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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=155",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=153",
"results": [
{
"created": "2025-10-07T20:55:56.232489+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: MRPS36.",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T20:53:21.037304+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: MRPS36.",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T20:52:48.361889+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRPS36 as ready",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T20:52:48.350785+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrps36 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T20:51:06.584082+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: MRPS36.",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T20:50:34.536695+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: MRPS36.",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T19:05:52.330017+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.342",
"user_name": "Boris Keren",
"item_type": "entity",
"text": "reviewed gene: CRNKL1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 40857589; Phenotypes: intellectual disability, epilepsy, simplified gyration, microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CRNKL1",
"entity_type": "gene"
},
{
"created": "2025-10-07T19:03:05.251556+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.198",
"user_name": "Boris Keren",
"item_type": "entity",
"text": "gene: CRNKL1 was added\ngene: CRNKL1 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: CRNKL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CRNKL1 were set to 40857589\nPhenotypes for gene: CRNKL1 were set to intellectual disability; epilepsy; simplified gyration; microcephaly\nPenetrance for gene: CRNKL1 were set to Complete\nMode of pathogenicity for gene: CRNKL1 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: CRNKL1 was set to GREEN\ngene: CRNKL1 was marked as current diagnostic\nAdded comment: 10 cases with de novo missenses variants PMID: 40857589. \r\nPhenotype : intellectual disability, microcephaly, simplified gyration, epilepsy.\r\nhypothesis : gain-of-function or dominant negative \nSources: Literature",
"entity_name": "CRNKL1",
"entity_type": "gene"
},
{
"created": "2025-10-07T18:57:26.951314+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.337",
"user_name": "Boris Keren",
"item_type": "entity",
"text": "reviewed gene: CRNKL1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 40857589; Phenotypes: microcephaly, intellectual disability, simplified gyration, epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CRNKL1",
"entity_type": "gene"
},
{
"created": "2025-10-07T12:02:31.475463+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3305",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: MRC2 as ready",
"entity_name": "MRC2",
"entity_type": "gene"
},
{
"created": "2025-10-07T12:02:31.465184+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3305",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: mrc2 has been classified as Red List (Low Evidence).",
"entity_name": "MRC2",
"entity_type": "gene"
},
{
"created": "2025-10-07T12:02:21.666605+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3305",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MRC2 was added\ngene: MRC2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MRC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MRC2 were set to PMID: 38953222\nPhenotypes for gene: MRC2 were set to Wolff-Parkinson-White syndrome - MONDO:0008685, MRC2-related\nReview for gene: MRC2 was set to RED\nAdded comment: PMID: 38953222 - Multiple indiviuals from 1 family with het MRC2 variant c.2969A>G; p.Glu990Gly and SVT or WPW reported. In vivo electrophysiological studies/optical mapping in knock-in mice with the E990G variant demonstrated higher incidence of inducible SVT and retrograde conduction through an accessory pathway. Studies in human cardiac fibroblasts revealed enhanced migration in Mrc2-knockdown cells. \nSources: Literature",
"entity_name": "MRC2",
"entity_type": "gene"
},
{
"created": "2025-10-07T12:01:41.814088+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "1.3",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: Multiple indiviuals from 1 family with het MRC2 variant c.2969A>G; p.Glu990Gly and SVT or WPW reported. In vivo electrophysiological studies/optical mapping in knock-in mice with the E990G variant demonstrated higher incidence of inducible SVT and retrograde conduction through an accessory pathway. Studies in human cardiac fibroblasts revealed enhanced migration in Mrc2-knockdown cells. \nSources: Literature; to: PMID: 38953222 - Multiple indiviuals from 1 family with het MRC2 variant c.2969A>G; p.Glu990Gly and SVT or WPW reported. In vivo electrophysiological studies/optical mapping in knock-in mice with the E990G variant demonstrated higher incidence of inducible SVT and retrograde conduction through an accessory pathway. Studies in human cardiac fibroblasts revealed enhanced migration in Mrc2-knockdown cells. \r\nSources: Literature",
"entity_name": "MRC2",
"entity_type": "gene"
},
{
"created": "2025-10-07T12:01:07.065279+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "1.3",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Publications for gene: MRC2 were set to ",
"entity_name": "MRC2",
"entity_type": "gene"
},
{
"created": "2025-10-07T11:59:25.792849+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "1.2",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: MRC2 as ready",
"entity_name": "MRC2",
"entity_type": "gene"
},
{
"created": "2025-10-07T11:59:25.785633+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "1.2",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: mrc2 has been classified as Red List (Low Evidence).",
"entity_name": "MRC2",
"entity_type": "gene"
},
{
