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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1896",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1894",
"results": [
{
"created": "2020-03-23T09:58:31.214674+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.33",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: CYBA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYBA",
"entity_type": "gene"
},
{
"created": "2020-03-22T18:47:38.260679+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.309",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KIF5A was added\ngene: KIF5A was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF5A were set to 27463701; 27414745\nPhenotypes for gene: KIF5A were set to Myoclonus, intractable, neonatal MIM#617235\nMode of pathogenicity for gene: KIF5A was set to Other\nReview for gene: KIF5A was set to AMBER\nAdded comment: Three unrelated cases with de novo heterozygous predicted stop-loss variants with read-through of the normal termination codon to create an elongated protein and predicted to be dominant-negative. One of the cases was diagnosed with complex IV deficiency based on a high suspicion of mitochondrial disease given the clinical presentation and borderline findings on electron transport chain studies. There is no evidence that heterozygous variants associated with spastic paraplegia are linked to mitochondrial dysfunction. \nSources: NHS GMS",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2020-03-22T18:24:09.339082+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.308",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MICU2 as ready",
"entity_name": "MICU2",
"entity_type": "gene"
},
{
"created": "2020-03-22T18:24:09.327662+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.308",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: micu2 has been classified as Red List (Low Evidence).",
"entity_name": "MICU2",
"entity_type": "gene"
},
{
"created": "2020-03-22T18:23:21.884214+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.308",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MICU2 was added\ngene: MICU2 was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: MICU2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MICU2 were set to 29053821\nPhenotypes for gene: MICU2 were set to cognitive impairment; spasticity; white matter involvement\nReview for gene: MICU2 was set to RED\nAdded comment: Single multiplex consanguineous family segregating a homozygous truncating variant. Abnormal mitochondrial calcium homeostasis in patient cells. \nSources: NHS GMS",
"entity_name": "MICU2",
"entity_type": "gene"
},
{
"created": "2020-03-22T18:09:52.597367+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.307",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NAXD as ready",
"entity_name": "NAXD",
"entity_type": "gene"
},
{
"created": "2020-03-22T18:09:52.587448+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.307",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: naxd has been classified as Green List (High Evidence).",
"entity_name": "NAXD",
"entity_type": "gene"
},
{
"created": "2020-03-22T18:09:45.157721+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.307",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NAXD as Green List (high evidence)",
"entity_name": "NAXD",
"entity_type": "gene"
},
{
"created": "2020-03-22T18:09:45.148758+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.307",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: naxd has been classified as Green List (High Evidence).",
"entity_name": "NAXD",
"entity_type": "gene"
},
{
"created": "2020-03-22T18:08:55.439482+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.306",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NAXD was added\ngene: NAXD was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: NAXD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAXD were set to 30576410\nPhenotypes for gene: NAXD were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321\nReview for gene: NAXD was set to GREEN\nAdded comment: Six unrelated cases. Patient cells and muscle biopsies also showed impaired mitochondrial function, higher sensitivity to metabolic stress, and decreased mitochondrial reactive oxygen species production. In vitro functional assays also conducted. \nSources: NHS GMS",
"entity_name": "NAXD",
"entity_type": "gene"
},
{
"created": "2020-03-22T17:56:49.530924+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.305",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NDUFAF7 as ready",
"entity_name": "NDUFAF7",
"entity_type": "gene"
},
{
"created": "2020-03-22T17:56:49.521868+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.305",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ndufaf7 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFAF7",
"entity_type": "gene"
},
{
"created": "2020-03-22T17:56:38.005440+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.305",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NDUFAF7 was added\ngene: NDUFAF7 was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: NDUFAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NDUFAF7 were set to 28837730\nPhenotypes for gene: NDUFAF7 were set to Pathologic myopia\nReview for gene: NDUFAF7 was set to RED\nAdded comment: Single family with heterozygous variant. In vitro functional assays conducted are not compelling evidence. \nSources: NHS GMS",
"entity_name": "NDUFAF7",
"entity_type": "gene"
},
{
"created": "2020-03-22T17:46:02.089933+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.304",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NDUFB10 as ready",
"entity_name": "NDUFB10",
"entity_type": "gene"
},
{
