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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=159",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=157",
"results": [
{
"created": "2025-10-02T16:01:10.895596+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RABL2A were changed from male infertility; ciliopathy to Infertility disorder, MONDO:0005047, RABL2A-related",
"entity_name": "RABL2A",
"entity_type": "gene"
},
{
"created": "2025-10-02T16:00:50.028261+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.426",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DNM2.\nSource Expert list was added to DNM2.\nPhenotypes for gene: DNM2 were changed from to Lethal congenital contracture syndrome 5, MIM# 615368",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2025-10-02T16:00:19.931601+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB14 were changed from Developmental disorders to Neurodevelopmental disorder MONDO:0700092, RAB14-related",
"entity_name": "RAB14",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:59:48.860326+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RAB14: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, RAB14-related",
"entity_name": "RAB14",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:59:31.049102+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB14 were changed from Developmental disorders to Neurodevelopmental disorder MONDO:0700092, RAB14-related",
"entity_name": "RAB14",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:56:04.684306+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PJA1 were changed from Trigonocephaly, intellectual disability to X-linked complex neurodevelopmental disorder, PJA1-related, MONDO:0100148",
"entity_name": "PJA1",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:55:53.227472+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PJA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: X-linked complex neurodevelopmental disorder, PJA1-related, MONDO:0100148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PJA1",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:55:31.427741+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PJA1 were changed from Intellectual disability; trigonocephaly to X-linked complex neurodevelopmental disorder, PJA1-related, MONDO:0100148",
"entity_name": "PJA1",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:55:05.345907+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PJA1: Changed phenotypes: X-linked complex neurodevelopmental disorder, PJA1-related, MONDO:0100148",
"entity_name": "PJA1",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:54:59.111068+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3263",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DNM2 were changed from Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482; Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; MONDO:0011674; Lethal congenital contracture syndrome 5, MIM# 615368 to Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482; Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; MONDO:0011674; Centronuclear myopathy 1, MIM# 160150; Lethal congenital contracture syndrome 5, MIM# 615368",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:54:49.185953+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PJA1 were changed from Intellectual disability; trigonocephaly to X-linked complex neurodevelopmental disorder, PJA1-related, MONDO:0100148",
"entity_name": "PJA1",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:54:26.448884+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PJA1: Changed phenotypes: X-linked complex neurodevelopmental disorder, PJA1-related, MONDO:0100148",
"entity_name": "PJA1",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:54:20.843037+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3262",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DNM2.\nSource Expert list was added to DNM2.\nPhenotypes for gene: DNM2 were changed from Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482; Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; MONDO:0011674 to Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482; Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; MONDO:0011674; Lethal congenital contracture syndrome 5, MIM# 615368",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:54:08.793343+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PJA1 were changed from Intellectual disability; trigonocephaly to X-linked complex neurodevelopmental disorder, PJA1-related, MONDO:0100148",
"entity_name": "PJA1",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:50:27.722008+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.425",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DNM2 as Red List (low evidence)",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:50:27.700586+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.425",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dnm2 has been classified as Red List (Low Evidence).",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:50:08.427078+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.424",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: DNM2: Rating: RED; Mode of pathogenicity: None; Publications: 23092955; Phenotypes: Lethal congenital contracture syndrome 5, MIM# 615368; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:49:59.223653+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDE1 were changed from Lissencephaly 4 (with microcephaly), MIM# 614019; MONDO:0013527; Microhydranencephaly, MIM# 605013; MONDO:0011504 to Microcephaly with lissencephaly and/or hydranencephaly, MONDO:0700116",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:49:45.024472+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDE1: Changed phenotypes: Microcephaly with lissencephaly and/or hydranencephaly, MONDO:0700116",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:49:10.851989+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDE1 were changed from Lissencephaly 4 (with microcephaly), MIM# 614019; MONDO:0013527; Microhydranencephaly, MIM# 605013; MONDO:0011504 to Microcephaly with lissencephaly and/or hydranencephaly, MONDO:0700116",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:48:38.146922+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDE1: Changed phenotypes: