{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=596","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=594","results":[{"created":"2023-06-01T11:51:17.077040+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.286","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: U2AF2 as ready","entity_name":"U2AF2","entity_type":"gene"},{"created":"2023-06-01T11:51:16.996949+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.286","user_name":"Elena Savva","item_type":"entity","text":"Gene: u2af2 has been removed from the panel.","entity_name":"U2AF2","entity_type":"gene"},{"created":"2023-06-01T11:51:10.314765+10:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.24","user_name":"Belinda Chong","item_type":"entity","text":"changed review comment from: Two unrelated families each segregating a different homozygous truncating variant in KIF26A with a unique constellation of severe megacolon that resembles Hirschsprung’s disease but lacks aganglionosis as well as brain malformations that range from severe to mild. The intestinal phenotype bears a striking resemblance to that observed in Kif26a−/− mice where KIF26A deficiency was found to cause abnormal GDNF-Ret signaling resulting in failure to establish normal neuronal networks despite myenteric neuronal hyperplasia. \nSources: Literature; to: Five individuals from two families each with a different homozygous truncating variant in KIF26A segregating with profound ENS dysfunction that manifested clinically like Hirschsprung’s disease despite normal ganglionosis. Moreover, they all have neurological involvement with brain malformations ranging from ventriculomegaly to severe congenital hydrocephalus in two siblings who died early in life. Clinically, they displayed developmental delay and, in the longest surviving individual, spastic paraplegia.","entity_name":"KIF26A","entity_type":"gene"},{"created":"2023-06-01T11:50:52.388718+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.302","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NPR1 as Red List (low evidence)","entity_name":"NPR1","entity_type":"gene"},{"created":"2023-06-01T11:50:52.388684+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1852","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: U2AF2 as Green List (high evidence)","entity_name":"U2AF2","entity_type":"gene"},{"created":"2023-06-01T11:50:52.372657+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.302","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: npr1 has been classified as Red List (Low Evidence).","entity_name":"NPR1","entity_type":"gene"},{"created":"2023-06-01T11:50:52.372495+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1852","user_name":"Elena Savva","item_type":"entity","text":"Gene: u2af2 has been classified as Green List (High Evidence).","entity_name":"U2AF2","entity_type":"gene"},{"created":"2023-06-01T11:49:55.552329+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.302","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: BICD2 as Amber List (moderate evidence)","entity_name":"BICD2","entity_type":"gene"},{"created":"2023-06-01T11:49:55.541864+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.302","user_name":"Ain Roesley","item_type":"entity","text":"Gene: bicd2 has been classified as Amber List (Moderate Evidence).","entity_name":"BICD2","entity_type":"gene"},{"created":"2023-06-01T11:49:48.822280+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.301","user_name":"Ee Ming Wong","item_type":"entity","text":"changed review comment from: - Fetus with severe hydrops fetalis (hydrops, hypoplastic lungs, fixed flexion deformities). Neuropathology suggests congenital myopathy or dystrophic process\r\n- Confirmed to be de novo for a missense variant in BICD2\r\n- Authors referenced a previous publication as additional evidence for BICD2 association with hydrops (PMID: 28635954). However, based on phenotypic information provided by Storbeck et al (2017) the reported individual did not have hydrops. \nSources: Literature; to: - Fetus with severe hydrops fetalis (hydrops, hypoplastic lungs, fixed flexion deformities). Neuropathology suggests congenital myopathy or dystrophic process\r\n- Confirmed to be de novo for a missense variant in BICD2\r\n- Authors referenced a previous publication as additional evidence for BICD2 association with hydrops (PMID: 28635954). However, based on phenotypic information provided by Storbeck et al (2017) the reported individual was not determined to have hydrops. \r\nSources: Literature","entity_name":"BICD2","entity_type":"gene"},{"created":"2023-06-01T11:49:30.499119+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1852","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: U2AF2 as Green List (high evidence)","entity_name":"U2AF2","entity_type":"gene"},{"created":"2023-06-01T11:49:30.481346+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1852","user_name":"Elena Savva","item_type":"entity","text":"Gene: u2af2 has been classified as Green List (High Evidence).","entity_name":"U2AF2","entity_type":"gene"},{"created":"2023-06-01T11:48:42.154387+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.301","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: BICD2 as Amber List (moderate