"created": "2020-03-22T17:46:02.076599+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.304",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ndufb10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFB10",
"entity_type": "gene"
},
{
"created": "2020-03-22T17:45:32.315253+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.304",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NDUFB10 as Amber List (moderate evidence)",
"entity_name": "NDUFB10",
"entity_type": "gene"
},
{
"created": "2020-03-22T17:45:32.306632+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.304",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ndufb10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFB10",
"entity_type": "gene"
},
{
"created": "2020-03-22T17:44:53.250786+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.303",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NDUFB10 was added\ngene: NDUFB10 was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: NDUFB10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFB10 were set to 28040730; 32025618\nPhenotypes for gene: NDUFB10 were set to fatal infantile lactic acidosis; cardiomyopathy\nReview for gene: NDUFB10 was set to AMBER\nAdded comment: Single compound heterozygote case and assays of respiratory chain enzyme activities and functions in patient tissues/fibroblasts and in vitro functional assays. Plant model system supporting mitochondrial complex I dysfunction. No omim phenotype. \nSources: NHS GMS",
"entity_name": "NDUFB10",
"entity_type": "gene"
},
{
"created": "2020-03-22T16:28:50.471584+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.302",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NNT as Green List (high evidence)",
"entity_name": "NNT",
"entity_type": "gene"
},
{
"created": "2020-03-22T16:28:50.462753+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.302",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nnt has been classified as Green List (High Evidence).",
"entity_name": "NNT",
"entity_type": "gene"
},
{
"created": "2020-03-22T16:28:07.076937+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.301",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NNT was added\ngene: NNT was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NNT were set to 26309815; 22634753\nPhenotypes for gene: NNT were set to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736\nReview for gene: NNT was set to GREEN\nAdded comment: >3 cases reported and a mouse model. A protein of the inner mitochondrial membrane with a key role in mitochondrial redox balance. \nSources: NHS GMS",
"entity_name": "NNT",
"entity_type": "gene"
},
{
"created": "2020-03-22T16:21:17.949800+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.300",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NSUN3 as Amber List (moderate evidence)",
"entity_name": "NSUN3",
"entity_type": "gene"
},
{
"created": "2020-03-22T16:21:17.936811+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.300",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nsun3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NSUN3",
"entity_type": "gene"
},
{
"created": "2020-03-22T16:20:41.802069+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.299",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NSUN3 was added\ngene: NSUN3 was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: NSUN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NSUN3 were set to 27356879\nPhenotypes for gene: NSUN3 were set to combined mitochondrial respiratory chain complex deficiency\nReview for gene: NSUN3 was set to AMBER\nAdded comment: A single compound heterozygous case. Patient-derived fibroblasts exhibited severe defects in mitochondrial translation that can be rescued by exogenous expression of NSun3. In vitro functional assays also conducted. \nSources: NHS GMS",
"entity_name": "NSUN3",
"entity_type": "gene"
},
{
"created": "2020-03-22T16:03:33.614326+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.298",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: OXA1L as Amber List (moderate evidence)",
"entity_name": "OXA1L",
"entity_type": "gene"
},
{
"created": "2020-03-22T16:03:33.603873+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.298",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: oxa1l has been classified as Amber List (Moderate Evidence).",
"entity_name": "OXA1L",
"entity_type": "gene"
},
{
"created": "2020-03-22T16:03:02.723301+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.297",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Single family reported with biochemical and molecular analyses of patient skeletal muscle and fibroblasts. In vitro functional assays in human cell lines and a Drosophila model. Loss of function affects oxidative phosphorylation complexes IV and V. \nSources: NHS GMS; to: Single family reported with biochemical and molecular analyses of patient skeletal muscle and fibroblasts. In vitro functional assays in human cell lines, Drosophila model, and yeast-based assays. Loss of function affects oxidative phosphorylation complexes IV and V. \r\nSources: NHS GMS",
"entity_name": "OXA1L",
"entity_type": "gene"
},
{
"created": "2020-03-22T16:02:34.531499+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.297",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: OXA1L: Changed publications: 30201738, 16435202",
"entity_name": "OXA1L",
"entity_type": "gene"
},
{
"created": "2020-03-22T16:01:40.893356+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.297",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: OXA1L was added\ngene: OXA1L was added to Mitochondrial disease. Sources: 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 encephalopathy; hypotonia; developmental delay\nReview for gene: OXA1L was set to AMBER\nAdded comment: Single family reported with biochemical and molecular analyses of patient skeletal muscle and fibroblasts. In vitro functional assays in human cell lines and a Drosophila model. Loss of function affects oxidative phosphorylation complexes IV and V. \nSources: NHS GMS",
