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{
"count": 220493,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=86",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=84",
"results": [
{
"created": "2025-12-16T18:18:55.954367+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMDT1 was added\ngene: SMDT1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: SMDT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMDT1 were set to 37454773\nPhenotypes for gene: SMDT1 were set to Mitochondrial disease, MONDO:0044970, SMDT1-related",
"entity_name": "SMDT1",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:18:39.195711+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3799",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SMDT1 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T18:18:38.590560+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMDT1 was added\ngene: SMDT1 was added to Mendeliome. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: SMDT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMDT1 were set to 37454773\nPhenotypes for gene: SMDT1 were set to Mitochondrial disease, MONDO:0044970, SMDT1-related",
"entity_name": "SMDT1",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:18:14.833966+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMDT1 as ready",
"entity_name": "SMDT1",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:18:14.826927+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smdt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMDT1",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:17:55.590443+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMDT1 as Amber List (moderate evidence)",
"entity_name": "SMDT1",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:17:55.580184+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smdt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMDT1",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:17:22.042901+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMDT1 was added\ngene: SMDT1 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: SMDT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMDT1 were set to 37454773\nPhenotypes for gene: SMDT1 were set to Mitochondrial disease, MONDO:0044970, SMDT1-related\nReview for gene: SMDT1 was set to AMBER\nAdded comment: PMID 37454773 reports 2 individuals from 2 unrelated families with homozygous SMDT1 variants (c.142_145del frameshift; c.179C>T missense) presenting with muscle disease characterized by elevated CK, episodic rhabdomyolysis, progressive limb‑girdle weakness and mild developmental delay. Patient fibroblasts lack EMRE, show disrupted MCU complex and severely impaired mitochondrial Ca2+ uptake; wild‑type SMDT1 complementation restores EMRE expression, MCU assembly and Ca2+ uptake. \nSources: Literature",
"entity_name": "SMDT1",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:10:49.468242+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PREPL as ready",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:10:49.451980+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prepl has been classified as Green List (High Evidence).",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:10:42.789096+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PREPL were changed from Myasthenic syndrome, congenital, 22 MIM#616224; hypotonia-cystinuria syndrome; Disorders of amino acid transport to Myasthenic syndrome, congenital, 22 MIM#616224; hypotonia-cystinuria syndrome",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:10:06.084277+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PREPL were set to 28726805; 27604308; 24610330",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:09:26.891703+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PREPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 34888501; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:08:07.576581+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1291",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene PREPL from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T18:08:07.337669+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PREPL was added\ngene: PREPL was added to Mitochondrial disease. Sources: Expert Review Green,Literature,Victorian Clinical Genetics Services\nMode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PREPL were set to 28726805; 27604308; 24610330\nPhenotypes for gene: PREPL were set to Myasthenic syndrome, congenital, 22 MIM#616224; hypotonia-cystinuria syndrome; Disorders of amino acid transport",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:05:25.174236+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PISD as ready",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:05:25.166533+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pisd has been classified as Green List (High Evidence).",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:05:22.009111+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PISD were set to 31263216; 30858161",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:04:42.204055+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: PISD: Mitochondrial enzyme.",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:04:18.282558+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1289",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene PISD from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T18:04:17.198155+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PISD was added\ngene: PISD was added to Mitochondrial disease. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: PISD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PISD were set to 31263216; 30858161\nPhenotypes for gene: PISD were set to Liberfarb syndrome, MIM# 618889; Intellectual disability; cataracts; retinal degeneration; microcephaly; deafness; short stature; white matter abnormalities",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:01:40.866039+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCK2 as ready",
