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{
"count": 220504,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=104",
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"results": [
{
"created": "2025-12-04T09:20:53.577374+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-CO2 as ready",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:20:53.567387+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-co2 has been classified as Green List (High Evidence).",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:20:38.892223+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-CO2 as ready",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:20:38.881819+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-co2 has been classified as Green List (High Evidence).",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:20:19.538427+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-CO2 as ready",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:20:19.531337+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-co2 has been classified as Green List (High Evidence).",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:20:00.787983+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-CO2 as ready",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:20:00.779414+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-co2 has been classified as Green List (High Evidence).",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:19:27.228681+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-CO2 as ready",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:19:27.205239+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-co2 has been classified as Green List (High Evidence).",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:19:13.735622+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-CO2 as ready",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:19:13.727935+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-co2 has been classified as Green List (High Evidence).",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:13:57.770680+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-CO2 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T09:13:57.696128+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-CO2 was added\ngene: MT-CO2 was added to Stroke. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-CO2.\nMode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL\nPublications for gene: MT-CO2 were set to 34325999; 30315213; 28521807; 10205264; 10486321; 11558799; 18245391; 23616164; 31167410; 23965802; 30030519\nPhenotypes for gene: MT-CO2 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:13:57.513559+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-CO2 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T09:13:57.333507+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-CO2 was added\ngene: MT-CO2 was added to Optic Atrophy. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-CO2.\nMode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL\nPublications for gene: MT-CO2 were set to 34325999; 30315213; 28521807; 10205264; 10486321; 11558799; 18245391; 23616164; 31167410; 23965802; 30030519\nPhenotypes for gene: MT-CO2 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:13:19.294242+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.476",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-CO2 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T09:13:18.934800+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-CO2 was added\ngene: MT-CO2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-CO2.\nMode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL\nPublications for gene: MT-CO2 were set to 34325999; 30315213; 28521807; 10205264; 10486321; 11558799; 18245391; 23616164; 31167410; 23965802; 30030519\nPhenotypes for gene: MT-CO2 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:12:38.810570+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-CO2 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T09:12:38.637289+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-CO2 was added\ngene: MT-CO2 was added to Hereditary Neuropathy - complex. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-CO2.\nMode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL\nPublications for gene: MT-CO2 were set to 34325999; 30315213; 28521807; 10205264; 10486321; 11558799; 18245391; 23616164; 31167410; 23965802; 30030519\nPhenotypes for gene: MT-CO2 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:12:23.498629+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.299",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-CO2 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T09:12:23.189465+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-CO2 was added\ngene: MT-CO2 was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-CO2.\nMode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL\nPublications for gene: MT-CO2 were set to 34325999; 30315213; 28521807; 10205264; 10486321; 11558799; 18245391; 23616164; 31167410; 23965802; 30030519\nPhenotypes for gene: MT-CO2 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:11:59.956080+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-CO1 as ready",
"entity_name": "MT-CO1",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:11:59.944207+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-co1 has been classified as Green List (High Evidence).",
"entity_name": "MT-CO1",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:11:48.357224+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-CO1 as ready",
"entity_name": "MT-CO1",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:11:48.349301+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-co1 has been classified as Green List (High Evidence).",
"entity_name": "MT-CO1",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:11:33.688861+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-CO1 as ready",
"entity_name": "MT-CO1",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:11:33.677222+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-co1 has been classified as Green List (High Evidence).",