"entity_name": "OXA1L",
"entity_type": "gene"
},
{
"created": "2020-03-22T15:29:09.681396+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.296",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PET117 was added\ngene: PET117 was added to Mitochondrial disease. Sources: 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 Developmental delay\nReview for gene: PET117 was set to RED\nAdded comment: Two siblings with deficiency of complex IV of the respiratory chain and a homozygous variant. Only functional assays conducted were complementation assays in patient fibroblasts. \nSources: NHS GMS",
"entity_name": "PET117",
"entity_type": "gene"
},
{
"created": "2020-03-22T15:08:49.328050+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.295",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PITRM1 as Green List (high evidence)",
"entity_name": "PITRM1",
"entity_type": "gene"
},
{
"created": "2020-03-22T15:08:49.314724+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.295",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pitrm1 has been classified as Green List (High Evidence).",
"entity_name": "PITRM1",
"entity_type": "gene"
},
{
"created": "2020-03-22T15:08:02.471625+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PITRM1 as ready",
"entity_name": "PITRM1",
"entity_type": "gene"
},
{
"created": "2020-03-22T15:08:02.462357+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pitrm1 has been classified as Green List (High Evidence).",
"entity_name": "PITRM1",
"entity_type": "gene"
},
{
"created": "2020-03-22T15:07:57.935876+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PITRM1 as Green List (high evidence)",
"entity_name": "PITRM1",
"entity_type": "gene"
},
{
"created": "2020-03-22T15:07:57.923001+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pitrm1 has been classified as Green List (High Evidence).",
"entity_name": "PITRM1",
"entity_type": "gene"
},
{
"created": "2020-03-22T15:07:45.692628+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PITRM1 was added\ngene: PITRM1 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: PITRM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PITRM1 were set to 26697887; 29764912\nPhenotypes for gene: PITRM1 were set to Cerebellar atrophy; mental retardation; spinocerebellar ataxia; cognitive decline; psychosis\nReview for gene: PITRM1 was set to GREEN\nAdded comment: Three families with two unique variants and in vitro functional assays. Cases and mouse model have spinocerebellar ataxia as a prominent feature of the phenotype. No OMIM phenotype. \nSources: Literature",
"entity_name": "PITRM1",
"entity_type": "gene"
},
{
"created": "2020-03-22T15:02:26.289637+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.294",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: PITRM1: Changed rating: GREEN",
"entity_name": "PITRM1",
"entity_type": "gene"
},
{
"created": "2020-03-22T15:02:12.917848+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.294",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PITRM1 was added\ngene: PITRM1 was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: PITRM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PITRM1 were set to 26697887; 29764912\nPhenotypes for gene: PITRM1 were set to Cerebellar atrophy; mental retardation; spinocerebellar ataxia; cognitive decline; psychosis\nAdded comment: Three families with two unique variants. Mitochondrial dysfunction identified in in vitro functional assays and mouse model. No OMIM phenotype. \nSources: NHS GMS",
"entity_name": "PITRM1",
"entity_type": "gene"
},
{
"created": "2020-03-22T14:41:20.141699+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.293",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PLA2G6 as ready",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2020-03-22T14:41:20.133175+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.293",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pla2g6 has been classified as Green List (High Evidence).",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2020-03-22T14:40:54.569160+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.293",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PLA2G6 as Green List (high evidence)",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2020-03-22T14:40:54.556575+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.293",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pla2g6 has been classified as Green List (High Evidence).",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2020-03-22T14:34:57.838177+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.292",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PLA2G6 was added\ngene: PLA2G6 was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLA2G6 were set to 25348461; 26001724; 26506412; 30528460; 16783378\nPhenotypes for gene: PLA2G6 were set to Infantile neuroaxonal dystrophy 1 MIM#256600; Neurodegeneration with brain iron accumulation 2B\tMIM#610217; Parkinson disease 14, autosomal recessive MIM#612953\nReview for gene: PLA2G6 was set to GREEN\nAdded comment: Findings in a Drosophila/mouse models and patient fibroblasts demonstrated that loss of normal PLA2G6 gene activity leads to lipid peroxidation, mitochondrial dysfunction and subsequent mitochondrial membrane abnormalities. >3 cases reported. \nSources: NHS GMS",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2020-03-22T13:53:07.086422+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.291",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Single case reported with no functional characterisation. Biochemical analyses of heart tissue identified global COX defect. \nSources: NHS GMS; to: Single case reported with no functional characterisation. Biochemical analyses of heart tissue identified global COX defect. No OMIM phenotype.\r\nSources: NHS GMS",