"entity_name": "PCK2",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:01:40.855516+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pck2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PCK2",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:01:18.499127+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1288",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene PCK2 from panel Hereditary Neuropathy_CMT - isolated",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T18:01:17.413720+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCK2 was added\ngene: PCK2 was added to Mitochondrial disease. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: PCK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCK2 were set to 36845668\nPhenotypes for gene: PCK2 were set to Peripheral neuropathy (MONDO#0005244), PCK2-related",
"entity_name": "PCK2",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:00:40.355453+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFA3 as ready",
"entity_name": "NDUFA3",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:00:40.345011+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFA3",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:59:18.053659+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3798",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene NDUFA3 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T17:59:17.445070+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFA3 was added\ngene: NDUFA3 was added to Mendeliome. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: NDUFA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFA3 were set to 41038977; 39661167\nPhenotypes for gene: NDUFA3 were set to Mitochondrial disease, MONDO:0044970,NDUFA3-related",
"entity_name": "NDUFA3",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:58:55.266606+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFA3 as ready",
"entity_name": "NDUFA3",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:58:55.256392+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFA3",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:58:50.933137+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFA3 as Amber List (moderate evidence)",
"entity_name": "NDUFA3",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:58:50.926135+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFA3",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:57:54.348142+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFA3 was added\ngene: NDUFA3 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: NDUFA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFA3 were set to 41038977; 39661167\nPhenotypes for gene: NDUFA3 were set to Mitochondrial disease, MONDO:0044970,NDUFA3-related\nReview for gene: NDUFA3 was set to AMBER\nAdded comment: PMID 39661167 reports three affected siblings from one unrelated family and PMID 41038977 reports one affected individual from a second unrelated family, both with early‑onset Leigh syndrome due to biallelic loss‑of‑function NDUFA3 variants. Functional studies demonstrate loss of complex I activity and rescue experiments supporting pathogenicity. \nSources: Literature",
"entity_name": "NDUFA3",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:54:51.565378+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTX2 as ready",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:54:51.556683+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtx2 has been classified as Green List (High Evidence).",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:54:45.708877+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTX2 as Green List (high evidence)",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:54:45.699018+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtx2 has been classified as Green List (High Evidence).",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:53:46.825263+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTX2 was added\ngene: MTX2 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTX2 were set to 38250156; 32917887\nPhenotypes for gene: MTX2 were set to Mandibuloacral dysplasia progeroid syndrome, MIM# 619127\nReview for gene: MTX2 was set to GREEN\nAdded comment: PMID 32917887 reports 7 individuals from 5 unrelated families with autosomal recessive loss‑of‑function MTX2 variants presenting with mandibuloacral dysplasia progeroid syndrome (growth retardation, mandibular hypoplasia, acro‑osteolysis, lipodystrophy, severe hypertension, renal disease). PMID 38250156 reports 2 individuals from 2 unrelated families with autosomal recessive loss‑of‑function MTX2 variants presenting with nephrotic proteinuria, multisystem mitochondrial dysfunction (elevated lactate, growth retardation, cardiomyopathy). Loss of MTX2 in patients' primary fibroblasts led to loss of Metaxin-1 (MTX1) and mitochondrial dysfunction, including network fragmentation and oxidative phosphorylation impairment. \nSources: Literature",
"entity_name": "MTX2",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:46:02.930181+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C19orf70.",
"entity_name": "C19orf70",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:45:47.644092+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C19orf70.",
"entity_name": "C19orf70",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:42:11.522902+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IDH3G as ready",
"entity_name": "IDH3G",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:42:11.495202+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: idh3g has been classified as Green List (High Evidence).",
"entity_name": "IDH3G",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:42:00.385940+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: IDH3G: Mitochondrial enzyme.",
"entity_name": "IDH3G",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:41:41.451570+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1283",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene IDH3G from panel Retinitis pigmentosa",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T17:41:41.073077+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IDH3G was added\ngene: IDH3G was added to Mitochondrial disease. Sources: Expert Review Green,Literature\nMode of inheritance for gene: IDH3G was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: IDH3G were set to 40119724\nPhenotypes for gene: IDH3G were set to Retinitis pigmentosa 99, MIM# 301148",