"entity_name": "MT-CO1",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:11:32.089511+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.298",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-CO2 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T09:11:31.830801+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-CO2 was added\ngene: MT-CO2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-CO2.\nMode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL\nPublications for gene: MT-CO2 were set to 34325999; 30315213; 28521807; 10205264; 10486321; 11558799; 18245391; 23616164; 31167410; 23965802; 30030519\nPhenotypes for gene: MT-CO2 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:11:18.374077+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-CO1 as ready",
"entity_name": "MT-CO1",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:11:18.344322+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-co1 has been classified as Green List (High Evidence).",
"entity_name": "MT-CO1",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:11:07.043606+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-CO1 as ready",
"entity_name": "MT-CO1",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:11:07.035760+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-co1 has been classified as Green List (High Evidence).",
"entity_name": "MT-CO1",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:10:56.493602+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.151",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-CO2 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T09:10:56.299958+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-CO2 was added\ngene: MT-CO2 was added to Ataxia. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-CO2.\nMode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL\nPublications for gene: MT-CO2 were set to 34325999; 30315213; 28521807; 10205264; 10486321; 11558799; 18245391; 23616164; 31167410; 23965802; 30030519\nPhenotypes for gene: MT-CO2 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:09:30.144846+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-CO2 were set to 34325999; 30315213; 28521807",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:08:53.993821+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-CO2: Added comment: DEFINITIVE by ClinGen.\r\n\r\nAt least eight variants (m.7587T>C, m.7671T>A, m.7896G>A, m.7630del, m.8156dup, m.8156del, m.8163A>G, m.8088del) reported in in eight individuals across multiple publications. Single fiber testing further supported the pathogenicity of several of these variants. Age of onset in affected individuals ranged from childhood to the mid-40s. Clinical features included Leigh syndrome, myopathy, muscle wasting, ataxia, epilepsy, stroke-like episodes, global developmental delay, cognitive decline, psychosis, axonal sensorimotor neuropathy, sensorineural hearing loss, retinitis pigmentosa, cataracts, optic atrophy, and left ventricular hypertrophy. Brain imaging was variable and ranged from normal to findings consistent with Leigh syndrome, cerebral and cerebellar atrophy, and agenesis of the corpus callosum. Muscle biopsies showed ragged red fibers, COX-deficient fibers, lipid accumulation, subsarcolemmal accumulation of mitochondria, and complex IV deficiency. Metabolic screening investigations showed elevated lactate. Heteroplasmy levels in affected individuals were highest in muscle when multiple tissues were assessed (56-95% in muscle, undetectable to 67% in blood, 33-49% in buccal, undetectable to 89% in skin fibroblasts, and undetectable to 49% in urine). The mechanism of pathogenicity appears to be loss of function resulting in specific loss of complex IV activity. This gene-disease relationship is also supported by known biochemical function and in vitro functional assays demonstrating altered mitochondrial function as a result of variants in MT-CO2.; Changed publications: 34325999, 30315213, 28521807, 10205264, 10486321, 11558799, 18245391, 23616164, 31167410, 23965802, 30030519",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:01:34.294071+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-CO1 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T09:01:34.235917+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-CO1 was added\ngene: MT-CO1 was added to Stroke. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-CO1.\nMode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL\nPublications for gene: MT-CO1 were set to 30743023; 39460813; 24956508; 10441567; 10980727; 15751226; 16284789; 18977334; 22832341; 18276892; 30030519\nPhenotypes for gene: MT-CO1 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO1-related",
"entity_name": "MT-CO1",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:01:34.039819+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-CO1 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T09:01:33.842564+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-CO1 was added\ngene: MT-CO1 was added to Optic Atrophy. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-CO1.\nMode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL\nPublications for gene: MT-CO1 were set to 30743023; 39460813; 24956508; 10441567; 10980727; 15751226; 16284789; 18977334; 22832341; 18276892; 30030519\nPhenotypes for gene: MT-CO1 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO1-related",
"entity_name": "MT-CO1",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:00:54.800082+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.298",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-CO1 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T09:00:54.514940+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-CO1 was added\ngene: MT-CO1 was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-CO1.\nMode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL\nPublications for gene: MT-CO1 were set to 30743023; 39460813; 24956508; 10441567; 10980727; 15751226; 16284789; 18977334; 22832341; 18276892; 30030519\nPhenotypes for gene: MT-CO1 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO1-related",