"created": "2025-10-07T11:59:16.156461+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "1.2",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MRC2 was added\ngene: MRC2 was added to Cardiac conduction disease. Sources: Literature\nMode of inheritance for gene: MRC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MRC2 were set to Wolff-Parkinson-White syndrome - MONDO:0008685, MRC2-related\nReview for gene: MRC2 was set to RED\nAdded comment: Multiple indiviuals from 1 family with het MRC2 variant c.2969A>G; p.Glu990Gly and SVT or WPW reported. In vivo electrophysiological studies/optical mapping in knock-in mice with the E990G variant demonstrated higher incidence of inducible SVT and retrograde conduction through an accessory pathway. Studies in human cardiac fibroblasts revealed enhanced migration in Mrc2-knockdown cells. \nSources: Literature",
"entity_name": "MRC2",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:46:59.313272+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3304",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: EMB was added\ngene: EMB was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EMB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EMB were set to PMID: 40999499\nPhenotypes for gene: EMB were set to Hirschsprung disease - MONDO:0018309, EMB-related\nAdded comment: Li et al 2025 report enrichment of rare EMB variants in a cohort of patients with Hirschsprung disease. No additional phenotypic or variant information provided. Various in vitro studies and zebrafish/knockout mouse model associate loss of EMB with HSCR phenotype. \nSources: Literature",
"entity_name": "EMB",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:32:17.202388+11:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.27",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: EMB was added\ngene: EMB was added to Hirschsprung disease. Sources: Literature\nMode of inheritance for gene: EMB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EMB were set to PMID: 40999499\nPhenotypes for gene: EMB were set to Hirschsprung disease - MONDO:0018309, EMB-related\nReview for gene: EMB was set to RED\nAdded comment: Li et al 2025 report enrichment of rare EMB variants in a cohort of patients with Hirschsprung disease. No additional phenotypic or variant information provided. Various in vitro studies and zebrafish/knockout mouse model associate loss of EMB with HSCR phenotype. \nSources: Literature",
"entity_name": "EMB",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:15:06.068195+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.337",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: MRPS36 as Amber List (moderate evidence)",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:15:06.061179+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.337",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: mrps36 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:14:54.549385+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.336",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: MRPS36 as ready",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:14:54.541630+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.336",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: mrps36 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:14:46.756645+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.336",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: MRPS36 as Amber List (moderate evidence)",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:14:46.746292+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.336",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: mrps36 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:14:19.292106+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.335",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MRPS36 was added\ngene: MRPS36 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MRPS36 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPS36 were set to PMID: 41018056; 38685873\nPhenotypes for gene: MRPS36 were set to Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related\nReview for gene: MRPS36 was set to AMBER\nAdded comment: 3 individuals from 2 unrelated families reported with biallelic MRPS36 variants (current HGNC is KGD4). Gene encodes E4 subunit of OGDHC complex. Individuals present with a phenotype consistent with Leigh syndrome including seizures, hypotonia, dystonia, brain imaging anomalies, persistent lactic acidosis. GDD, ID and cardiomyopathy also reported.\r\n\r\nPatient-derived fibroblast studies demonstrates reduced OGDHC enzymatic activity, however, this functional evidence is not gene or variant-specific. \nSources: Literature",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:11:54.797948+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.235",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: MRPS36 as Amber List (moderate evidence)",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:11:54.789231+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.235",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: mrps36 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:11:38.148083+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.234",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: MRPS36 as Amber List (moderate evidence)",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:11:38.138670+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.234",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: mrps36 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:11:26.762114+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.233",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: MRPS36 as ready",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:11:26.751520+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.233",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: mrps36 has been classified as Red List (Low Evidence).",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:11:09.538025+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.233",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MRPS36 was added\ngene: MRPS36 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: MRPS36 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPS36 were set to PMID: 41018056; 38685873\nPhenotypes for gene: MRPS36 were set to Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related\nReview for gene: MRPS36 was set to AMBER\nAdded comment: 3 individuals from 2 unrelated families reported with biallelic MRPS36 variants (current HGNC is KGD4). Gene encodes E4 subunit of OGDHC complex. Individuals present with a phenotype consistent with Leigh syndrome including seizures, hypotonia, dystonia, brain imaging anomalies, persistent lactic acidosis. Cardiomyopathy also reported.