evidence)","entity_name":"BICD2","entity_type":"gene"},{"created":"2023-06-01T11:48:42.141983+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.301","user_name":"Ain Roesley","item_type":"entity","text":"Gene: bicd2 has been classified as Amber List (Moderate Evidence).","entity_name":"BICD2","entity_type":"gene"},{"created":"2023-06-01T11:48:39.129256+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.300","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: BICD2 as ready","entity_name":"BICD2","entity_type":"gene"},{"created":"2023-06-01T11:48:39.096515+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.300","user_name":"Ain Roesley","item_type":"entity","text":"Gene: bicd2 has been removed from the panel.","entity_name":"BICD2","entity_type":"gene"},{"created":"2023-06-01T11:48:30.882908+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5239","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: ACBD6 as Green List (high evidence)","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-06-01T11:48:30.867872+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5239","user_name":"Elena Savva","item_type":"entity","text":"Gene: acbd6 has been classified as Green List (High Evidence).","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-06-01T11:48:21.986032+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1851","user_name":"Krithika Murali","item_type":"entity","text":"gene: UNC79 was added\ngene: UNC79 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: UNC79 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UNC79 were set to PMID:37183800\nPhenotypes for gene: UNC79 were set to Complex neurodevelopmental disorder - MONDO:0100038\nReview for gene: UNC79 was set to AMBER\nAdded comment: PMID:37183800 Bayat et al 2023 report 6 unrelated patients with heterozygous NMD-predicted LoF variants in UNC79 - x1 canonical splice site variant, x5 nonsense/frameshift. 5 were confirmed de novo, 1 not identified in mother - father unavailable for testing.  All variants absent in gnomAD and v2 pLI score for UNC79 is 1.\r\n\r\nPatients with UNC79 variants were identified through GeneMatcher or an international network of Epilepsy and Genetics departments. x1 patient underwent duo exome sequencing, remaining had trio exome sequencing  - no other causative variants identified.\r\n\r\nPhenotypic features included:\r\n- 4/6 autistic features\r\n- 5/6 patients mild-moderate ID\r\n- 4/6 behavioural issues (aggression, stereotypies) \r\n- 4/6  epilepsy (focal to bilateral tonic-clonic seizures)\r\n- 5/6 hypotonia\r\n\r\nunc79 knockdown drosophila flies exhibited significantly higher rate of seizure-like behaviour than controls. unc79 haploinsufficiency shown to lead to significant reduction in protein levels of both unc79 and unc80 in mouse brains anddeficiency in hippocampal-dependent learning and memory in mice.\r\n\r\nAuthors have reviewed their own evidence in relation to the gene-disease criteria detailed by Strande et al 2017 and note that their clinical and experimental data provides moderate-level evidence supporting the association between UNC79 and a neurodevelopment disorder\r\nincluding ASD.\r\n\r\nEvidence emerging is promising, however Amber association favoured due to clinical phenotypic range reported between affected individuals and their lack of specificity. \nSources: Literature","entity_name":"UNC79","entity_type":"gene"},{"created":"2023-06-01T11:48:04.275043+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.904","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPR1 as ready","entity_name":"NPR1","entity_type":"gene"},{"created":"2023-06-01T11:48:04.249526+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.904","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: npr1 has been classified as Green List (High Evidence).","entity_name":"NPR1","entity_type":"gene"},{"created":"2023-06-01T11:48:03.900671+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5237","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: ACBD6 as Green List (high evidence)","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-06-01T11:48:03.890748+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5237","user_name":"Elena Savva","item_type":"entity","text":"Gene: acbd6 has been classified as Green List (High Evidence).","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-06-01T11:47:41.491069+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.904","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NPR1 as Green List (high evidence)","entity_name":"NPR1","entity_type":"gene"},{"created":"2023-06-01T11:47:41.479503+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.904","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: npr1 has been classified as Green List (High Evidence).","entity_name":"NPR1","entity_type":"gene"},{"created":"2023-06-01T11:47:12.359486+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5236","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: POU3F2 as Green List (high evidence)","entity_name":"POU3F2","entity_type":"gene"},{"created":"2023-06-01T11:47:12.349309+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5236","user_name":"Ain Roesley","item_type":"entity","text":"Gene: pou3f2 has been classified as Green List (High