"entity_name": "PTCD1",
"entity_type": "gene"
},
{
"created": "2020-03-22T13:52:26.699234+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.291",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PTCD1 was added\ngene: PTCD1 was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: PTCD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTCD1 were set to 25058219\nPhenotypes for gene: PTCD1 were set to Cardiomyopathy\nReview for gene: PTCD1 was set to RED\nAdded comment: Single case reported with no functional characterisation. Biochemical analyses of heart tissue identified global COX defect. \nSources: NHS GMS",
"entity_name": "PTCD1",
"entity_type": "gene"
},
{
"created": "2020-03-22T12:40:38.211447+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.290",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PTCD3 as Amber List (moderate evidence)",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2020-03-22T12:40:38.202449+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.290",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ptcd3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2020-03-22T12:39:56.316631+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.289",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PTCD3 was added\ngene: PTCD3 was added to Mitochondrial disease. Sources: NHS GMS\nMode of inheritance for gene: PTCD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTCD3 were set to 30607703; 19427859\nPhenotypes for gene: PTCD3 were set to Mental retardation; optic atrophy; Leigh-like syndrome\nReview for gene: PTCD3 was set to AMBER\nAdded comment: One compound heterozygote case and functional assays. Essential subunit of oxidative phosphorylation (OXPHOS) complexes. \nSources: NHS GMS",
"entity_name": "PTCD3",
"entity_type": "gene"
},
{
"created": "2020-03-21T20:57:18.473106+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.288",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: D2HGDH as ready",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2020-03-21T20:57:18.459585+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.288",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: d2hgdh has been classified as Green List (High Evidence).",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2020-03-21T20:57:13.633110+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.288",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: D2HGDH as Green List (high evidence)",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2020-03-21T20:57:13.624848+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.288",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: d2hgdh has been classified as Green List (High Evidence).",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2020-03-21T20:56:41.819787+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.287",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: D2HGDH was added\ngene: D2HGDH was added to Mitochondrial disease. Sources: Literature,NHS GMS\nMode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: D2HGDH were set to 25778941; 31349060; 15609246; 20020533\nPhenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria MIM#600721\nReview for gene: D2HGDH was set to GREEN\nAdded comment: Enzyme catalyses oxidation of D-2HG, which is coupled to the mitochondrial electron transport chain. >3 cases reported. \nSources: Literature, NHS GMS",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2020-03-21T20:43:59.439900+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.286",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: IDH2 as ready",
"entity_name": "IDH2",
"entity_type": "gene"
},
{
"created": "2020-03-21T20:43:59.426883+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.286",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: idh2 has been classified as Green List (High Evidence).",
"entity_name": "IDH2",
"entity_type": "gene"
},
{
"created": "2020-03-21T20:43:53.473482+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.286",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IDH2 as Green List (high evidence)",
"entity_name": "IDH2",
"entity_type": "gene"
},
{
"created": "2020-03-21T20:43:53.464530+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.286",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: idh2 has been classified as Green List (High Evidence).",
"entity_name": "IDH2",
"entity_type": "gene"
},
{
"created": "2020-03-21T20:43:19.021255+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.285",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IDH2 was added\ngene: IDH2 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IDH2 were set to 25778941; 27142242; 20847235; 24049096\nPhenotypes for gene: IDH2 were set to D-2-hydroxyglutaric aciduria 2 MIM#613657\nReview for gene: IDH2 was set to GREEN\nAdded comment: Loss of IDH2 induces mitochondrial dysfunction in a mouse model. 17 cases with a de novo or inherited from a mosaic carrier (R140G, R140Q) have been reported. \nSources: Literature",
"entity_name": "IDH2",
"entity_type": "gene"
},
{
