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{
"count": 220497,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=97",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=95",
"results": [
{
"created": "2025-12-09T12:45:05.454372+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.491",
"user_name": "Monica Petica",
"item_type": "entity",
"text": "reviewed gene: CTNND2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38604781, PMID: 25473103, PMID: 31814264,; Phenotypes: Neurodevelopmental disorders (NDDs), intellectual disability (ID), autism, behavioural issues; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "CTNND2",
"entity_type": "gene"
},
{
"created": "2025-12-08T17:15:05.647714+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ESRRG as ready",
"entity_name": "ESRRG",
"entity_type": "gene"
},
{
"created": "2025-12-08T17:15:05.640998+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: esrrg has been classified as Green List (High Evidence).",
"entity_name": "ESRRG",
"entity_type": "gene"
},
{
"created": "2025-12-08T17:14:54.867337+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ESRRG as ready",
"entity_name": "ESRRG",
"entity_type": "gene"
},
{
"created": "2025-12-08T17:14:54.856859+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: esrrg has been classified as Green List (High Evidence).",
"entity_name": "ESRRG",
"entity_type": "gene"
},
{
"created": "2025-12-08T17:14:36.143850+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.491",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene ESRRG from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-08T17:14:35.696331+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ESRRG was added\ngene: ESRRG was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature\nMode of inheritance for gene: ESRRG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ESRRG were set to 41265451\nPhenotypes for gene: ESRRG were set to Movement disorder, MONDO:0005395, ESRRG-related",
"entity_name": "ESRRG",
"entity_type": "gene"
},
{
"created": "2025-12-08T17:13:54.868999+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.156",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene ESRRG from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-08T17:13:54.678103+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ESRRG was added\ngene: ESRRG was added to Ataxia. Sources: Expert Review Green,Literature\nMode of inheritance for gene: ESRRG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ESRRG were set to 41265451\nPhenotypes for gene: ESRRG were set to Movement disorder, MONDO:0005395, ESRRG-related",
"entity_name": "ESRRG",
"entity_type": "gene"
},
{
"created": "2025-12-08T17:12:53.005746+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ESRRG as ready",
"entity_name": "ESRRG",
"entity_type": "gene"
},
{
"created": "2025-12-08T17:12:52.993892+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: esrrg has been classified as Green List (High Evidence).",
"entity_name": "ESRRG",
"entity_type": "gene"
},
{
"created": "2025-12-08T17:12:44.777843+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ESRRG as Green List (high evidence)",
"entity_name": "ESRRG",
"entity_type": "gene"
},
{
"created": "2025-12-08T17:12:44.762948+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: esrrg has been classified as Green List (High Evidence).",
"entity_name": "ESRRG",
"entity_type": "gene"
},
{
"created": "2025-12-08T17:12:20.603094+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ESRRG was added\ngene: ESRRG was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ESRRG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ESRRG were set to 41265451\nPhenotypes for gene: ESRRG were set to Movement disorder, MONDO:0005395, ESRRG-related\nReview for gene: ESRRG was set to GREEN\nAdded comment: Eight individuals from seven unrelated families reported with heterozygous, mostly de novo variants in ESRRG: c.410G>A (p.Gly137Glu), c.446A>G (p.Lys149Arg), c.539G>A (p.Cys180Tyr), c.550C>T (p.Arg184Cys), c.1346T>G (p.Leu449Arg), and c.1352dup (p.Leu451Phefs∗38). All individuals had motor developmental delay, muscular hypotonia, and eye movement disorders, as well as congenital ataxia or gait imbalance. Other symptoms included joint hyperflexibility, dysarthria, myopia, and growth delay. Supportive functional data. \nSources: Literature",
"entity_name": "ESRRG",
"entity_type": "gene"
},
{
"created": "2025-12-08T17:08:28.339097+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELMSAN1 as ready",
"entity_name": "ELMSAN1",
"entity_type": "gene"
},
{
"created": "2025-12-08T17:08:28.331418+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elmsan1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ELMSAN1",
"entity_type": "gene"
},
{
"created": "2025-12-08T17:08:17.077689+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELMSAN1 as ready",
"entity_name": "ELMSAN1",
"entity_type": "gene"
},
{
"created": "2025-12-08T17:08:17.069858+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elmsan1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ELMSAN1",
"entity_type": "gene"
},
{