Evidence).","entity_name":"POU3F2","entity_type":"gene"},{"created":"2023-06-01T11:47:09.194229+10:00","panel_name":"Hypertension and Aldosterone disorders","panel_id":190,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPR1 as ready","entity_name":"NPR1","entity_type":"gene"},{"created":"2023-06-01T11:47:09.152859+10:00","panel_name":"Hypertension and Aldosterone disorders","panel_id":190,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: npr1 has been classified as Green List (High Evidence).","entity_name":"NPR1","entity_type":"gene"},{"created":"2023-06-01T11:47:03.973457+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.903","user_name":"Anna Ritchie","item_type":"entity","text":"gene: MRPL50 was added\ngene: MRPL50 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MRPL50 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPL50 were set to PMID: 37148394\nPhenotypes for gene: MRPL50 were set to Mitochondrial disease, MONDO: 004470, MRPL50-related\nAdded comment: A homozygous missense variant (c.335T>A; p.Val112Asp) shared by twin sisters presenting with premature ovarian insufficiency, bilateral high-frequency sensorineural hearing loss, kidney and heart dysfunction. \r\nQuantitative proteomics data demonstrated a significant reduction in abundance of MRPL50 protein when compared with controls. \r\nPatient fibroblasts have a mild but significant decrease in the abundance of mitochondrial complex I. This data supports a biochemical phenotype associated with MRPL50 variants. \r\nKnockdown/knockout of mRpL50 in Drosophila, resulted abnormal ovarian development. \nSources: Literature","entity_name":"MRPL50","entity_type":"gene"},{"created":"2023-06-01T11:47:01.307156+10:00","panel_name":"Hypertension and Aldosterone disorders","panel_id":190,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NPR1 as Green List (high evidence)","entity_name":"NPR1","entity_type":"gene"},{"created":"2023-06-01T11:47:01.283078+10:00","panel_name":"Hypertension and Aldosterone disorders","panel_id":190,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: npr1 has been classified as Green List (High Evidence).","entity_name":"NPR1","entity_type":"gene"},{"created":"2023-06-01T11:46:55.274115+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.310","user_name":"Anna Ritchie","item_type":"entity","text":"gene: MRPL50 was added\ngene: MRPL50 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: MRPL50 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPL50 were set to PMID: 37148394\nPhenotypes for gene: MRPL50 were set to Mitochondrial disease, MONDO: 004470, MRPL50-related\nReview for gene: MRPL50 was set to AMBER\nAdded comment: A homozygous missense variant (c.335T>A; p.Val112Asp) shared by twin sisters presenting with premature ovarian insufficiency, bilateral high-frequency sensorineural hearing loss, kidney and heart dysfunction. \r\nQuantitative proteomics data demonstrated a significant reduction in abundance of MRPL50 protein when compared with controls. \r\nPatient fibroblasts have a mild but significant decrease in the abundance of mitochondrial complex I. This data supports a biochemical phenotype associated with MRPL50 variants. \r\nKnockdown/knockout of mRpL50 in Drosophila, resulted abnormal ovarian development. \nSources: Literature","entity_name":"MRPL50","entity_type":"gene"},{"created":"2023-06-01T11:46:53.104531+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5236","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092)","entity_name":"U2AF2","entity_type":"gene"},{"created":"2023-06-01T11:46:51.426553+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1851","user_name":"Karina Sandoval","item_type":"entity","text":"gene: ANK2 was added\ngene: ANK2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANK2 were set to PMID:37195288\nPhenotypes for gene: ANK2 were set to Epilepsy, MONDO:0005027, Complex neurodevelopmental disorder, MONDO:0100038\nReview for gene: ANK2 was set to GREEN\nAdded comment: Paper included 12 individuals with LoF variants. 11 were confirmed de novo. Paper found broad NND comprising of ID, ASD and early onset epilepsy, both mild and severed ID & epilepsy. \r\nVariants included 4 nonsense, 3 fs, 3 canonical splice, and 2 partial gene dels.\r\nEarly childhood epilepsy was reported in 7 of 12 patients. 4 patients had neonatal onset epilepsy. 1 patient had bilateral tonic-clinic seizures at 3 years of age. Another patient had focal epilepsy with focal motor seizures. \nSources: Literature","entity_name":"ANK2","entity_type":"gene"},{"created":"2023-06-01T11:46:42.475755+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.874","user_name":"Anna Ritchie","item_type":"entity","text":"gene: MRPL50 was added\ngene: MRPL50 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: MRPL50 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPL50 were set to PMID: 37148394\nPhenotypes for gene: MRPL50 were set to Mitochondrial disease, MONDO: 004470, MRPL50-related\nReview for gene: MRPL50 was set to AMBER\nAdded comment: A homozygous missense variant (c.335T>A; p.Val112Asp) shared by twin sisters presenting with premature ovarian insufficiency, bilateral high-frequency sensorineural hearing loss, kidney and heart dysfunction. \r\nQuantitative proteomics data demonstrated a significant reduction in abundance of MRPL50 protein when