Microcephaly with lissencephaly and/or hydranencephaly, MONDO:0700116",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:48:18.984807+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDE1 were changed from Microhydranencephaly 605013; Lissencephaly 4 (with microcephaly) 614019 to Microcephaly with lissencephaly and/or hydranencephaly, MONDO:0700116",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:47:49.734095+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDE1: Changed rating: GREEN; Changed phenotypes: Microcephaly with lissencephaly and/or hydranencephaly, MONDO:0700116; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:47:29.283302+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDE1 were changed from Lissencephaly 4 (with microcephaly), MIM# 614019; MONDO:0013527; Microhydranencephaly, MIM# 605013; MONDO:0011504 to Microcephaly with lissencephaly and/or hydranencephaly, MONDO:0700116",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:47:18.840866+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.324",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene DNMT3A were changed from 24614070 to 24614070",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:47:04.462694+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDE1: Changed phenotypes: Microcephaly with lissencephaly and/or hydranencephaly, MONDO:0700116",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:46:42.403352+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDE1 were changed from Microcephaly with lissencephaly and/or hydranencephaly, MONDO:0700116 to Microcephaly with lissencephaly and/or hydranencephaly, MONDO:0700116",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:46:29.340418+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDE1 were changed from Microhydranencephaly 605013; Lissencephaly 4 (with microcephaly) 614019 to Microcephaly with lissencephaly and/or hydranencephaly, MONDO:0700116",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:46:27.589795+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.323",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DNMT3A.\nPhenotypes for gene: DNMT3A were changed from Tatton-Brown-Rahman syndrome 615879 to Heyn-Sproul-Jackson syndrome, MIM# 618724",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:45:57.916106+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDE1: Changed phenotypes: Microcephaly with lissencephaly and/or hydranencephaly, MONDO:0700116",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:45:40.017380+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDE1 were changed from Microhydranencephaly 605013; Lissencephaly 4 (with microcephaly) 614019 to Microcephaly with lissencephaly and/or hydranencephaly, MONDO:0700116",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:44:23.922938+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEK9 were changed from Lethal congenital contracture syndrome 10, MIM#\t617022; Skeletal dysplasia to NEK9-related lethal skeletal dysplasia MONDO:0014870",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:43:53.379205+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NEK9: Changed phenotypes: NEK9-related lethal skeletal dysplasia MONDO:0014870",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:43:42.549160+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.222",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DALRD3 were changed from Epileptic encephalopathy; Epileptic encephalopathy, early infantile, 86\t618910 to Developmental and epileptic encephalopathy, 86 MONDO:0030054",
"entity_name": "DALRD3",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:43:42.209098+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3259",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DALRD3 were changed from Epileptic encephalopathy; Epileptic encephalopathy, early infantile, 86\t618910 to Developmental and epileptic encephalopathy, 86 MONDO:0030054",
"entity_name": "DALRD3",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:43:18.365882+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEK9 were changed from Lethal congenital contracture syndrome 10, MIM# 617022; Arthrogryposis, Perthes disease, and upward gaze palsy, MIM# 614262; Skeletal dysplasia to NEK9-related lethal skeletal dysplasia MONDO:0014870; Lethal congenital contracture syndrome 10, MIM# 617022; Arthrogryposis, Perthes disease, and upward gaze palsy, MIM# 614262; Skeletal dysplasia",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:40:05.064993+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3257",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DMGDH.\nSource Expert list was added to DMGDH.\nPhenotypes for gene: DMGDH were changed from Dimethylglycine dehydrogenase deficiency MIM#605850; Disorders and variants of other enzymes that oxidise xenobiotics to Dimethylglycine dehydrogenase deficiency MIM#605850",
"entity_name": "DMGDH",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:39:54.963541+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.53",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DMGDH were changed from Dimethylglycine dehydrogenase deficiency MIM#605850; Disorders and variants of other enzymes that oxidise xenobiotics to Dimethylglycine dehydrogenase deficiency MIM#605850",
"entity_name": "DMGDH",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:39:43.130821+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3256",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DMGDH as Red List (low evidence)",
"entity_name": "DMGDH",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:39:43.124115+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3256",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dmgdh has been classified as Red List (Low Evidence).",
"entity_name": "DMGDH",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:39:15.973252+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.52",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DMGDH as Red List (low evidence)",
"entity_name": "DMGDH",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:39:15.962710+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.52",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dmgdh has been classified as Red List (Low Evidence).",