"entity_name": "MT-CO1",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:00:03.364441+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.297",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-CO1 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T09:00:03.016700+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-CO1 was added\ngene: MT-CO1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-CO1.\nMode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL\nPublications for gene: MT-CO1 were set to 30743023; 39460813; 24956508; 10441567; 10980727; 15751226; 16284789; 18977334; 22832341; 18276892; 30030519\nPhenotypes for gene: MT-CO1 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO1-related",
"entity_name": "MT-CO1",
"entity_type": "gene"
},
{
"created": "2025-12-04T08:59:27.565600+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.150",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-CO1 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T08:59:27.383018+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-CO1 was added\ngene: MT-CO1 was added to Ataxia. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-CO1.\nMode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL\nPublications for gene: MT-CO1 were set to 30743023; 39460813; 24956508; 10441567; 10980727; 15751226; 16284789; 18977334; 22832341; 18276892; 30030519\nPhenotypes for gene: MT-CO1 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO1-related",
"entity_name": "MT-CO1",
"entity_type": "gene"
},
{
"created": "2025-12-04T08:58:02.567186+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-CO1 were changed from Leber's optic atrophy; Sideroblastic anaemia; Cytochrome c oxidase deficiency; Myoglobinuria to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO1-related",
"entity_name": "MT-CO1",
"entity_type": "gene"
},
{
"created": "2025-12-04T08:57:32.596840+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-CO1 were set to 30743023; 39460813; 24956508",
"entity_name": "MT-CO1",
"entity_type": "gene"
},
{
"created": "2025-12-04T08:56:25.531525+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-CO1: Added comment: DEFINITIVE by ClinGen for mitochondrial disease.\r\n\r\nAt least eight variants (m.5920G>A, m.6328C>T, m.6579G>A, m.6597C>A, m.6698del, m.6708G>A, m.6930G>A, m.7402del) have been reported in eight individuals across multiple publications. Single fiber testing and cybrid analyses supported the pathogenicity of several of these variants. Age of onset in affected individuals ranged from infancy to adolescence. Clinical features included Leigh syndrome, cognitive decline, exercise intolerance, myoglobinuria, stroke-like episodes, myoclonic epilepsy, cerebellar ataxia, muscle weakness and atrophy, cataracts, optic atrophy, sensorineural hearing loss, and left ventricular hypertrophy. Brain imaging was variable and ranged from normal to findings consistent with LSS, cerebellar atrophy, and cortical atrophy. Muscle biopsies showed ragged red fibers, COX-deficient fibers, and complex IV deficiency. Metabolic laboratory investigations revealed normal to elevated lactate and creatine kinase (CK). Heteroplasmy levels in affected individuals were highest in muscle when multiple tissues were assessed (61-95% in muscle, undetectable to 30% in blood, undetectable to 40% in skin fibroblasts, undetectable in hair follicles when tested, and 15-70% in urine).\r\n\r\nThe mechanism of pathogenicity appears to be loss of function resulting in specific loss of complex IV activity. This gene-disease relationship is also supported by known biochemical function, in vitro functional assays, and a mouse model, all of which demonstrate altered mitochondrial function as a result of variants in MT-CO1.; Changed publications: 30743023, 39460813, 24956508, 10441567, 10980727, 15751226, 16284789, 18977334, 22832341, 18276892, 30030519",
"entity_name": "MT-CO1",
"entity_type": "gene"
},
{
"created": "2025-12-04T08:35:44.531415+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HMGCS1 were changed from Rigid spine syndrome, MONDO:0019951, HMGCS1-related to Congenital myopathy 28 with rigid spine, MIM# 621433",
"entity_name": "HMGCS1",
"entity_type": "gene"
},
{
"created": "2025-12-04T08:35:15.605027+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HMGCS1: Changed phenotypes: Congenital myopathy 28 with rigid spine, MIM# 621433",
"entity_name": "HMGCS1",
"entity_type": "gene"
},
{
"created": "2025-12-04T08:34:55.604155+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HMGCS1 were changed from Rigid spine syndrome, MONDO:0019951, HMGCS1-related to Congenital myopathy 28 with rigid spine, MIM# 621433",
"entity_name": "HMGCS1",
"entity_type": "gene"
},
{
"created": "2025-12-04T08:34:32.920728+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HMGCS1: Changed phenotypes: Congenital myopathy 28 with rigid spine, MIM# 621433",
"entity_name": "HMGCS1",
"entity_type": "gene"
},
{
"created": "2025-12-04T02:11:28.214424+11:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.16",
"user_name": "François BOEMER",
"item_type": "entity",
"text": "edited their review of gene: GALK1: Changed phenotypes: Early-onset cataract",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2025-12-04T02:10:00.061430+11:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.16",
"user_name": "François BOEMER",
"item_type": "entity",
"text": "changed review comment from: Development of cataracts is fully preventable if diagnosis is made early and a galactose-restricted diet is implemented and strictly followed. \r\nDisorder is included in the RUSP as a secondary condition.\r\nNBS could be performed by gNBS, or quantifying total Galactose on DBS. Urinary galactitol is elevated in a majority of neonate patients.; to: Development of cataracts is fully preventable if diagnosis is made early and a galactose-restricted diet is implemented and strictly followed. \r\nDisorder is included in the RUSP as a secondary condition. NBS could be performed by gNBS, or by quantifying total Galactose on DBS. Urinary galactitol is elevated in a majority of neonate patients.\r\nGALK1 is curated by ClinGen. Only SNPs variants are described in Clinvar, mainly in the coding or intronic-boundaries regions\r\n",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2025-12-04T01:55:03.228673+11:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.16",
