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{
"count": 220504,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=103",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=101",
"results": [
{
"created": "2025-12-04T17:21:54.255686+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.91",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RAX as Amber List (moderate evidence)",
"entity_name": "RAX",
"entity_type": "gene"
},
{
"created": "2025-12-04T17:21:54.248627+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.91",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rax has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAX",
"entity_type": "gene"
},
{
"created": "2025-12-04T17:21:49.096763+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.90",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RAX was added\ngene: RAX was added to Pituitary hormone deficiency. Sources: Literature\nMode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAX were set to 30811539, 40321348\nPhenotypes for gene: RAX were set to Microphthalmia, syndromic 16, MIM#611038\nReview for gene: RAX was set to AMBER\nAdded comment: Established association with bilateral microphthalmia or anophthalmia.\r\n\r\n2 cases reported with congenital hypopituitarism.\r\n\r\nRAX is a paired-type homeoprotein that plays a critical role in eye and forebrain development of vertebrate species. RAX knockout mice have anophthalmia, cleft palate, and an abnormal hypothalamus and display perinatal lethality \nSources: Literature",
"entity_name": "RAX",
"entity_type": "gene"
},
{
"created": "2025-12-04T17:12:20.571781+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.89",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: EIF2S3 as ready",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2025-12-04T17:12:20.561336+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.89",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: eif2s3 has been classified as Green List (High Evidence).",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2025-12-04T17:11:34.293393+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.89",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene EIF2S3 from panel Intellectual disability syndromic and non-syndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T17:11:34.232337+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.89",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: EIF2S3 was added\ngene: EIF2S3 was added to Pituitary hormone deficiency. Sources: Expert Review Green,Genetic Health Queensland\nMode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: EIF2S3 were set to 23063529; 27333055; 28055140; 32799315\nPhenotypes for gene: EIF2S3 were set to MEHMO syndrome, MIM# 300148",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2025-12-04T16:53:18.148753+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.27",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene CUL4B from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T16:34:08.898596+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.88",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: POLR3B as ready",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2025-12-04T16:34:08.890757+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.88",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: polr3b has been classified as Green List (High Evidence).",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2025-12-04T16:33:58.086486+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.88",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene POLR3B from panel Differences of Sex Development",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T16:33:58.010626+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.88",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: POLR3B was added\ngene: POLR3B was added to Pituitary hormone deficiency. Sources: Expert Review Green,Literature\nMode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLR3B were set to 27512013; 23355746; 22036171; 22036172; 25339210; 33005949; 22855961\nPhenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism; OMIM #614381",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2025-12-04T16:30:23.756962+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.87",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: POLR3A: Added comment: ClinGen Definitive\r\nPOLR3A variants associated with tremor-ataxia with central hypomyelination (TACH), leukodystrophy with oligodontia (LO), and hypomyelination, hypodontia and hypogonadotropic hypogonadism (4H).; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2025-12-04T16:28:47.800486+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.87",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: POLR3A as ready",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2025-12-04T16:28:47.790542+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.87",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: polr3a has been classified as Green List (High Evidence).",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2025-12-04T16:28:44.535981+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.87",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: POLR3A-related disorder MONDO:0700276",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2025-12-04T16:28:44.515870+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.87",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: POLR3A were changed from Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (607694) to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (607694)",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2025-12-04T16:28:32.433339+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.86",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: POLR3A as Green List (high evidence)",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2025-12-04T16:28:32.425691+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.86",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: polr3a has been classified as Green List (High Evidence).",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2025-12-04T16:28:16.627028+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.85",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene POLR3A from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T16:25:58.803095+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.84",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ESRP2 as Green List (high evidence)",
"entity_name": "ESRP2",
"entity_type": "gene"
},
{
"created": "2025-12-04T16:25:58.795812+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.84",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: esrp2 has been classified as Green List (High Evidence).",
"entity_name": "ESRP2",
"entity_type": "gene"
},
{
"created": "2025-12-04T16:24:24.991651+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.83",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: WDR11 as ready",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2025-12-04T16:24:24.981077+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.83",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: wdr11 has been classified as Green List (High Evidence).",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2025-12-04T16:24:20.268413+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.83",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: WDR11 as Green List (high evidence)",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2025-12-04T16:24:20.261535+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.83",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: wdr11 has been classified as Green List (High Evidence).",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2025-12-04T16:24:11.473733+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.82",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene WDR11 from panel Primary Ovarian Insufficiency_Premature Ovarian Failure",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T15:33:05.378997+11:00",
"panel_name": "Hypophosphataemia or rickets",
"panel_id": 122,
"panel_version": "0.51",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Panel name changed from Hypophosphataemia and rickets to Hypophosphataemia or rickets",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T15:29:20.249387+11:00",
"panel_name": "Hyperparathyroidism",
"panel_id": 4526,
"panel_version": "0.0",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added Panel Hyperparathyroidism",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T15:29:14.602889+11:00",
"panel_name": "Familial hypocalciuric hypercalcaemia",
"panel_id": 4525,
"panel_version": "0.0",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added Panel Familial hypocalciuric hypercalcaemia",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T15:28:38.128631+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.0",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added Panel Adrenal insufficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T15:28:33.177614+11:00",
"panel_name": "Congenital adrenal hyperplasia",
"panel_id": 4522,
"panel_version": "0.0",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added Panel Congenital adrenal hyperplasia",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T15:28:24.750215+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.0",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added Panel Hypogonadotropic hypogonadism",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T13:57:27.791018+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-ND3 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T13:57:27.730978+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-ND3 was added\ngene: MT-ND3 was added to Stroke. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-ND3.\nMode of inheritance for gene gene: MT-ND3 was set to MITOCHONDRIAL\nPublications for gene: MT-ND3 were set to 1928099; 14705112; 14764913; 17152068; 20202874; 25118196; 25384404; 11456298; 19458970; 30199507; 29237403\nPhenotypes for gene: MT-ND3 were set to Mitochondrial disease (MONDO:0044970), MT-ND3-related",
"entity_name": "MT-ND3",
"entity_type": "gene"
},
{
"created": "2025-12-04T13:57:27.514585+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-ND3 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T13:57:27.321792+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-ND3 was added\ngene: MT-ND3 was added to Optic Atrophy. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-ND3.\nMode of inheritance for gene gene: MT-ND3 was set to MITOCHONDRIAL\nPublications for gene: MT-ND3 were set to 1928099; 14705112; 14764913; 17152068; 20202874; 25118196; 25384404; 11456298; 19458970; 30199507; 29237403\nPhenotypes for gene: MT-ND3 were set to Mitochondrial disease (MONDO:0044970), MT-ND3-related",
"entity_name": "MT-ND3",
"entity_type": "gene"
},
{