\r\n\r\nPatient-derived fibroblast studies demonstrates reduced OGDHC enzymatic activity, however, this functional evidence is not gene or variant-specific. \nSources: Literature",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:07:18.252934+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3303",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: MRPS36 as Amber List (moderate evidence)",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:07:18.242799+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3303",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: mrps36 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:06:55.713988+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3302",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MRPS36 was added\ngene: MRPS36 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MRPS36 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPS36 were set to PMID: 41018056; 38685873\nPhenotypes for gene: MRPS36 were set to Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related\nReview for gene: MRPS36 was set to AMBER\nAdded comment: 3 individuals from 2 unrelated families reported with biallelic MRPS36 variants (current HGNC is KGD4). Gene encodes E4 subunit of OGDHC complex. Individuals present with a phenotype consistent with Leigh syndrome including seizures, hypotonia, dystonia, brain imaging anomalies, persistent lactic acidosis. Cardiomyopathy also reported.\r\n\r\nPatient-derived fibroblast studies demonstrates reduced OGDHC enzymatic activity, however, this functional evidence is not gene or variant-specific. \nSources: Literature",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:05:25.643285+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.205",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: MRPS36 as ready",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:05:25.633669+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.205",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: mrps36 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:05:22.609927+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.205",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: MRPS36 as Amber List (moderate evidence)",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:05:22.603119+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.205",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: mrps36 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:05:11.435541+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.204",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MRPS36 was added\ngene: MRPS36 was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: MRPS36 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPS36 were set to PMID: 41018056; 38685873\nPhenotypes for gene: MRPS36 were set to Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related\nReview for gene: MRPS36 was set to AMBER\nAdded comment: 3 individuals from 2 unrelated families reported with biallelic MRPS36 variants (current HGNC is KGD4). Gene encodes E4 subunit of OGDHC complex. Individuals present with a phenotype consistent with Leigh syndrome including seizures, hypotonia, dystonia, brain imaging anomalies, persistent lactic acidosis.\r\nCardiomyopathy also reported.\r\n\r\nPatient-derived fibroblast studies demonstrates reduced OGDHC enzymatic activity, however, this functional evidence is not gene or variant-specific. \nSources: Literature",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:04:10.791650+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.104",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: MRPS36 as Amber List (moderate evidence)",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:04:10.784148+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.104",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: mrps36 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:03:40.835133+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.103",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MRPS36 was added\ngene: MRPS36 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: MRPS36 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPS36 were set to PMID: 41018056; 38685873\nPhenotypes for gene: MRPS36 were set to Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related\nReview for gene: MRPS36 was set to AMBER\nAdded comment: 3 individuals from 2 unrelated families reported with biallelic MRPS36 variants (current HGNC is KGD4). Gene encodes E4 subunit of OGDHC complex. Individuals present with a phenotype consistent with Leigh syndrome including seizures, hypotonia, dystonia, brain imaging anomalies, persistent lactic acidosis. Cardiomyopathy also reported.\r\n\r\nPatient-derived fibroblast studies demonstrates reduced OGDHC enzymatic activity, however, this functional evidence is not gene or variant-specific. \nSources: Literature",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:02:16.700040+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.329",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: MRPS36 as ready",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:02:16.693869+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.329",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: mrps36 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:02:12.570231+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.329",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: MRPS36 as Amber List (moderate evidence)",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:02:12.563241+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.329",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: mrps36 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:02:01.588737+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.328",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MRPS36 was added\ngene: MRPS36 was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: MRPS36 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPS36 were set to PMID: 41018056; 38685873\nPhenotypes for gene: MRPS36 were set to Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related\nReview for gene: MRPS36 was set to AMBER\nAdded comment: 3 individuals from 2 unrelated families reported with biallelic MRPS36 variants (current HGNC is KGD4). Gene encodes E4 subunit of OGDHC complex. Individuals present with a phenotype consistent with Leigh syndrome including seizures, hypotonia, dystonia, brain imaging anomalies, persistent lactic acidosis. Cardiomyopathy also reported.