compared with controls. \r\nPatient fibroblasts have a mild but significant decrease in the abundance of mitochondrial complex I. This data supports a biochemical phenotype associated with MRPL50 variants. \r\nKnockdown/knockout of mRpL50 in Drosophila, resulted abnormal ovarian development. \nSources: Literature","entity_name":"MRPL50","entity_type":"gene"},{"created":"2023-06-01T11:46:30.180062+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5238","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: POU3F2 were changed from Autism spectrum disorder, NDD, and adolescent-onset obesity; neurodevelopmental disorder MONDO:0700092, POU3F2-related to Autism spectrum disorder, NDD, and adolescent-onset obesity; neurodevelopmental disorder MONDO:0700092, POU3F2-related","entity_name":"POU3F2","entity_type":"gene"},{"created":"2023-06-01T11:46:13.307335+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5238","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ACBD6 as ready","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-06-01T11:46:13.295272+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5238","user_name":"Elena Savva","item_type":"entity","text":"Gene: acbd6 has been classified as Green List (High Evidence).","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-06-01T11:46:12.047189+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5238","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MCM6 as Green List (high evidence)","entity_name":"MCM6","entity_type":"gene"},{"created":"2023-06-01T11:46:12.030573+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5238","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcm6 has been classified as Green List (High Evidence).","entity_name":"MCM6","entity_type":"gene"},{"created":"2023-06-01T11:46:03.086611+10:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.24","user_name":"Belinda Chong","item_type":"entity","text":"gene: KIF26A was added\ngene: KIF26A was added to Hirschsprung disease. Sources: Literature\nMode of inheritance for gene: KIF26A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF26A were set to 36564622\nPhenotypes for gene: KIF26A were set to Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156\nReview for gene: KIF26A was set to GREEN\ngene: KIF26A was marked as current diagnostic\nAdded comment: Two unrelated families each segregating a different homozygous truncating variant in KIF26A with a unique constellation of severe megacolon that resembles Hirschsprung’s disease but lacks aganglionosis as well as brain malformations that range from severe to mild. The intestinal phenotype bears a striking resemblance to that observed in Kif26a−/− mice where KIF26A deficiency was found to cause abnormal GDNF-Ret signaling resulting in failure to establish normal neuronal networks despite myenteric neuronal hyperplasia. \nSources: Literature","entity_name":"KIF26A","entity_type":"gene"},{"created":"2023-06-01T11:45:50.271419+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5238","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: ACBD6 as Green List (high evidence)","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-06-01T11:45:50.244001+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5238","user_name":"Elena Savva","item_type":"entity","text":"Gene: acbd6 has been classified as Green List (High Evidence).","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-06-01T11:45:22.680020+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5237","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: POU3F2 were changed from Autism spectrum disorder, NDD, and adolescent-onset obesity; neurodevelopmental disorder MONDO:0700092, POU3F2-related to Autism spectrum disorder, NDD, and adolescent-onset obesity; neurodevelopmental disorder MONDO:0700092, POU3F2-related","entity_name":"POU3F2","entity_type":"gene"},{"created":"2023-06-01T11:45:21.466458+10:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.8","user_name":"Lucy Spencer","item_type":"entity","text":"gene: ACBD6 was added\ngene: ACBD6 was added to Severe early-onset obesity. Sources: Literature\nMode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACBD6 were set to 36457943; 21937992; 35446914\nPhenotypes for gene: ACBD6 were set to Neurodevelopmental disorder (MONDO#0700092), ACBD6-related\nReview for gene: ACBD6 was set to AMBER\nAdded comment: PMID: 36457943\r\n2 siblings with a neurodevelopmental disorder: severely delayed development, obesity, pancytopenia, diabetes, liver cirrhosis, intravertebral disc herniation, mild brain atrophy. Consanguineous family both siblings found to have a homozygous frameshift.