"created": "2025-12-08T17:08:01.824450+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.490",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene ELMSAN1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-08T17:08:01.418050+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ELMSAN1 was added\ngene: ELMSAN1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature\nnew gene name tags were added to gene: ELMSAN1.\nMode of inheritance for gene: ELMSAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ELMSAN1 were set to Neurodevelopmental disorder, MONDO:0700092, ELMSAN1-related",
"entity_name": "ELMSAN1",
"entity_type": "gene"
},
{
"created": "2025-12-08T17:07:20.792992+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene ELMSAN1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-08T17:07:20.591399+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ELMSAN1 was added\ngene: ELMSAN1 was added to Arthrogryposis. Sources: Expert Review Amber,Literature\nnew gene name tags were added to gene: ELMSAN1.\nMode of inheritance for gene: ELMSAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ELMSAN1 were set to Neurodevelopmental disorder, MONDO:0700092, ELMSAN1-related",
"entity_name": "ELMSAN1",
"entity_type": "gene"
},
{
"created": "2025-12-08T17:06:18.365477+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELMSAN1 as ready",
"entity_name": "ELMSAN1",
"entity_type": "gene"
},
{
"created": "2025-12-08T17:06:18.358048+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elmsan1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ELMSAN1",
"entity_type": "gene"
},
{
"created": "2025-12-08T17:06:10.033077+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ELMSAN1 as Amber List (moderate evidence)",
"entity_name": "ELMSAN1",
"entity_type": "gene"
},
{
"created": "2025-12-08T17:06:10.019170+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elmsan1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ELMSAN1",
"entity_type": "gene"
},
{
"created": "2025-12-08T17:05:53.396200+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ELMSAN1 was added\ngene: ELMSAN1 was added to Mendeliome. Sources: Literature\nnew gene name tags were added to gene: ELMSAN1.\nMode of inheritance for gene: ELMSAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ELMSAN1 were set to Neurodevelopmental disorder, MONDO:0700092, ELMSAN1-related\nReview for gene: ELMSAN1 was set to AMBER\nAdded comment: PMID 41290615 reports 2 individuals from 2 unrelated families with the same heterozygous de novo missense variant p.Tyr654Ser presenting with a neurodevelopmental disorder characterized by speech delay, joint contractures, dysmorphic facial features, and gastrointestinal dysmotility. Functional studies demonstrated that the Y654S variant lies in an auto‑inhibitory loop of the MiDAC HDAC complex, causes a 3‑5‑fold increase in deacetylase activity, shows increased phosphorylation, and leads to reciprocal gene‑expression changes in patient fibroblasts versus loss‑of‑function models.\r\n\r\nNew HGNC approved name is MIDEAS. \nSources: Literature",
"entity_name": "ELMSAN1",
"entity_type": "gene"
},
{
"created": "2025-12-08T17:01:07.265818+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUCO as ready",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2025-12-08T17:01:07.258318+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suco has been classified as Green List (High Evidence).",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2025-12-08T17:00:34.693581+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.489",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SUCO from panel Osteogenesis Imperfecta and Osteoporosis",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-08T17:00:34.324063+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUCO was added\ngene: SUCO was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: SUCO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUCO were set to 29620724; 20440000; 41282771\nPhenotypes for gene: SUCO were set to Syndromic disease (MONDO:0002254), SUCO-related",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2025-12-08T16:59:06.905326+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUCO were changed from Osteogenesis imperfecta, MONDO:0019019, SUCO-related to Syndromic disease (MONDO:0002254), SUCO-related",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2025-12-08T16:58:39.790455+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUCO were set to 29620724; 20440000",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2025-12-08T16:58:10.247556+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SUCO as Green List (high evidence)",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2025-12-08T16:58:10.237535+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suco has been classified as Green List (High Evidence).",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2025-12-08T16:57:43.958854+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SUCO: Added comment: PMID 41282771: 13 individuals from 6 families reported with bi-allelic variants in this gene and features of spastic CP and OI. Identified variants included 2 truncating, 3 missense, and 3 canonical