"entity_name": "IDH3G",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:39:49.268779+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HK1 as ready",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:39:49.251011+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hk1 has been classified as Green List (High Evidence).",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:39:40.930128+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HK1 as Green List (high evidence)",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:39:40.901594+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hk1 has been classified as Green List (High Evidence).",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:39:15.493262+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HK1 as Green List (high evidence)",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:39:15.479652+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hk1 has been classified as Green List (High Evidence).",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:38:22.653806+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HK1 was added\ngene: HK1 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HK1 were set to 40469904; 38617198\nPhenotypes for gene: HK1 were set to Neurodevelopmental disorder with visual defects and brain anomalies, MIM#\t618547\nReview for gene: HK1 was set to GREEN\nAdded comment: PMID 38617198 reports 15 individuals from 14 unrelated families with heterozygous de novo missense HK1 variants causing a neurodevelopmental disorder with early‑onset developmental and epileptic encephalopathy, static encephalopathy, movement disorder, retinitis pigmentosa, low CSF glucose and elevated lactate, consistent with mitochondrial dysfunction. PMID 40469904 reports 22 individuals from 19 unrelated families with heterozygous missense HK1 variants causing neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA), featuring intellectual disability, hypotonia, epileptic encephalopathy, visual impairment, Leigh‑like MRI changes and elevated lactate. \nSources: Literature",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:34:29.286006+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPT2 as ready",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:34:29.278589+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpt2 has been classified as Green List (High Evidence).",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:34:22.610510+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: GPT2: Mitochondrial enzyme.",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:33:34.990468+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1280",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene GPT2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T17:33:34.748444+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPT2 was added\ngene: GPT2 was added to Mitochondrial disease. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: GPT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPT2 were set to 27601654; 25758935\nPhenotypes for gene: GPT2 were set to Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:28:46.928463+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAJA3 as ready",
"entity_name": "DNAJA3",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:28:46.918260+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnaja3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNAJA3",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:28:32.554016+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAJA3 as ready",
"entity_name": "DNAJA3",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:28:32.546071+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnaja3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNAJA3",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:28:06.223983+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3797",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene DNAJA3 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T17:28:05.565500+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAJA3 was added\ngene: DNAJA3 was added to Mendeliome. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: DNAJA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAJA3 were set to 34750646; 30770860\nPhenotypes for gene: DNAJA3 were set to Mitochondrial disease, MONDO:0044970, DNAJA3-related",
"entity_name": "DNAJA3",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:27:51.046109+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.508",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene DNAJA3 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T17:27:50.698428+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAJA3 was added\ngene: DNAJA3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: DNAJA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAJA3 were set to 34750646; 30770860\nPhenotypes for gene: DNAJA3 were set to Mitochondrial disease, MONDO:0044970, DNAJA3-related",
"entity_name": "DNAJA3",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:27:35.992565+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAJA3 as Amber List (moderate evidence)",
"entity_name": "DNAJA3",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:27:35.947836+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnaja3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNAJA3",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:26:56.257562+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAJA3 as ready",
"entity_name": "DNAJA3",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:26:56.249648+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnaja3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNAJA3",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:26:32.230649+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAJA3 as Amber List (moderate evidence)",
"entity_name": "DNAJA3",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:26:32.219826+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnaja3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNAJA3",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:25:18.708933+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAJA3 was added\ngene: DNAJA3 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: DNAJA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAJA3 were set to 34750646; 30770860\nPhenotypes for gene: DNAJA3 were set to Mitochondrial disease, MONDO:0044970, DNAJA3-related\nReview for gene: DNAJA3 was set to AMBER\nAdded comment: PMID 30770860 reports 1 individual from a consanguineous family with a homozygous missense variant c.452G>C (p.Arg151Thr) causing developmental delay, intellectual disability, basal‑ganglia abnormalities and peripheral polyneuropathy; PMID 34750646 reports 1 individual from a second unrelated consanguineous family with a homozygous missense c.1282G>A causing childhood‑onset neuroregressive mitochondrial disease with seizures, optic atrophy and basal‑ganglia lesions. Limited functional data. \nSources: Literature",