\r\n\r\nThis paper also mentioned 3 other reported variants in 6 individuals (only 3 unrelated) all homozygous, 2 frameshift, 1 canonical splice. All reported to have a neurodevelopmental disorder, some with limited information but one family also has obesity, spasticity, and dysmorphism. PMIDs: 21937992, 35446914 \nSources: Literature","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-06-01T11:45:01.212504+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5237","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092)","entity_name":"U2AF2","entity_type":"gene"},{"created":"2023-06-01T11:44:41.674192+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5236","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MCM6 as Green List (high evidence)","entity_name":"MCM6","entity_type":"gene"},{"created":"2023-06-01T11:44:41.656880+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5236","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcm6 has been classified as Green List (High Evidence).","entity_name":"MCM6","entity_type":"gene"},{"created":"2023-06-01T11:44:21.774271+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5236","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MCM6 as Green List (high evidence)","entity_name":"MCM6","entity_type":"gene"},{"created":"2023-06-01T11:44:21.750211+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5236","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcm6 has been classified as Green List (High Evidence).","entity_name":"MCM6","entity_type":"gene"},{"created":"2023-06-01T11:44:12.776757+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.903","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: POU3F2 as ready","entity_name":"POU3F2","entity_type":"gene"},{"created":"2023-06-01T11:44:12.766286+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.903","user_name":"Ain Roesley","item_type":"entity","text":"Gene: pou3f2 has been classified as Green List (High Evidence).","entity_name":"POU3F2","entity_type":"gene"},{"created":"2023-06-01T11:44:06.309835+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.903","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ACBD6 as ready","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-06-01T11:44:06.266948+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.903","user_name":"Elena Savva","item_type":"entity","text":"Gene: acbd6 has been classified as Green List (High Evidence).","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-06-01T11:43:57.966932+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5237","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: POU3F2 were changed from Autism spectrum disorder, NDD, and adolescent-onset obesity; neurodevelopmental disorder MONDO:0700092, POU3F2-related to Autism spectrum disorder, NDD, and adolescent-onset obesity; neurodevelopmental disorder MONDO:0700092, POU3F2-related","entity_name":"POU3F2","entity_type":"gene"},{"created":"2023-06-01T11:43:47.990502+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.903","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ACBD6 as ready","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-06-01T11:43:47.977858+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.903","user_name":"Elena Savva","item_type":"entity","text":"Gene: acbd6 has been classified as Green List (High Evidence).","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-06-01T11:43:38.371764+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.903","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: POU3F2 as Green List (high evidence)","entity_name":"POU3F2","entity_type":"gene"},{"created":"2023-06-01T11:43:38.359337+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.903","user_name":"Ain Roesley","item_type":"entity","text":"Gene: pou3f2 has been classified as Green List (High Evidence).","entity_name":"POU3F2","entity_type":"gene"},{"created":"2023-06-01T11:43:37.467890+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.24","user_name":"Hazel Phillimore","item_type":"entity","text":"gene: TOPORS was added\ngene: TOPORS was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature\nMode of inheritance for gene: TOPORS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOPORS were set to PMID: 37227088; 34132027\nPhenotypes for gene: TOPORS were set to macrocephaly; hypertelorism; down-slanting palpebral fissures; ptosis; polydactyly; respiratory failure; severe developmental delay\nReview for gene: TOPORS was set to AMBER\nAdded comment: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416.\r\nClinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome.\r\nAppears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent. Regions of homozygosity found in these three probands. \nSources: Literature","entity_name":"TOPORS","entity_type":"gene"},{"created":"2023-06-01T11:43:17.359619+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.489","user_name":"Paul De Fazio","item_type":"entity","text":"gene: U2AF2 was added\ngene: U2AF2 was added to Callosome. Sources: Literature\nMode of inheritance for gene: U2AF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: U2AF2 were set to 34112922; 37092751; 36747105; 37134193\nPhenotypes for gene: U2AF2 were set to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092)\nReview for gene: U2AF2 was set to AMBER\ngene: U2AF2 was marked as current diagnostic\nAdded comment: 4 patients with de novo missense variants reported, of which 2 had hypoplastic corpus callosum (PMID: 34112922, 36747105). \nSources: Literature","entity_name":"U2AF2","entity_type":"gene"},{"created":"2023-06-01T11:43:01.258608+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.902","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: ACBD6 as Green List (high evidence)","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-06-01T11:43:01.194116+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.902","user_name":"Elena