\r\n\r\nPatient-derived fibroblast studies demonstrates reduced OGDHC enzymatic activity, however, this functional evidence is not gene or variant-specific. \nSources: Literature",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:00:52.379739+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.288",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: MRPS36 as Amber List (moderate evidence)",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:00:52.373463+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.288",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: mrps36 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:00:42.146761+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.287",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: MRPS36 as Amber List (moderate evidence)",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:00:42.136691+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.287",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: mrps36 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:00:39.687828+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.286",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: MRPS36 as ready",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T10:00:39.678978+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.286",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: mrps36 has been classified as Red List (Low Evidence).",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T09:59:36.598454+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.286",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MRPS36 was added\ngene: MRPS36 was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: MRPS36 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPS36 were set to PMID: 41018056; 38685873\nPhenotypes for gene: MRPS36 were set to Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related\nReview for gene: MRPS36 was set to AMBER\nAdded comment: 3 individuals from 2 unrelated families reported with biallelic MRPS36 variants (current HGNC is KGD4). Gene encodes E4 subunit of OGDHC complex. Individuals present with a phenotype consistent with Leigh syndrome including seizures, hypotonia, dystonia, brain imaging anomalies, persistent lactic acidosis. Cardiomyopathy also reported.\r\n\r\nPatient-derived fibroblast studies demonstrates reduced OGDHC enzymatic activity, however, this functional evidence is not gene or variant-specific. \nSources: Literature",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T09:57:49.530441+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1081",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: 3 individuals from 2 unrelated families reported with biallelic MRPS36 variants (current HGNC is KGD4). Gene encodes E4 subunit of OGDHC complex. Individuals present with a phenotype consistent with Leigh syndrome including seizures, hypotonia, dystonia, brain imaging anomalies, persistent lactic acidosis and cardiomyopathy.\r\n\r\nPatient-derived fibroblast studies demonstrates reduced OGDHC enzymatic activity, however, this functional evidence is not gene or variant-specific. \r\nSources: Literature; to: 3 individuals from 2 unrelated families reported with biallelic MRPS36 variants (current HGNC is KGD4). Gene encodes E4 subunit of OGDHC complex. Individuals present with a phenotype consistent with Leigh syndrome including seizures, hypotonia, dystonia, brain imaging anomalies, persistent lactic acidosis. \r\nCardiomyopathy also reported.\r\n\r\nPatient-derived fibroblast studies demonstrates reduced OGDHC enzymatic activity, however, this functional evidence is not gene or variant-specific. \r\nSources: Literature",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T09:57:21.838074+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1081",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: 3 individuals with 2 unrelated families reported with biallelic MRPS36 variants (current HGNC is KGD4). Gene encodes E4 subunit of OGDHC complex. Individuals present with a phenotype consistent with Leigh syndrome including seizures, hypotonia, dystonia, brain imaging anomalies, persistent lactic acidosis and cardiomyopathy.\r\n\r\nPatient-derived fibroblast studies demonstrates reduced OGDHC enzymatic activity, however, this functional evidence is not gene or variant-specific. \nSources: Literature; to: 3 individuals from 2 unrelated families reported with biallelic MRPS36 variants (current HGNC is KGD4). Gene encodes E4 subunit of OGDHC complex. Individuals present with a phenotype consistent with Leigh syndrome including seizures, hypotonia, dystonia, brain imaging anomalies, persistent lactic acidosis and cardiomyopathy.