"entity_name": "DMGDH",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:38:56.129435+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.51",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: DMGDH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dimethylglycine dehydrogenase deficiency MONDO:0011610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DMGDH",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:38:53.893741+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3255",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: DMGDH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dimethylglycine dehydrogenase deficiency MONDO:0011610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DMGDH",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:34:01.598196+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.55",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Literature was removed from DAB1.\nPhenotypes for gene: DAB1 were changed from epilepsy; developmental delay; cerebellar ataxia; structural brain abnormalities; oral motor difficulty to Neurodevelopmental disorder, MONDO:0700092, DAB1-related",
"entity_name": "DAB1",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:33:49.583136+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.221",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DAB1.\nPhenotypes for gene: DAB1 were changed from epilepsy; developmental delay; cerebellar ataxia; structural brain abnormalities; oral motor difficulty to Neurodevelopmental disorder, MONDO:0700092, DAB1-related",
"entity_name": "DAB1",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:33:48.007495+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3255",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DAB1.\nPhenotypes for gene: DAB1 were changed from Spinocerebellar ataxia 37 MIM#615945; Ataxia and intellectual disability to Spinocerebellar ataxia 37 MIM#615945; Neurodevelopmental disorder, MONDO:0700092, DAB1-related",
"entity_name": "DAB1",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:22:05.494388+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3254",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DMC1 were changed from Primary ovarian failure, MONDO:0005387,; Azoospermia, MONDO:010045 to Primary ovarian failure, MONDO:0005387, Azoospermia, MONDO:0100459, DMC1-related\nPublications for gene DMC1 were changed from 34794894, 18166824, 29331980, 9660954, 9660953 to 34794894, 18166824, 29331980, 9660954, 9660953",
"entity_name": "DMC1",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:22:03.524624+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.359",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene DMC1 were changed from 34794894, 18166824, 29331980, 9660954, 9660953 to 34794894, 18166824, 29331980, 9660954, 9660953",
"entity_name": "DMC1",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:19:25.441101+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.358",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DMC1 were changed from Primary ovarian failure, MONDO:0005387,; Azoospermia, MONDO:010045 to Primary ovarian failure, MONDO:0005387, Azoospermia, MONDO:0100459, DMC1-related",
"entity_name": "DMC1",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:12:42.480282+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.316",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DNAJA1 were changed from Intellectual disability; seizures to Neurodevelopmental disorder, MONDO:0700092, DNAJA1-related",
"entity_name": "DNAJA1",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:12:23.124794+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3253",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DNAJA1 were changed from Intellectual disability; seizures to Neurodevelopmental disorder, MONDO:0700092, DNAJA1-related",
"entity_name": "DNAJA1",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:09:58.179166+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.421",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DNAH6 as Red List (low evidence)",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:09:58.169732+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.421",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dnah6 has been classified as Red List (Low Evidence).",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:09:48.911731+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.420",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: DNAH6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:09:23.560561+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.42",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DNAH6 as Red List (low evidence)",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:09:23.552490+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.42",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dnah6 has been classified as Red List (Low Evidence).",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:09:01.366142+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.41",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: DNAH6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2025-10-02T15:07:18.058619+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.56",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DNAH6 were changed from Heterotaxy, Azoospermia to Primary ciliary dyskinesia, MONDO:0016575",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2025-10-02T14:57:06.434272+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.357",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DMC1 as Green List (high evidence)",
"entity_name": "DMC1",
"entity_type": "gene"
},
{
"created": "2025-10-02T14:57:06.423819+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.357",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dmc1 has been classified as Green List (High Evidence).",
"entity_name": "DMC1",
"entity_type": "gene"
},
{
"created": "2025-10-02T14:57:05.516220+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3252",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DMC1 were changed from Primary ovarian insufficiency; non-obstructive azoospermia to Primary ovarian failure, MONDO:0005387,; Azoospermia, MONDO:010045",
"entity_name": "DMC1",
"entity_type": "gene"
},
{