Savva","item_type":"entity","text":"Gene: acbd6 has been classified as Green List (High Evidence).","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-06-01T11:42:59.652971+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.902","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: ACBD6 as Green List (high evidence)","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-06-01T11:42:59.591672+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.902","user_name":"Elena Savva","item_type":"entity","text":"Gene: acbd6 has been classified as Green List (High Evidence).","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-06-01T11:42:53.270283+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.901","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ACBD6 as ready","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-06-01T11:42:53.257982+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.901","user_name":"Elena Savva","item_type":"entity","text":"Gene: acbd6 has been classified as Green List (High Evidence).","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-06-01T11:42:50.200279+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5237","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: POU3F2 were changed from Autism spectrum disorder, NDD, and adolescent-onset obesity to Autism spectrum disorder, NDD, and adolescent-onset obesity; neurodevelopmental disorder MONDO:0700092, POU3F2-related","entity_name":"POU3F2","entity_type":"gene"},{"created":"2023-06-01T11:42:41.869281+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.901","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: POU3F2 were changed from Autism spectrum disorder, NDD, and adolescent-onset obesity to Autism spectrum disorder, NDD, and adolescent-onset obesity; neurodevelopmental disorder MONDO:0700092, POU3F2-related","entity_name":"POU3F2","entity_type":"gene"},{"created":"2023-06-01T11:42:32.547470+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.901","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: ACBD6 as Green List (high evidence)","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-06-01T11:42:32.473841+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.901","user_name":"Elena Savva","item_type":"entity","text":"Gene: acbd6 has been classified as Green List (High Evidence).","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-06-01T11:42:29.403882+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.286","user_name":"Paul De Fazio","item_type":"entity","text":"gene: U2AF2 was added\ngene: U2AF2 was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: U2AF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: U2AF2 were set to 34112922; 37092751; 36747105; 37134193\nPhenotypes for gene: U2AF2 were set to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092)\nReview for gene: U2AF2 was set to RED\ngene: U2AF2 was marked as current diagnostic\nAdded comment: 4 patients with de novo missense variants reported, however only one report (PMID: 37134193) of hymomyelinating leukodystrophy. \nSources: Literature","entity_name":"U2AF2","entity_type":"gene"},{"created":"2023-06-01T11:42:27.537693+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.901","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MCM6 were set to ","entity_name":"MCM6","entity_type":"gene"},{"created":"2023-06-01T11:42:15.688070+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.300","user_name":"Lilian Downie","item_type":"entity","text":"changed review comment from: single family (4 affected infants) with neonatal hypertension/cardiogenic shock \r\n3/4 sibs had NT >3.5 \nSources: Literature; to: single family (4 affected infants) with neonatal hypertension/cardiogenic shock \r\n3/4 sibs had NT >3.5 \r\n a slight reduction in the expected number of homozygous\r\nNpr1 knockout mutant mice was statistically significant and\r\nis related to fetal hydrops observed in approximately 10% of\r\nhomozygous embryos\r\n\r\nSources: Literature","entity_name":"NPR1","entity_type":"gene"},{"created":"2023-06-01T11:42:04.873071+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5235","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: POU3F2 as Green List (high evidence)","entity_name":"POU3F2","entity_type":"gene"},{"created":"2023-06-01T11:42:04.824016+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5235","user_name":"Ain Roesley","item_type":"entity","text":"Gene: pou3f2 has been classified as Green List (High Evidence).","entity_name":"POU3F2","entity_type":"gene"},{"created":"2023-06-01T11:41:45.761045+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5236","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: POU3F2 as ready","entity_name":"POU3F2","entity_type":"gene"},{"created":"2023-06-01T11:41:45.723597+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5236","user_name":"Ain Roesley","item_type":"entity","text":"Gene: pou3f2 has been classified as Green List (High Evidence).","entity_name":"POU3F2","entity_type":"gene"},{"created":"2023-06-01T11:41:32.008889+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5236","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: U2AF2 as Green List (high