splice site variants. SUCO knockout (KO) (Opt −/−) mice display impaired bone formation and spontaneous fractures but also have evidence of a neurological phenotype with imbalanced gait and an impaired righting response. Drosophila model system using nervous system-specific RNAi knockdown of the SUCO ortholog (CG31678) showed neurological impairments occur independent of skeletal phenotypes.; Changed rating: GREEN; Changed publications: 20440000, 41282771; Changed phenotypes: Syndromic disease (MONDO:0002254), SUCO-related",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2025-12-08T16:56:52.241191+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUCO were changed from Osteogenesis imperfecta, MONDO:0019019, SUCO-related to Syndromic disease (MONDO:0002254), SUCO-related",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2025-12-08T16:56:30.728887+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUCO were set to 29620724; 20440000",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2025-12-08T16:56:08.837834+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SUCO as Green List (high evidence)",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2025-12-08T16:56:08.826643+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suco has been classified as Green List (High Evidence).",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2025-12-08T16:55:52.458766+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SUCO: Added comment: PMID 41282771: 13 individuals from 6 families reported with bi-allelic variants in this gene and features of spastic CP and OI. Identified variants included 2 truncating, 3 missense, and 3 canonical splice site variants. SUCO knockout (KO) (Opt −/−) mice display impaired bone formation and spontaneous fractures but also have evidence of a neurological phenotype with imbalanced gait and an impaired righting response. Drosophila model system using nervous system-specific RNAi knockdown of the SUCO ortholog (CG31678) showed neurological impairments occur independent of skeletal phenotypes.; Changed rating: GREEN; Changed publications: 20440000, 41282771; Changed phenotypes: Syndromic disease (MONDO:0002254), SUCO-related; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2025-12-08T16:54:26.717647+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUCO as ready",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2025-12-08T16:54:26.707136+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suco has been classified as Green List (High Evidence).",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2025-12-08T16:54:20.619360+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SUCO as Green List (high evidence)",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2025-12-08T16:54:20.608669+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suco has been classified as Green List (High Evidence).",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2025-12-08T16:53:53.895777+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUCO was added\ngene: SUCO was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SUCO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUCO were set to 20440000; 41282771\nPhenotypes for gene: SUCO were set to Syndromic disease (MONDO:0002254), SUCO-related\nReview for gene: SUCO was set to GREEN\nAdded comment: PMID 41282771: 13 individuals from 6 families reported with bi-allelic variants in this gene and features of spastic CP and OI. Identified variants included 2 truncating, 3 missense, and 3 canonical splice site variants. SUCO knockout (KO) (Opt −/−) mice display impaired bone formation and spontaneous fractures but also have evidence of a neurological phenotype with imbalanced gait and an impaired righting response. Drosophila model system using nervous system-specific RNAi knockdown of the SUCO ortholog (CG31678) showed neurological impairments occur independent of skeletal phenotypes. \nSources: Literature",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2025-12-08T10:42:58.672104+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCTD1 were changed from Scalp-ear-nipple syndrome MIM#181270 to Scalp-ear-nipple syndrome MIM#181270; Dental radicular dysplasia, MIM# 621434",
"entity_name": "KCTD1",
"entity_type": "gene"
},
{
"created": "2025-12-08T10:42:35.456387+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCTD1 were set to 23541344; 31324836",
"entity_name": "KCTD1",
"entity_type": "gene"
},
{
"created": "2025-12-08T10:42:14.761446+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCTD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 38791218; Phenotypes: Dental radicular dysplasia, MIM# 621434; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCTD1",
"entity_type": "gene"
},
{
"created": "2025-12-08T10:38:03.447978+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTF2H4 as ready",
"entity_name": "GTF2H4",
"entity_type": "gene"
},
{
"created": "2025-12-08T10:38:03.438775+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtf2h4 has been classified as Red List (Low Evidence).",
"entity_name": "GTF2H4",
"entity_type": "gene"
},
{
"created": "2025-12-08T10:37:50.272918+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTF2H4 as ready",