"user_name": "François BOEMER",
"item_type": "entity",
"text": "changed review comment from: Included in the RUSP as a secondary condition.\r\nDevelopment of cataracts appears to be fully preventable if diagnosis is made early and a galactose-restricted diet is implemented and strictly followed. \r\nSources: Expert Review; to: Development of cataracts is fully preventable if diagnosis is made early and a galactose-restricted diet is implemented and strictly followed. \r\nDisorder is included in the RUSP as a secondary condition.\r\nNBS could be performed by gNBS, or quantifying total Galactose on DBS. Urinary galactitol is elevated in a majority of neonate patients.",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2025-12-04T01:52:01.765577+11:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.16",
"user_name": "François BOEMER",
"item_type": "entity",
"text": "edited their review of gene: GALK1: Changed publications: PMID: 32807972",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2025-12-04T01:51:51.975191+11:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.16",
"user_name": "François BOEMER",
"item_type": "entity",
"text": "changed review comment from: Included in the RUSP as a secondary condition.\r\nDevelopment of cataracts appears to be fully preventable if diagnosis is made early and a galactose-restricted diet is implemented and strictly followed. \nSources: Expert Review; to: Included in the RUSP as a secondary condition.\r\nDevelopment of cataracts appears to be fully preventable if diagnosis is made early and a galactose-restricted diet is implemented and strictly followed. \r\nSources: Expert Review",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2025-12-04T01:46:54.298237+11:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.16",
"user_name": "François BOEMER",
"item_type": "entity",
"text": "gene: GALK1 was added\ngene: GALK1 was added to Genomic newborn screening: ICoNS. Sources: Expert Review\nMode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALK1 were set to very early-onset cataract\nPenetrance for gene: GALK1 were set to Complete\nReview for gene: GALK1 was set to GREEN\nAdded comment: Included in the RUSP as a secondary condition.\r\nDevelopment of cataracts appears to be fully preventable if diagnosis is made early and a galactose-restricted diet is implemented and strictly followed. \nSources: Expert Review",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:39:27.146917+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-ATP8 as ready",
"entity_name": "MT-ATP8",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:39:27.137029+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-atp8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MT-ATP8",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:38:53.332283+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-ATP8 as Amber List (moderate evidence)",
"entity_name": "MT-ATP8",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:38:53.322173+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-atp8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MT-ATP8",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:38:33.308328+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-ATP8: Changed publications: 40112238, 24153443, 20207608, 32858252, 33340416, 32858252, 19759059, 22919063",
"entity_name": "MT-ATP8",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:35:27.447810+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-ATP8 as ready",
"entity_name": "MT-ATP8",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:35:27.438012+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-atp8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MT-ATP8",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:35:08.539815+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-ATP8: Changed rating: AMBER",
"entity_name": "MT-ATP8",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:34:57.258148+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "MT-ATP8",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:34:52.110634+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: MT-ATP8: LIMITED by ClinGen. Three variants (m.8403T>C, m.8411A>G, m.8424T>C) have been reported in three individuals. Age of onset varied from birth to the 30s. Clinical features included muscle weakness, wasting, and cramping; dysarthria, headache, periodic paralysis, seizures, mood disorder, neuropathy, pancreatitis, diarrhoea, and weight loss. Brain imaging revealed cerebellar atrophy; lactate was elevated. The gene-disease relationship is also supported by a biochemical function (complex V subunit) shared with other genes associated with primary mitochondrial disease, functional alteration in non-patient cells, and model organisms.",
"entity_name": "MT-ATP8",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:34:40.414691+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-ATP8 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-03T18:34:40.239594+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-ATP8 was added\ngene: MT-ATP8 was added to Hereditary Neuropathy - complex. Sources: Expert Review Amber,Expert list\nmtDNA tags were added to gene: MT-ATP8.\nMode of inheritance for gene gene: MT-ATP8 was set to MITOCHONDRIAL\nPublications for gene: MT-ATP8 were set to 24153443; 20207608; 32858252; 33340416; 32858252; 19759059; 22919063\nPhenotypes for gene: MT-ATP8 were set to Mitochondrial disease MONDO:0044970, MT-ATP8 related",
"entity_name": "MT-ATP8",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:34:24.866438+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.297",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-ATP8 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-03T18:34:24.585816+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-ATP8 was added\ngene: MT-ATP8 was added to Genetic Epilepsy. Sources: Expert Review Amber,Expert list\nmtDNA tags were added to gene: MT-ATP8.\nMode of inheritance for gene gene: MT-ATP8 was set to MITOCHONDRIAL\nPublications for gene: MT-ATP8 were set to 24153443; 20207608; 32858252; 33340416; 32858252; 19759059; 22919063\nPhenotypes for gene: MT-ATP8 were set to Mitochondrial disease MONDO:0044970, MT-ATP8 related",