"created": "2025-10-02T14:56:53.383872+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.356",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DMC1 were changed from Primary ovarian insufficiency; non-obstructive azoospermia to Primary ovarian failure, MONDO:0005387,; Azoospermia, MONDO:010045",
"entity_name": "DMC1",
"entity_type": "gene"
},
{
"created": "2025-10-02T14:50:44.646906+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.18",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Literature was removed from DLK1.\nSource Expert list was added to DLK1.\nPhenotypes for gene: DLK1 were changed from central precocious puberty to central precocious puberty, MONDO:0019165",
"entity_name": "DLK1",
"entity_type": "gene"
},
{
"created": "2025-10-02T14:50:26.682939+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3251",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DLK1 were changed from central precocious puberty to central precocious puberty, MONDO:0019165",
"entity_name": "DLK1",
"entity_type": "gene"
},
{
"created": "2025-10-02T14:47:11.801254+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3250",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DGCR8 were changed from Schwannoma, MONDO:0002546 to Schwannoma, MONDO:0002546; Early-onset multinodular goiter and schwannomatosis, no MIM#",
"entity_name": "DGCR8",
"entity_type": "gene"
},
{
"created": "2025-10-02T14:46:55.342171+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3249",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: DGCR8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Schwannoma, MONDO:0002546, Early-onset multinodular goiter and schwannomatosis, no MIM#; Mode of inheritance: None",
"entity_name": "DGCR8",
"entity_type": "gene"
},
{
"created": "2025-10-02T14:46:33.771105+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3248",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Literature was removed from DGCR8.\nSource Expert list was added to DGCR8.\nPhenotypes for gene: DGCR8 were changed from Early-onset multinodular goiter and schwannomatosis to Schwannoma, MONDO:0002546",
"entity_name": "DGCR8",
"entity_type": "gene"
},
{
"created": "2025-10-02T14:44:07.510943+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3247",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DHX34 were changed from Intellectual disability; congenital anomalies to Neurodevelopmental disorder, MONDO:0700092, DHX34-related",
"entity_name": "DHX34",
"entity_type": "gene"
},
{
"created": "2025-10-02T14:39:25.773731+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.275",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DLG1 were changed from Non-syndromic cleft lip with or without cleft palate to cleft lip/palate MONDO:0016044",
"entity_name": "DLG1",
"entity_type": "gene"
},
{
"created": "2025-10-02T14:39:25.567028+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3245",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DLG1 were changed from Non-syndromic cleft lip and palate to cleft lip/palate MONDO:0016044",
"entity_name": "DLG1",
"entity_type": "gene"
},
{
"created": "2025-10-02T14:38:32.670007+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.274",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: DLG1: Rating: RED; Mode of pathogenicity: None; Publications: 28926086; Phenotypes: Non-syndromic cleft lip and palate; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DLG1",
"entity_type": "gene"
},
{
"created": "2025-10-02T14:37:16.607317+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.375",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DNMBP were changed from congenital cataract to Cataract 48, MIM#618415",
"entity_name": "DNMBP",
"entity_type": "gene"
},
{
"created": "2025-10-02T14:37:15.374595+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3244",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DNMBP were changed from congenital cataract to Cataract 48, MIM#618415",
"entity_name": "DNMBP",
"entity_type": "gene"
},
{
"created": "2025-10-02T14:35:01.029254+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1078",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DNA2.\nSource Australian Genomics Health Alliance Mitochondrial Flagship was removed from DNA2.\nSource Expert list was added to DNA2.\nMode of inheritance for gene DNA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2025-10-02T14:25:24.729782+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3243",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DNAJB11.\nSource Expert list was added to DNAJB11.\nPublications for gene DNAJB11 were changed from 29706351, 29777155, 32631624, 35664268, 32775842, 33129895, 34177435 to 29706351, 29777155, 32631624, 35664268, 32775842, 33129895, 34177435",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2025-10-02T14:25:14.174969+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.86",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Mode of inheritance for gene DNAJB11 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2025-10-02T14:24:59.716620+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.86",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Mode of inheritance for gene DNAJB11 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene DNAJB11 were changed from 29706351, 29777155, 32631624, 35664268, 32775842, 33129895, 34177435 to 29706351, 29777155, 32631624, 35664268, 32775842, 33129895, 34177435",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2025-10-02T14:13:46.475916+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3242",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from ACTG1.\nSource Expert list was added to ACTG1.\nPublications for gene ACTG1 were changed from PMID: 29620237, 22366783, 25052316, 28493397, 26188271, 27240540, 13680526, 14684684, 16773128, 19477959, 19497859 to PMID: 29620237, 22366783, 25052316, 28493397, 26188271, 27240540, 13680526, 14684684, 16773128, 19477959, 19497859",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2025-10-02T13:28:14.071772+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.202",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source London South GLH was removed from ACTN2.\nSource South West GLH was removed from ACTN2.\nSource Victorian Clinical Genetics Services was removed from ACTN2.