"entity_name": "GTF2H4",
"entity_type": "gene"
},
{
"created": "2025-12-08T10:37:50.263212+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtf2h4 has been classified as Red List (Low Evidence).",
"entity_name": "GTF2H4",
"entity_type": "gene"
},
{
"created": "2025-12-08T10:37:37.170955+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTF2H4 as ready",
"entity_name": "GTF2H4",
"entity_type": "gene"
},
{
"created": "2025-12-08T10:37:37.161020+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtf2h4 has been classified as Red List (Low Evidence).",
"entity_name": "GTF2H4",
"entity_type": "gene"
},
{
"created": "2025-12-08T10:34:42.238963+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.375",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene GTF2H4 from panel Photosensitivity Syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-08T10:34:42.085494+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GTF2H4 was added\ngene: GTF2H4 was added to Microcephaly. Sources: Expert Review Red,Literature\nMode of inheritance for gene: GTF2H4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTF2H4 were set to 40924495; 40924475\nPhenotypes for gene: GTF2H4 were set to Xeroderma pigmentosum, complementation group J, MIM# 621435",
"entity_name": "GTF2H4",
"entity_type": "gene"
},
{
"created": "2025-12-08T10:34:04.239846+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3745",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene GTF2H4 from panel Photosensitivity Syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-08T10:34:03.596686+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GTF2H4 was added\ngene: GTF2H4 was added to Mendeliome. Sources: Expert Review Red,Literature\nMode of inheritance for gene: GTF2H4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTF2H4 were set to 40924495; 40924475\nPhenotypes for gene: GTF2H4 were set to Xeroderma pigmentosum, complementation group J, MIM# 621435",
"entity_name": "GTF2H4",
"entity_type": "gene"
},
{
"created": "2025-12-08T10:33:49.751831+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.488",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene GTF2H4 from panel Photosensitivity Syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-08T10:33:49.268654+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GTF2H4 was added\ngene: GTF2H4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature\nMode of inheritance for gene: GTF2H4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTF2H4 were set to 40924495; 40924475\nPhenotypes for gene: GTF2H4 were set to Xeroderma pigmentosum, complementation group J, MIM# 621435",
"entity_name": "GTF2H4",
"entity_type": "gene"
},
{
"created": "2025-12-08T10:32:33.115764+11:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GTF2H4 were changed from Xeroderma pigmentosa, MONDO:0019600, GTF2H4-related to Xeroderma pigmentosum, complementation group J, MIM# 621435",
"entity_name": "GTF2H4",
"entity_type": "gene"
},
{
"created": "2025-12-08T10:31:49.818291+11:00",
"panel_name": "Photosensitivity Syndromes",
"panel_id": 156,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GTF2H4: Changed phenotypes: Xeroderma pigmentosum, complementation group J, MIM# 621435",
"entity_name": "GTF2H4",
"entity_type": "gene"
},
{
"created": "2025-12-08T02:10:58.931209+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.575",
"user_name": "Boris Keren",
"item_type": "entity",
"text": "gene: KMT2A was added\ngene: KMT2A was added to Callosome. Sources: Literature\nMode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KMT2A were set to 32641752\nPhenotypes for gene: KMT2A were set to intellectual disabilty; corpus callosum anomalies; dysmorphism; growth failure; broad thumbs; microcephaly; cryptorchidism; heart malformation; epilepsy; hirsutism\nPenetrance for gene: KMT2A were set to Incomplete\nMode of pathogenicity for gene: KMT2A was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: KMT2A was set to GREEN\ngene: KMT2A was marked as current diagnostic\nAdded comment: 15-20% of Wiedemann–Steiner have corpus callosum anomalies PMID: 32641752 \nSources: Literature",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2025-12-07T21:16:00.405065+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RRM2B as ready",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2025-12-07T21:16:00.397466+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rrm2b has been classified as Green List (High Evidence).",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2025-12-07T18:06:00.557954+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RRM2B were changed from to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2025-12-07T18:05:27.269635+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RRM2B were set to ",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2025-12-07T18:04:31.145898+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RRM2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2025-12-07T18:03:47.896720+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RARS2 as ready",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2025-12-07T18:03:47.886591+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rars2 has been classified as Green List (High Evidence).",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2025-12-07T18:03:44.779287+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RARS2 were changed from to Pontocerebellar hypoplasia, type 6, MIM# 611523",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2025-12-07T18:03:15.132629+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RARS2 were set to ",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2025-12-07T18:02:35.996438+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2025-12-07T18:01:47.783731+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPA2 as ready",
