rating: GREEN; Mode of pathogenicity: ; Publications: 28386624; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PET117",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:05.132938Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PET100",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:05.117010Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: OXA1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 30201738; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OXA1L",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:05.102437Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: NDUFA4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23746447, 29636225; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:05.086947Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: LRPPRC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leigh syndrome, French-Canadian type, 220111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:05.069920Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: FASTKD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28499982; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:05.055205Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COX8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX8A",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:05.040576Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COX7C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "COX7C",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:05.025482Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COX7B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Linear skin defects with multiple congenital anomalies 2, 300887; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:05.010723Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COX7A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "COX7A1",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:04.994395Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COX6C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "COX6C",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:04.978511Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COX6B2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "COX6B2",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:04.962448Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COX6B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX6B1",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:04.947441Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COX6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:04.932823Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COX6A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, recessive intermediate D, 616039; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX6A1",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:04.916939Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COX5B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "COX5B",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:04.901612Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COX5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28247525; Phenotypes: Pulmonary arterial hypertension, lactic acidemia, and failure to thrive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:04.885627Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COX4I2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19268275; Phenotypes: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX4I2",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:04.870040Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COX4I1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28766551; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:04.855829Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COX20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX20",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:04.841198Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COX19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "COX19",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:04.826165Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COX18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:04.811942Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COX17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "COX17",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:04.797131Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COX16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "COX16",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:04.781624Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COX15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119, Leigh syndrome due to cytochrome c oxidase deficiency, 256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:04.766398Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COX14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:04.751582Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COX11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:04.736704Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COX10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:04.722092Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COA7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:04.707811Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COA6",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:04.692648Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COA5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:04.678479Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "COA4",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:04.663975Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25604084; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COA3",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:04.648468Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: COA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown",
"entity_name": "COA1",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:04.633566Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: CEP89: Rating: GREEN; Mode of pathogenicity: ; Publications: 23575228; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP89",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:34:04.616024Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.3",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: APOPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:29.741532Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: TACO1 was added\ngene: TACO1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TACO1 were set to Mitochondrial complex IV deficiency, 220110",
"entity_name": "TACO1",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:29.688484Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: SURF1 was added\ngene: SURF1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SURF1 were set to Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:29.640776Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: SCO2 was added\ngene: SCO2 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:29.589398Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: SCO1 was added\ngene: SCO1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCO1 were set to Mitochondrial complex IV deficiency, 220110",
"entity_name": "SCO1",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:29.540712Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: PET117 was added\ngene: PET117 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: PET117 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PET117 were set to 28386624\nPhenotypes for gene: PET117 were set to No OMIM phenotype",
"entity_name": "PET117",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:29.496133Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: PET100 was added\ngene: PET100 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PET100 were set to Mitochondrial complex IV deficiency, 220110",
"entity_name": "PET100",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:29.450535Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: OXA1L was added\ngene: OXA1L was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: OXA1L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OXA1L were set to 30201738\nPhenotypes for gene: OXA1L were set to No OMIM phenotype",
"entity_name": "OXA1L",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:29.405316Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: NDUFA4 was added\ngene: NDUFA4 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: NDUFA4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFA4 were set to 23746447, 29636225\nPhenotypes for gene: NDUFA4 were set to No OMIM phenotype",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:29.346738Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: LRPPRC was added\ngene: LRPPRC was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRPPRC were set to Leigh syndrome, French-Canadian type, 220111",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:29.291450Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: FASTKD2 was added\ngene: FASTKD2 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: FASTKD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FASTKD2 were set to 28499982\nPhenotypes for gene: FASTKD2 were set to ?Mitochondrial complex IV deficiency, 220110",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:29.239368Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COX8A was added\ngene: COX8A was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: COX8A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COX8A were set to ?Mitochondrial complex IV deficiency, 220110",