\nPhenotypes for gene: ACTN2 were changed from Dilated Cardiomyopathy, Dominant to Dilated Cardiomyopathy, Dominant; ACTN2-related cardiac and skeletal myopathy, MONDO:0700349",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2025-10-02T13:28:05.275554+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.62",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from ACTN2.\nPhenotypes for gene: ACTN2 were changed from Myopathy, distal, 6, adult onset MIM#618655 to Myopathy, distal, 6, adult onset MIM#618655; ACTN2-related cardiac and skeletal myopathy, MONDO:0700349",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2025-10-02T13:27:58.635804+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.98",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Other was removed from ACTN2.\nPhenotypes for gene: ACTN2 were changed from Congenital Myopathy 8 (MIM#618654; MONDO: 0032852) to Congenital Myopathy 8 (MIM#618654; MONDO: 0032852); ACTN2-related cardiac and skeletal myopathy, MONDO:0700349",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2025-10-02T13:27:30.164605+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from ACTN2.\nSource Expert Review was added to ACTN2.\nPhenotypes for gene: ACTN2 were changed from Cardiomyopathy, hypertrophic, 23, with or without LVNC, MIM#\t612158 to Cardiomyopathy, hypertrophic, 23, with or without LVNC, MIM#\t612158; ACTN2-related cardiac and skeletal myopathy, MONDO:0700349",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2025-10-02T13:27:10.558943+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.45",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Literature was removed from ACTN2.\nSource Expert Review was added to ACTN2.\nPhenotypes for gene: ACTN2 were changed from Cardiomyopathy, dilated, 1AA, with or without LVNC, MIM# 612158 to Cardiomyopathy, dilated, 1AA, with or without LVNC, MIM# 612158; ACTN2-related cardiac and skeletal myopathy, MONDO:0700349",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2025-10-02T13:19:47.457119+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3241",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "reviewed gene: BCL11B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40033098, 37860968, 37337996; Phenotypes: Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities, MONDO:0060763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BCL11B",
"entity_type": "gene"
},
{
"created": "2025-10-02T13:17:46.266073+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.220",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Mode of inheritance for gene ADGRV1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2025-10-02T13:13:33.265182+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3241",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from ADGRV1.\nSource Expert list was added to ADGRV1.\nPublications for gene ADGRV1 were changed from 22147658, 25572244, 14740321 to 22147658, 25572244, 14740321",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2025-10-02T13:08:28.941854+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3240",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene AFP were changed from 15280901; 18854864, 14699509, 7684942 to 15280901; 18854864, 14699509, 7684942",
"entity_name": "AFP",
"entity_type": "gene"
},
{
"created": "2025-10-02T13:07:41.769520+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3239",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from AFP.\nSource Literature was added to AFP.\nMode of inheritance for gene AFP was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "AFP",
"entity_type": "gene"
},
{
"created": "2025-10-02T13:07:16.369761+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3238",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: AFP: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 14699509, 7684942; Phenotypes: [Hereditary persistence of alpha-fetoprotein] MIM#615970; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AFP",
"entity_type": "gene"
},
{
"created": "2025-10-02T13:02:23.541367+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.28",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40565534, 40933483; Phenotypes: Ciliopathy, MONDO:0005308, B9D1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2025-10-02T13:01:46.542388+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.85",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40565534, 40933483; Phenotypes: Ciliopathy, MONDO:0005308, B9D1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2025-10-02T13:01:21.606057+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3238",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40565534, 40933483; Phenotypes: Ciliopathy, MONDO:0005308, B9D1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2025-10-02T13:00:29.551116+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3238",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:59:59.692961+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3238",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40565534, 40933483; Phenotypes: Ciliopathy, MONDO:0005308, B9D1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:57:36.378799+10:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.21",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "reviewed gene: RNF31: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39009172, PMID: 41026334; Phenotypes: Immunodeficiency 115 with autoinflammation, MIM# 620632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNF31",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:53:51.279314+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "1.15",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene AKT1 were changed from 23246288, 21793738, 33030203 to 23246288, 21793738, 33030203",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:53:44.850330+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "1.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:53:32.921093+10:00",
"panel_name": "Vascular Malformations_Somatic",
"panel_id": 3181,
"panel_version": "1.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: AKT1: Rating: ; Mode of pathogenicity: None; Publications: PMID: 21793738, 33030203; Phenotypes: ; Mode of inheritance: None",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2025-10-02T12:50:47.251569+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.151",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: AKT1 as Red List (low evidence)",
"entity_name": "AKT1",
"entity_type": "gene"
}
]
}