"entity_name": "PPA2",
"entity_type": "gene"
},
{
"created": "2025-12-07T18:01:47.773004+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppa2 has been classified as Green List (High Evidence).",
"entity_name": "PPA2",
"entity_type": "gene"
},
{
"created": "2025-12-07T18:01:44.628723+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPA2 were changed from to Sudden cardiac failure, alcohol-induced, 617223; Sudden cardiac failure, infantile, 617222",
"entity_name": "PPA2",
"entity_type": "gene"
},
{
"created": "2025-12-07T18:01:13.411846+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPA2 were set to ",
"entity_name": "PPA2",
"entity_type": "gene"
},
{
"created": "2025-12-07T18:00:33.964844+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPA2",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:59:48.417361+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLG as ready",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:59:48.407311+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polg has been classified as Green List (High Evidence).",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:59:45.794326+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLG were changed from to Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459; Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:59:12.508414+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLG were set to ",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:58:38.327059+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLG was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:57:33.935844+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PMPCB as ready",
"entity_name": "PMPCB",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:57:33.926070+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmpcb has been classified as Green List (High Evidence).",
"entity_name": "PMPCB",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:57:30.258309+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PMPCB were changed from to Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954",
"entity_name": "PMPCB",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:56:57.826543+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PMPCB were set to ",
"entity_name": "PMPCB",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:56:30.329510+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PMPCB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PMPCB",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:55:37.757936+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDSS2 as ready",
"entity_name": "PDSS2",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:55:37.750884+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdss2 has been classified as Green List (High Evidence).",
"entity_name": "PDSS2",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:55:34.187215+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDSS2 were changed from to Coenzyme Q10 deficiency, primary, 3 MIM#614652",
"entity_name": "PDSS2",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:54:54.587730+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDSS2 were set to ",
"entity_name": "PDSS2",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:54:26.484618+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDSS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDSS2",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:53:42.502785+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDP1 as ready",
"entity_name": "PDP1",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:53:42.494680+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdp1 has been classified as Green List (High Evidence).",
"entity_name": "PDP1",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:53:31.917995+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDP1 were changed from to Pyruvate dehydrogenase phosphatase deficiency - MIM#608782",
"entity_name": "PDP1",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:52:58.767241+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDP1 were set to ",
"entity_name": "PDP1",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:52:30.634925+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDP1",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:51:36.732693+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDHX as ready",
"entity_name": "PDHX",
"entity_type": "gene"
}
]
}