\r\n\r\nPatient-derived fibroblast studies demonstrates reduced OGDHC enzymatic activity, however, this functional evidence is not gene or variant-specific. \r\nSources: Literature",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T09:57:19.408131+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1081",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: MRPS36 as Amber List (moderate evidence)",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T09:57:19.401890+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1081",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: mrps36 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T09:56:58.524675+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1080",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: MRPS36 as Amber List (moderate evidence)",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T09:56:58.514198+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1080",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: mrps36 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T09:56:51.631188+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1079",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: MRPS36 as ready",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T09:56:51.622381+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1079",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: mrps36 has been classified as Red List (Low Evidence).",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T09:55:32.810865+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1079",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MRPS36 was added\ngene: MRPS36 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: MRPS36 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPS36 were set to PMID: 41018056; 38685873\nPhenotypes for gene: MRPS36 were set to Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related\nReview for gene: MRPS36 was set to AMBER\nAdded comment: 3 individuals with 2 unrelated families reported with biallelic MRPS36 variants (current HGNC is KGD4). Gene encodes E4 subunit of OGDHC complex. Individuals present with a phenotype consistent with Leigh syndrome including seizures, hypotonia, dystonia, brain imaging anomalies, persistent lactic acidosis and cardiomyopathy.\r\n\r\nPatient-derived fibroblast studies demonstrates reduced OGDHC enzymatic activity, however, this functional evidence is not gene or variant-specific. \nSources: Literature",
"entity_name": "MRPS36",
"entity_type": "gene"
},
{
"created": "2025-10-07T08:49:48.918627+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.157",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: DMRT2 as Amber List (moderate evidence)",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-07T08:49:48.912398+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.157",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: dmrt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-07T08:49:34.114081+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.156",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: DMRT2 as Amber List (moderate evidence)",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-07T08:49:34.103790+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.156",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: dmrt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-07T08:41:09.561266+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3301",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "changed review comment from: CPD encodes carboxypeptidase D which is part of the metallocarboxylpeptidases family. These enzymes are zinc dependent and cleave c terminal arginine and lysine. Which in turn has a role in production of nitric oxide which is known to play role in the cochlea.\r\n\r\nPMID: 41026541 describes 5 individuals from 3 families with biallelic missense variants in CPD who have prelingual onset bilateral profound SNHL. No syndromic features were noted in affected probands.\r\nAll variants appropriately rare in gnomad v4 for a rare recessive disorder. \r\nNo homozygous loss of function variants in gene in gnomad v4. \r\nAll families consanguineous.\r\n\r\nFunctional studies demonstrated reduction in nitric oxide levels in patient cells as well as increased apoptosis with rescue upon introduction on L arginine. Proposed mechanism of disease is loss of function. \r\nDrosophila studies demonstrated disrupted Johnston’s organ morphology and impaired auditory transduction with partial rescue by arginine. Other supportive functional models discussed in paper. \r\n\r\nAuthors suggest potential treatment of affected individuals with arginine supplementation. \r\nSources: Literature; to: CPD encodes carboxypeptidase D which is part of the metallocarboxylpeptidases family. These enzymes are zinc dependent and cleave c terminal arginine and lysine. Which in turn has a role in production of nitric oxide which is known to assist in function of the cochlea.\r\n\r\nPMID: 41026541 describes 5 individuals from 3 families with biallelic missense variants in CPD who have prelingual onset bilateral profound SNHL. No syndromic features were noted in affected probands.\r\nAll variants appropriately rare in gnomad v4 for a rare recessive disorder. \r\nNo homozygous loss of function variants in gene in gnomad v4. \r\nAll families consanguineous.\r\n\r\nFunctional studies demonstrated reduction in nitric oxide levels in patient cells as well as increased apoptosis with rescue upon introduction on L arginine. Proposed mechanism of disease is loss of function. \r\nDrosophila studies demonstrated disrupted Johnston’s organ morphology and impaired auditory transduction with partial rescue by arginine. Other supportive functional models discussed in paper. \r\n\r\nAuthors suggest potential treatment of affected individuals with arginine supplementation. \r\nSources: Literature",
"entity_name": "CPD",
"entity_type": "gene"
},
{
"created": "2025-10-06T21:42:04.898792+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JPH2 as Green List (high evidence)",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2025-10-06T21:42:04.881553+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jph2 has been classified as Green List (High Evidence).",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2025-10-06T21:41:35.450493+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: JPH2: Added comment: STRONG by ClinGen.; Changed rating: GREEN",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2025-10-06T21:40:56.288725+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JPH2 as Green List (high evidence)",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2025-10-06T21:40:56.279646+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jph2 has been classified as Green List (High Evidence).",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2025-10-06T21:38:21.737764+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CPD as ready",
"entity_name": "CPD",