"entity_name": "COX8A",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:29.192216Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COX7C was added\ngene: COX7C was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: COX7C was set to Unknown\nPhenotypes for gene: COX7C were set to No OMIM phenotype",
"entity_name": "COX7C",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:29.143963Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COX7B was added\ngene: COX7B was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: COX7B were set to Linear skin defects with multiple congenital anomalies 2, 300887",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:29.092068Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COX7A1 was added\ngene: COX7A1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: COX7A1 was set to Unknown\nPhenotypes for gene: COX7A1 were set to No OMIM phenotype",
"entity_name": "COX7A1",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:29.046651Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COX6C was added\ngene: COX6C was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: COX6C was set to Unknown\nPhenotypes for gene: COX6C were set to No OMIM phenotype",
"entity_name": "COX6C",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:29.004150Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COX6B2 was added\ngene: COX6B2 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: COX6B2 was set to Unknown\nPhenotypes for gene: COX6B2 were set to No OMIM phenotype",
"entity_name": "COX6B2",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:28.958876Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COX6B1 was added\ngene: COX6B1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: COX6B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COX6B1 were set to Mitochondrial complex IV deficiency, 220110",
"entity_name": "COX6B1",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:28.916795Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COX6A2 was added\ngene: COX6A2 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: COX6A2 was set to Unknown\nPhenotypes for gene: COX6A2 were set to No OMIM phenotype",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:28.872570Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COX6A1 was added\ngene: COX6A1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: COX6A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COX6A1 were set to Charcot-Marie-Tooth disease, recessive intermediate D, 616039",
"entity_name": "COX6A1",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:28.825754Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COX5B was added\ngene: COX5B was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: COX5B was set to Unknown\nPhenotypes for gene: COX5B were set to No OMIM phenotype",
"entity_name": "COX5B",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:28.765114Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COX5A was added\ngene: COX5A was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: COX5A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COX5A were set to 28247525\nPhenotypes for gene: COX5A were set to Pulmonary arterial hypertension, lactic acidemia, and failure to thrive",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:28.719086Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COX4I2 was added\ngene: COX4I2 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COX4I2 were set to 19268275\nPhenotypes for gene: COX4I2 were set to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714",
"entity_name": "COX4I2",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:28.674467Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COX4I1 was added\ngene: COX4I1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: COX4I1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COX4I1 were set to 28766551\nPhenotypes for gene: COX4I1 were set to No OMIM phenotype",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:28.625658Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COX20 was added\ngene: COX20 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COX20 were set to Mitochondrial complex IV deficiency, 220110",
"entity_name": "COX20",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:28.579317Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COX19 was added\ngene: COX19 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: COX19 was set to Unknown\nPhenotypes for gene: COX19 were set to No OMIM phenotype",
"entity_name": "COX19",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:28.533660Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COX18 was added\ngene: COX18 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: COX18 was set to Unknown\nPhenotypes for gene: COX18 were set to No OMIM phenotype",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:28.488977Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COX17 was added\ngene: COX17 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: COX17 was set to Unknown\nPhenotypes for gene: COX17 were set to No OMIM phenotype",
"entity_name": "COX17",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:28.444208Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COX16 was added\ngene: COX16 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: COX16 was set to Unknown\nPhenotypes for gene: COX16 were set to No OMIM phenotype",
"entity_name": "COX16",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:28.396832Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COX15 was added\ngene: COX15 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COX15 were set to Leigh syndrome due to cytochrome c oxidase deficiency, 256000; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:28.347966Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COX14 was added\ngene: COX14 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COX14 were set to ?Mitochondrial complex IV deficiency, 220110",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:28.304125Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COX11 was added\ngene: COX11 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: COX11 was set to Unknown\nPhenotypes for gene: COX11 were set to No OMIM phenotype",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:28.258594Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COX10 was added\ngene: COX10 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COX10 were set to Mitochondrial complex IV deficiency, 220110",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:28.212143Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COA7 was added\ngene: COA7 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COA7 were set to ?Mitochondrial complex IV deficiency, 220110",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:28.162886Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COA6 was added\ngene: COA6 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: COA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COA6 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501",
"entity_name": "COA6",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:28.115208Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COA5 was added\ngene: COA5 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: COA5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COA5 were set to ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:28.070360Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COA4 was added\ngene: COA4 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: COA4 was set to Unknown\nPhenotypes for gene: COA4 were set to No OMIM phenotype",
"entity_name": "COA4",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:28.017693Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COA3 was added\ngene: COA3 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: COA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COA3 were set to 25604084\nPhenotypes for gene: COA3 were set to No OMIM phenotype",
"entity_name": "COA3",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:27.972172Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: COA1 was added\ngene: COA1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: COA1 was set to Unknown\nPhenotypes for gene: COA1 were set to No OMIM phenotype",
"entity_name": "COA1",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:27.922236Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: CEP89 was added\ngene: CEP89 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: CEP89 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP89 were set to 23575228\nPhenotypes for gene: CEP89 were set to No OMIM phenotype",
"entity_name": "CEP89",
"entity_type": "gene"
},
{
"created": "2019-02-01T16:33:27.875816Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: APOPT1 was added\ngene: APOPT1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, 220110",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2018-11-16T10:24:45.929961Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "0.0",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Added Panel Mitochondrial disorder with complex IV deficiency\nSet panel types to: GMS Rare Disease",
"entity_name": null,
"entity_type": null
}
]