"created": "2020-03-21T20:16:03.648607+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.284",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PANK2 as ready",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2020-03-21T20:16:03.634980+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.284",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pank2 has been classified as Green List (High Evidence).",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2020-03-21T20:15:59.114334+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.284",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PANK2 as Green List (high evidence)",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2020-03-21T20:15:59.105761+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.284",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pank2 has been classified as Green List (High Evidence).",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2020-03-21T19:49:41.877329+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.283",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PANK2 was added\ngene: PANK2 was added to Mitochondrial disease. Sources: Literature,NHS GMS\nMode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PANK2 were set to 25778941; 11479594; 12510040; 28863176\nPhenotypes for gene: PANK2 were set to HARP syndrome MIM#607236; Neurodegeneration with brain iron accumulation 1 MIM#234200\nReview for gene: PANK2 was set to GREEN\nAdded comment: A mitochondrial enzyme, which phosphorylates vitamin B5 in the first reaction of the CoA biosynthetic pathway (a relevant mitochondrial cofactor). >3 cases reported. \nSources: Literature, NHS GMS",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2020-03-21T19:41:30.449179+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.282",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: COASY as ready",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2020-03-21T19:41:30.435232+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.282",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: coasy has been classified as Green List (High Evidence).",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2020-03-21T19:41:11.735531+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.282",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: COASY as Green List (high evidence)",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2020-03-21T19:41:11.721696+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.282",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: coasy has been classified as Green List (High Evidence).",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2020-03-21T19:39:52.216625+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.281",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COASY was added\ngene: COASY was added to Mitochondrial disease. Sources: NHS GMS,Literature\nMode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COASY were set to 25778941; 24360804; 30089828; 28489334\nPhenotypes for gene: COASY were set to Neurodegeneration with brain iron accumulation 6 MIM#615643; Pontocerebellar hypoplasia, type 12 MIM#618266\nReview for gene: COASY was set to GREEN\nAdded comment: A bi-functional mitochondrial enzyme, which catalyzes the final steps of CoA biosynthesis, a relevant mitochondrial cofactor. >3 cases reported. \nSources: NHS GMS, Literature",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2020-03-21T19:27:51.691254+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.280",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PPOX as ready",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2020-03-21T19:27:51.682012+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.280",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ppox has been classified as Green List (High Evidence).",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2020-03-21T19:27:44.165671+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.280",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PPOX as Green List (high evidence)",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2020-03-21T19:27:44.156892+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.280",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ppox has been classified as Green List (High Evidence).",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2020-03-21T19:27:12.449364+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.279",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PPOX was added\ngene: PPOX was added to Mitochondrial disease. Sources: Literature,NHS GMS\nMode of inheritance for gene: PPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PPOX were set to 25778941; 9811936; 12859407; 30476629\nPhenotypes for gene: PPOX were set to Porphyria variegata\tMIM#176200\nReview for gene: PPOX was set to GREEN\nAdded comment: Variegate porphyria is a disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. A defect in a relevant mitochondrial cofactor. >3 cases reported. \nSources: Literature, NHS GMS",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2020-03-21T19:03:13.752491+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.278",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HADHB as ready",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2020-03-21T19:03:13.743115+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.278",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hadhb has been classified as Green List (High Evidence).",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2020-03-21T19:03:03.945169+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.278",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HADHB as Green List (high evidence)",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2020-03-21T19:03:03.931849+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.278",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hadhb has been classified as Green List (High