"entity_type": "gene"
},
{
"created": "2025-10-06T21:38:21.727855+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpd has been classified as Green List (High Evidence).",
"entity_name": "CPD",
"entity_type": "gene"
},
{
"created": "2025-10-06T21:38:13.549469+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CPD as Green List (high evidence)",
"entity_name": "CPD",
"entity_type": "gene"
},
{
"created": "2025-10-06T21:38:13.539743+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpd has been classified as Green List (High Evidence).",
"entity_name": "CPD",
"entity_type": "gene"
},
{
"created": "2025-10-06T21:22:45.905155+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DMRT2 as ready",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T21:22:45.895434+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dmrt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T21:22:04.900852+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DMRT2 as Amber List (moderate evidence)",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T21:22:04.894244+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dmrt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:43:58.758703+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THAP4 as ready",
"entity_name": "THAP4",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:43:58.751293+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thap4 has been classified as Red List (Low Evidence).",
"entity_name": "THAP4",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:43:49.839001+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: THAP4 was added\ngene: THAP4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: THAP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: THAP4 were set to 40949908\nPhenotypes for gene: THAP4 were set to Congenital pulmonary airway malformation, MONDO:0016580, THAP4-related\nReview for gene: THAP4 was set to RED\nAdded comment: Single individual with a missense variant reported in a CPAM cohort. \nSources: Literature",
"entity_name": "THAP4",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:42:27.694591+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THAP4 as ready",
"entity_name": "THAP4",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:42:27.681416+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thap4 has been classified as Red List (Low Evidence).",
"entity_name": "THAP4",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:42:19.643718+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: THAP4 was added\ngene: THAP4 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: THAP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: THAP4 were set to 40949908\nPhenotypes for gene: THAP4 were set to Congenital pulmonary airway malformation, MONDO:0016580, THAP4-related\nReview for gene: THAP4 was set to RED\nAdded comment: Single individual reported with missense variant in a CPAM cohort. \nSources: Literature",
"entity_name": "THAP4",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:37:49.334158+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH1B1 as ready",
"entity_name": "ALDH1B1",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:37:49.327180+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh1b1 has been classified as Red List (Low Evidence).",
"entity_name": "ALDH1B1",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:37:39.441856+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDH1B1 was added\ngene: ALDH1B1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ALDH1B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ALDH1B1 were set to 40988636\nPhenotypes for gene: ALDH1B1 were set to Congenital pulmonary airway malformation, MONDO:0016580, ALDH1B1-related\nReview for gene: ALDH1B1 was set to RED\nAdded comment: Single individual with missense variant reported in a CPAM cohort. \nSources: Literature",
"entity_name": "ALDH1B1",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:36:27.708498+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH1B1 as ready",
"entity_name": "ALDH1B1",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:36:27.693651+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh1b1 has been classified as Red List (Low Evidence).",
"entity_name": "ALDH1B1",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:36:17.317287+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDH1B1 was added\ngene: ALDH1B1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ALDH1B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ALDH1B1 were set to 40988636\nPhenotypes for gene: ALDH1B1 were set to Congenital pulmonary airway malformation, MONDO:0016580, ALDH1B1-related\nReview for gene: ALDH1B1 was set to RED\nAdded comment: Missense variant reported in a CPAM cohort. \nSources: Literature",
"entity_name": "ALDH1B1",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:28:57.350372+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MUC3A as ready",
"entity_name": "MUC3A",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:28:57.340279+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: muc3a has been classified as Red List (Low Evidence).",
"entity_name": "MUC3A",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:28:49.348238+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MUC3A was added\ngene: MUC3A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MUC3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MUC3A were set to 40949908\nPhenotypes for gene: MUC3A were set to Congenital pulmonary airway malformation, MONDO:0016580, MUC3A-related\nReview for gene: MUC3A was set to RED\nAdded comment: Three individuals with LoF variants identified in a CPAM cohort. However, all three variants are present in gnomAD, one of them in over 1500 individuals. \nSources: Literature",
"entity_name": "MUC3A",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:28:14.777553+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MUC3A were set to ",
"entity_name": "MUC3A",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:28:03.023631+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MUC3A: Changed publications: 40949908",
"entity_name": "MUC3A",
"entity_type": "gene"
}
]
}