"entity_name": "MT-ATP8",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:33:01.311058+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-ATP8 were changed from Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency to Mitochondrial disease MONDO:0044970, MT-ATP8 related",
"entity_name": "MT-ATP8",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:32:27.275231+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-ATP8: Changed phenotypes: Mitochondrial disease MONDO:0044970, MT-ATP8 related",
"entity_name": "MT-ATP8",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:31:43.011851+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-ATP8 were set to ",
"entity_name": "MT-ATP8",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:29:49.017684+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-ATP8 as Amber List (moderate evidence)",
"entity_name": "MT-ATP8",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:29:49.010476+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-atp8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MT-ATP8",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:29:15.418838+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "MT-ATP8",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:29:12.431490+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MT-ATP8: Added comment: LIMITED by ClinGen. Three variants (m.8403T>C, m.8411A>G, m.8424T>C) have been reported in three individuals. Age of onset varied from birth to the 30s. Clinical features included muscle weakness, wasting, and cramping; dysarthria, headache, periodic paralysis, seizures, mood disorder, neuropathy, pancreatitis, diarrhoea, and weight loss. Brain imaging revealed cerebellar atrophy; lactate was elevated. The gene-disease relationship is also supported by a biochemical function (complex V subunit) shared with other genes associated with primary mitochondrial disease, functional alteration in non-patient cells, and model organisms.; Changed rating: AMBER; Changed publications: 24153443, 20207608, 32858252, 33340416, 32858252, 19759059, 22919063",
"entity_name": "MT-ATP8",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:24:32.410663+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-ATP6 as ready",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:24:32.396678+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-atp6 has been classified as Green List (High Evidence).",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:24:21.232811+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-ATP6 as ready",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:24:21.222320+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-atp6 has been classified as Green List (High Evidence).",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:24:08.485581+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-ATP6 as ready",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:24:08.472680+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-atp6 has been classified as Green List (High Evidence).",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:23:47.343612+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-ATP6 as ready",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:23:47.332701+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-atp6 has been classified as Green List (High Evidence).",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:22:32.925235+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-ATP6 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-03T18:22:32.788201+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-ATP6 was added\ngene: MT-ATP6 was added to Retinitis pigmentosa. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-ATP6.\nMode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL\nPublications for gene: MT-ATP6 were set to 40112238\nPhenotypes for gene: MT-ATP6 were set to Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:22:30.710651+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.475",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-ATP6 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-03T18:22:30.345942+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-ATP6 was added\ngene: MT-ATP6 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-ATP6.\nMode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL\nPublications for gene: MT-ATP6 were set to 40112238\nPhenotypes for gene: MT-ATP6 were set to Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:21:48.973510+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.296",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-ATP6 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-03T18:21:48.799524+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-ATP6 was added\ngene: MT-ATP6 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-ATP6.\nMode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL\nPublications for gene: MT-ATP6 were set to 40112238\nPhenotypes for gene: MT-ATP6 were set to Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:21:11.784722+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.149",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-ATP6 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-03T18:21:11.549838+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-ATP6 was added\ngene: MT-ATP6 was added to Ataxia. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-ATP6.\nMode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL\nPublications for gene: MT-ATP6 were set to 40112238\nPhenotypes for gene: MT-ATP6 were set to Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:16:14.893218+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FH as ready",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:16:14.882188+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fh has been classified as Green List (High Evidence).",
"entity_name": "FH",
"entity_type": "gene"
}
]
}