Evidence).",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2020-03-21T19:02:18.893242+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.277",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HADHB was added\ngene: HADHB was added to Mitochondrial disease. Sources: NHS GMS,Literature\nMode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HADHB were set to 25778941; 30682426; 9259266; 29956646\nPhenotypes for gene: HADHB were set to Trifunctional protein deficiency MIM#609015\nReview for gene: HADHB was set to GREEN\nAdded comment: The heterooctameric mitochondrial trifunctional protein (MTP), composed of four α- and β-subunits harbours three enzymes that each perform a different function in mitochondrial fatty acid β-oxidation. MTP deficiency is a defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported. \nSources: NHS GMS, Literature",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:53:25.651800+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.276",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HADHA as ready",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:53:25.642771+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.276",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hadha has been classified as Green List (High Evidence).",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:53:05.087498+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.276",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HADHA as Green List (high evidence)",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:53:05.074057+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.276",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hadha has been classified as Green List (High Evidence).",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:51:04.509486+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.275",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HADHA was added\ngene: HADHA was added to Mitochondrial disease. Sources: NHS GMS,Literature\nMode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HADHA were set to 25778941; 7811722; 29459657\nPhenotypes for gene: HADHA were set to LCHAD deficiency MIM#609016; Trifunctional protein deficiency MIM#609015\nReview for gene: HADHA was set to GREEN\nAdded comment: Long-Chain-3-Hydroxy-Acyl-CoA-Dehydrogenase-Deficiency (LCHADD) is an inherited disorder affecting mitochondrial fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported. Also affects mitochondrial morphology. \nSources: NHS GMS, Literature",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:46:53.988531+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFA4 as Green List (high evidence)",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:46:53.978957+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa4 has been classified as Green List (High Evidence).",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:46:33.906466+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single family and a lot of functional data. Encodes a complex IV subunit.; to: Single family and a lot of functional data. Unpublished data on another family. Encodes a complex IV subunit.",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:46:17.862216+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFA4: Changed rating: GREEN",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:46:10.942140+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFA4 as Green List (high evidence)",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:46:10.933078+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa4 has been classified as Green List (High Evidence).",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:45:39.523651+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single family and a lot of functional data. Encodes a complex IV subunit.; to: Single family and a lot of functional data. Unpublished data on another family. Encodes a complex IV subunit.",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:45:20.267795+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFA4: Changed rating: GREEN",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:43:27.465702+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRPS14 as ready",
"entity_name": "MRPS14",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:43:27.456553+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrps14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRPS14",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:42:59.619292+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MRPS14 as Amber List (moderate evidence)",
"entity_name": "MRPS14",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:42:59.610573+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrps14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRPS14",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:42:40.008874+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MRPS14: Changed rating: AMBER; Changed phenotypes: Combined oxidative phosphorylation deficiency 38, MIM# 618378",
"entity_name": "MRPS14",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:42:25.690388+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MRPS14 as Amber List (moderate evidence)",
"entity_name": "MRPS14",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:42:25.675924+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrps14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRPS14",
"entity_type": "gene"
},
{
"created": "2020-03-21T18:41:55.855201+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MRPS14: Changed rating: AMBER; Changed phenotypes: Combined oxidative phosphorylation deficiency 38, MIM# 618378",
"entity_name": "MRPS14",
"entity_type": "gene"
}
]
}