"created": "2025-12-04T13:56:49.462597+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.301",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-ND3 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T13:56:49.188641+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-ND3 was added\ngene: MT-ND3 was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-ND3.\nMode of inheritance for gene gene: MT-ND3 was set to MITOCHONDRIAL\nPublications for gene: MT-ND3 were set to 1928099; 14705112; 14764913; 17152068; 20202874; 25118196; 25384404; 11456298; 19458970; 30199507; 29237403\nPhenotypes for gene: MT-ND3 were set to Mitochondrial disease (MONDO:0044970), MT-ND3-related",
"entity_name": "MT-ND3",
"entity_type": "gene"
},
{
"created": "2025-12-04T13:56:00.142784+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-ND3 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T13:55:59.878936+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-ND3 was added\ngene: MT-ND3 was added to Dystonia - complex. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-ND3.\nMode of inheritance for gene gene: MT-ND3 was set to MITOCHONDRIAL\nPublications for gene: MT-ND3 were set to 1928099; 14705112; 14764913; 17152068; 20202874; 25118196; 25384404; 11456298; 19458970; 30199507; 29237403\nPhenotypes for gene: MT-ND3 were set to Mitochondrial disease (MONDO:0044970), MT-ND3-related",
"entity_name": "MT-ND3",
"entity_type": "gene"
},
{
"created": "2025-12-04T13:53:58.078400+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-ND2 as ready",
"entity_name": "MT-ND2",
"entity_type": "gene"
},
{
"created": "2025-12-04T13:53:58.071391+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-nd2 has been classified as Green List (High Evidence).",
"entity_name": "MT-ND2",
"entity_type": "gene"
},
{
"created": "2025-12-04T13:53:47.683783+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-ND2 as ready",
"entity_name": "MT-ND2",
"entity_type": "gene"
},
{
"created": "2025-12-04T13:53:47.676681+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-nd2 has been classified as Green List (High Evidence).",
"entity_name": "MT-ND2",
"entity_type": "gene"
},
{
"created": "2025-12-04T13:52:59.282555+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.112",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-ND2 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T13:52:59.061790+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-ND2 was added\ngene: MT-ND2 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-ND2.\nMode of inheritance for gene gene: MT-ND2 was set to MITOCHONDRIAL\nPublications for gene: MT-ND2 were set to 26258512; 16738010; 15781840; 12192017\nPhenotypes for gene: MT-ND2 were set to Mitochondrial disease (MONDO:0044970), MT-ND2-related",
"entity_name": "MT-ND2",
"entity_type": "gene"
},
{
"created": "2025-12-04T13:52:49.123042+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag mtDNA tag was added to gene: MT-ND2.",
"entity_name": "MT-ND2",
"entity_type": "gene"
},
{
"created": "2025-12-04T13:52:18.276277+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-ND2 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T13:52:18.202956+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-ND2 was added\ngene: MT-ND2 was added to Congenital ophthalmoplegia. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-ND2.\nMode of inheritance for gene gene: MT-ND2 was set to MITOCHONDRIAL\nPublications for gene: MT-ND2 were set to 26258512; 16738010; 15781840; 12192017\nPhenotypes for gene: MT-ND2 were set to Mitochondrial disease (MONDO:0044970), MT-ND2-related",
"entity_name": "MT-ND2",
"entity_type": "gene"
},
{
"created": "2025-12-04T13:51:15.850579+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-ND1 as ready",
"entity_name": "MT-ND1",
"entity_type": "gene"
},
{
"created": "2025-12-04T13:51:15.843305+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-nd1 has been classified as Green List (High Evidence).",
"entity_name": "MT-ND1",
"entity_type": "gene"
},
{
"created": "2025-12-04T13:51:03.565597+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-ND1 as ready",
"entity_name": "MT-ND1",
"entity_type": "gene"
},
{
"created": "2025-12-04T13:51:03.556411+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-nd1 has been classified as Green List (High Evidence).",
"entity_name": "MT-ND1",
"entity_type": "gene"
},
{
"created": "2025-12-04T13:49:20.434477+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-ND1 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T13:49:20.370762+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-ND1 was added\ngene: MT-ND1 was added to Stroke. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-ND1.\nMode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL\nPublications for gene: MT-ND1 were set to 39147111; 36717040; 34656796\nPhenotypes for gene: MT-ND1 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-ND1-related",
"entity_name": "MT-ND1",
"entity_type": "gene"
},
{
"created": "2025-12-04T13:49:20.159033+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-ND1 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T13:49:19.886605+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-ND1 was added\ngene: MT-ND1 was added to Optic Atrophy. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-ND1.\nMode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL\nPublications for gene: MT-ND1 were set to 39147111; 36717040; 34656796\nPhenotypes for gene: MT-ND1 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-ND1-related",
"entity_name": "MT-ND1",
"entity_type": "gene"
},
{