"entity_name": "DNAJA3",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:18:22.627879+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: NDUFA4.",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:18:12.106354+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: NDUFA4: New HGNC approved name is COXFA4",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:17:35.116752+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFA4 were changed from Leigh syndrome; Complex IV deficiency to Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065; Leigh syndrome",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:16:46.229125+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: NDUFA4: New HGNC approved name is COXFA4",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:16:19.099299+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: NDUFA4.",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:13:51.685623+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP5G3 as ready",
"entity_name": "ATP5G3",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:13:51.675623+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp5g3 has been classified as Green List (High Evidence).",
"entity_name": "ATP5G3",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:12:39.120526+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.130",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene ATP5G3 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T17:12:38.968689+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP5G3 was added\ngene: ATP5G3 was added to Hereditary Spastic Paraplegia. Sources: Literature,Expert Review Green,Literature\nnew gene name tags were added to gene: ATP5G3.\nMode of inheritance for gene: ATP5G3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP5G3 were set to 34636445; 34954817\nPhenotypes for gene: ATP5G3 were set to Dystonia, early-onset, and/or spastic paraplegia, MIM#619681",
"entity_name": "ATP5G3",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:12:35.991935+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP5G3 as ready",
"entity_name": "ATP5G3",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:12:35.979550+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp5g3 has been classified as Green List (High Evidence).",
"entity_name": "ATP5G3",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:11:20.536157+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1276",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene ATP5G3 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T17:11:20.179368+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP5G3 was added\ngene: ATP5G3 was added to Mitochondrial disease. Sources: Expert Review Green,Literature\nnew gene name tags were added to gene: ATP5G3.\nMode of inheritance for gene: ATP5G3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP5G3 were set to 34636445; 34954817\nPhenotypes for gene: ATP5G3 were set to Dystonia, early-onset, and/or spastic paraplegia, MIM#619681",
"entity_name": "ATP5G3",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:11:10.347777+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ATP5G3.",
"entity_name": "ATP5G3",
"entity_type": "gene"
},
{
"created": "2025-12-16T17:10:53.798614+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ATP5G3.",
"entity_name": "ATP5G3",
"entity_type": "gene"
},
{
"created": "2025-12-16T16:24:19.121947+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NHP2 were set to ",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2025-12-16T16:23:50.673316+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NHP2 as Amber List (moderate evidence)",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2025-12-16T16:23:50.666704+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2025-12-16T16:23:22.770335+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 40352450, 40073202; Phenotypes: Dyskeratosis congenita, autosomal recessive 2 MONDO:0013519; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2025-12-16T16:22:06.014959+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NHP2 were set to 18523010; 31985013",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2025-12-16T16:21:45.985886+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NHP2: Added comment: LIMITED by ClinGen Interstitial Lung Disease panel but note two additional families reported in 2025, albeit with limited additional evidence for pathogenicity.; Changed publications: 18523010, 31985013, 40352450, 40073202",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2025-12-16T16:21:02.590822+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NHP2 were set to 18523010; 31985013",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2025-12-16T16:20:31.060273+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: LIMITED by ClinGen Interstitial Lung Disease panel but note two further reports in 2025.; to: LIMITED by ClinGen Interstitial Lung Disease panel but note two further reports in 2025, albeit with limited evidence for pathogenicity presented.",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2025-12-16T16:20:12.593874+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NHP2: Added comment: LIMITED by ClinGen Interstitial Lung Disease panel but note two further reports in 2025.; Changed publications: 18523010, 31985013, 40352450, 40073202",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2025-12-16T16:15:28.946518+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NHP2 as ready",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2025-12-16T16:15:28.935187+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhp2 has been classified as Red List (Low Evidence).",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2025-12-16T16:14:52.685134+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TERT as ready",
"entity_name": "TERT",
"entity_type": "gene"
}
]
}