"created": "2025-12-04T13:48:00.242697+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: MT-ND1: DEFINITIVE by ClinGen.\r\n\r\nThere were four recurrent variants (m.3697G>A, m.3890G>A, m.3635G>A, m.3902_3908delinsGCAAGGT). Affected individuals present with a broad phenotypic spectrum of disease including Leber Hereditary Optic Neuropathy (LHON), mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), Leigh syndrome, and exercise intolerance phenotypes. The age of onset is also highly variable, ranging from infantile to adult. Muscle biopsies variably reveal focal subsarcolemmal accumulation of mitochondria, ragged red fibers, and isolated complex I deficiency.",
"entity_name": "MT-ND1",
"entity_type": "gene"
},
{
"created": "2025-12-04T10:53:28.029829+11:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.16",
"user_name": "Jorune Balciuniene",
"item_type": "entity",
"text": "reviewed gene: F9: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301668, 32809627; Phenotypes: Hemophilia B; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:59:20.632531+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-CYB as ready",
"entity_name": "MT-CYB",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:59:20.618986+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-cyb has been classified as Green List (High Evidence).",
"entity_name": "MT-CYB",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:59:10.426154+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-CYB as ready",
"entity_name": "MT-CYB",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:59:10.415368+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-cyb has been classified as Green List (High Evidence).",
"entity_name": "MT-CYB",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:58:57.977390+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-CYB as ready",
"entity_name": "MT-CYB",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:58:57.965697+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-cyb has been classified as Green List (High Evidence).",
"entity_name": "MT-CYB",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:57:30.276660+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-CO3 as ready",
"entity_name": "MT-CO3",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:57:30.269317+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-co3 has been classified as Green List (High Evidence).",
"entity_name": "MT-CO3",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:57:27.338087+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-CO3 were set to 11063732; 33863631; 34054915; 8630495; 9634511; 12414820; 21163656; 16288875; 8630495; 9634511",
"entity_name": "MT-CO3",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:57:15.803356+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag mtDNA tag was added to gene: MT-CO3.",
"entity_name": "MT-CO3",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:56:52.794636+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-CO3 were set to 11063732; 33863631; 34054915; 8630495; 9634511; 12414820; 21163656; 16288875; 8630495; 9634511",
"entity_name": "MT-CO3",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:56:21.009924+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag mtDNA tag was added to gene: MT-CO3.",
"entity_name": "MT-CO3",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:56:06.074350+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-CO3 as ready",
"entity_name": "MT-CO3",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:56:06.063627+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-co3 has been classified as Green List (High Evidence).",
"entity_name": "MT-CO3",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:55:54.680650+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-CO3 were set to 11063732; 33863631; 34054915; 8630495; 9634511; 12414820; 21163656; 16288875; 8630495; 9634511",
"entity_name": "MT-CO3",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:55:31.876853+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag mtDNA tag was added to gene: MT-CO3.",
"entity_name": "MT-CO3",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:55:16.025181+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-CO3 as ready",
"entity_name": "MT-CO3",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:55:16.014737+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-co3 has been classified as Green List (High Evidence).",
"entity_name": "MT-CO3",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:55:13.128295+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-CO3 were set to 20525945; 11063732; 33863631; 34054915; 8630495; 9634511; 12414820; 21163656; 16288875; 8630495; 9634511",
"entity_name": "MT-CO3",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:55:07.051089+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-CO3 were set to 11063732; 33863631; 34054915; 8630495; 9634511; 12414820; 21163656; 16288875; 8630495; 9634511",
"entity_name": "MT-CO3",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:55:02.052169+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.300",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-CYB from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T09:55:01.352774+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-CYB was added\ngene: MT-CYB was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-CYB.\nMode of inheritance for gene gene: MT-CYB was set to MITOCHONDRIAL\nPublications for gene: MT-CYB were set to 39858655; 34804306; 26937408\nPhenotypes for gene: MT-CYB were set to mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CYB-related",
"entity_name": "MT-CYB",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:54:11.441242+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.299",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-CYB from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T09:54:11.270898+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-CYB was added\ngene: MT-CYB was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-CYB.\nMode of inheritance for gene gene: MT-CYB was set to MITOCHONDRIAL\nPublications for gene: MT-CYB were set to 39858655; 34804306; 26937408\nPhenotypes for gene: MT-CYB were set to mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CYB-related",
"entity_name": "MT-CYB",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:53:41.565220+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag mtDNA tag was added to gene: MT-CO3.",
"entity_name": "MT-CO3",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:53:34.616978+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.152",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-CYB from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T09:53:34.386832+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-CYB was added\ngene: MT-CYB was added to Ataxia. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-CYB.\nMode of inheritance for gene gene: MT-CYB was set to MITOCHONDRIAL\nPublications for gene: MT-CYB were set to 39858655; 34804306; 26937408\nPhenotypes for gene: MT-CYB were set to mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CYB-related",
"entity_name": "MT-CYB",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:52:23.592633+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: MT-CYB: DEFINITIVE by ClinGen.\r\n\r\nClinical presentation is with progressive exercise intolerance as well as progressive multisystem disease manifestations (encephalopathy, headaches, ataxia, hearing loss, cataracts, retinal dystrophy, ophthalmoplegia, epilepsy, nausea, vomiting, Wolff-Parkinson-White arrhythmia). Affected individuals typically have elevated lactate levels with muscle biopsies revealing an isolated complex III deficiency and ragged red fibers.",
"entity_name": "MT-CYB",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:43:08.815882+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-CO3 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T09:43:08.749662+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-CO3 was added\ngene: MT-CO3 was added to Stroke. Sources: Expert Review Green,Literature\nMode of inheritance for gene gene: MT-CO3 was set to MITOCHONDRIAL\nPublications for gene: MT-CO3 were set to 11063732; 33863631; 34054915; 8630495; 9634511; 12414820; 21163656; 16288875; 8630495; 9634511\nPhenotypes for gene: MT-CO3 were set to Mitochondrial disease MONDO:0044970, MT-CO3-related",
"entity_name": "MT-CO3",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:43:08.548599+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-CO3 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T09:43:08.314720+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-CO3 was added\ngene: MT-CO3 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review Green,Literature\nMode of inheritance for gene gene: MT-CO3 was set to MITOCHONDRIAL\nPublications for gene: MT-CO3 were set to 11063732; 33863631; 34054915; 8630495; 9634511; 12414820; 21163656; 16288875; 8630495; 9634511\nPhenotypes for gene: MT-CO3 were set to Mitochondrial disease MONDO:0044970, MT-CO3-related",
"entity_name": "MT-CO3",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:42:51.957807+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3738",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-CO3 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-04T09:42:51.367632+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-CO3 was added\ngene: MT-CO3 was added to Mendeliome. Sources: Expert Review Green,Literature\nMode of inheritance for gene gene: MT-CO3 was set to MITOCHONDRIAL\nPublications for gene: MT-CO3 were set to 11063732; 33863631; 34054915; 8630495; 9634511; 12414820; 21163656; 16288875; 8630495; 9634511\nPhenotypes for gene: MT-CO3 were set to Mitochondrial disease MONDO:0044970, MT-CO3-related",
"entity_name": "MT-CO3",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:42:00.067993+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-CO3 were changed from Leigh syndrome; Leigh-like syndrome; Myopathy; Encephalopathy and myopathy to Mitochondrial disease MONDO:0044970, MT-CO3-related",
"entity_name": "MT-CO3",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:41:36.251410+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-CO3 were set to 11063732; 33863631; 34054915; 8630495; 9634511; 12414820; 21163656; 16288875; 8630495; 9634511",
"entity_name": "MT-CO3",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:40:58.278142+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MT-CO3 were set to 20525945; 9634511; 11063732; 12414820",
"entity_name": "MT-CO3",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:39:56.022552+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MT-CO3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11063732, 33863631, 34054915, 8630495, 9634511, 12414820, 21163656, 16288875, 8630495, 9634511; Phenotypes: Mitochondrial disease MONDO:0044970, MT-CO3-related; Mode of inheritance: MITOCHONDRIAL",
"entity_name": "MT-CO3",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:21:10.564495+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-CO2 as ready",
"entity_name": "MT-CO2",
"entity_type": "gene"
},
{
"created": "2025-12-04T09:21:10.553944+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.31",
"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"
}
]
}