evidence)","entity_name":"U2AF2","entity_type":"gene"},{"created":"2023-06-01T11:41:31.994197+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5236","user_name":"Elena Savva","item_type":"entity","text":"Gene: u2af2 has been classified as Green List (High Evidence).","entity_name":"U2AF2","entity_type":"gene"},{"created":"2023-06-01T11:41:12.793006+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1851","user_name":"Dean Phelan","item_type":"entity","text":"reviewed gene: RNH1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37191094; Phenotypes: encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RNH1","entity_type":"gene"},{"created":"2023-06-01T11:41:05.169522+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.900","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MCM6 were changed from Lactase persistence/nonpersistence 223100 to Neurodevelopmental disorder, MONDO:0700092, MCM6-related; Lactase persistence/nonpersistence 223100","entity_name":"MCM6","entity_type":"gene"},{"created":"2023-06-01T11:41:02.347826+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.300","user_name":"Ee Ming Wong","item_type":"entity","text":"gene: BICD2 was added\ngene: BICD2 was added to Hydrops fetalis. Sources: Literature\nMode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BICD2 were set to 37173812\nPhenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant 2B, prenatal-onset (MIM#609797)\nReview for gene: BICD2 was set to AMBER\ngene: BICD2 was marked as current diagnostic\nAdded comment: - Fetus with severe hydrops fetalis (hydrops, hypoplastic lungs, fixed flexion deformities). Neuropathology suggests congenital myopathy or dystrophic process\r\n- Confirmed to be de novo for a missense variant in BICD2\r\n- Authors referenced a previous publication as additional evidence for BICD2 association with hydrops (PMID: 28635954). However, based on phenotypic information provided by Storbeck et al (2017) the reported individual did not have hydrops. \nSources: Literature","entity_name":"BICD2","entity_type":"gene"},{"created":"2023-06-01T11:40:33.759884+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5236","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: POU3F2 as Green List (high evidence)","entity_name":"POU3F2","entity_type":"gene"},{"created":"2023-06-01T11:40:33.751571+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5236","user_name":"Ain Roesley","item_type":"entity","text":"Gene: pou3f2 has been classified as Green List (High Evidence).","entity_name":"POU3F2","entity_type":"gene"},{"created":"2023-06-01T11:40:06.850230+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5235","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092)","entity_name":"U2AF2","entity_type":"gene"},{"created":"2023-06-01T11:39:49.559832+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.207","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MCM6 as Amber List (moderate evidence)","entity_name":"MCM6","entity_type":"gene"},{"created":"2023-06-01T11:39:49.486260+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.207","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcm6 has been classified as Amber List (Moderate Evidence).","entity_name":"MCM6","entity_type":"gene"},{"created":"2023-06-01T11:39:47.376760+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5235","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder MONDO:0700092, MMGT1-related to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092)","entity_name":"U2AF2","entity_type":"gene"},{"created":"2023-06-01T11:38:48.962035+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.899","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MCM6 as Green List (high evidence)","entity_name":"MCM6","entity_type":"gene"},{"created":"2023-06-01T11:38:48.947812+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.899","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcm6 has been classified as Green List (High Evidence).","entity_name":"MCM6","entity_type":"gene"},{"created":"2023-06-01T11:38:38.081108+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.206","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MCM6 as ready","entity_name":"MCM6","entity_type":"gene"},{"created":"2023-06-01T11:38:38.072340+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.898","user_name":"Lilian Downie","item_type":"entity","text":"gene: NPR1 was added\ngene: NPR1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NPR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NPR1 were set to PMID: 37080586\nPhenotypes for gene: NPR1 were set to Genetic hypertension MONDO:0015512\nReview for gene: NPR1 was set to GREEN\nAdded comment: 4 sibs with systemic hypertension in the neonatal period - presenting with cardiogenic shock, with homozygous variants (consanguineous parents), parents confirmed heterozygotes. 3/4 infants had increased NT (>3.5) in utero \r\nRT-PCR shows dramatic reduction of RNA levels \r\n2 sibs in a second family, normal NT and pregnancy, neonatal systematic hypertension presenting with cardiogenic shock, \nSources: Literature","entity_name":"NPR1","entity_type":"gene"},{"created":"2023-06-01T11:38:38.071953+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.206","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcm6 has been classified as Amber List (Moderate Evidence).","entity_name":"MCM6","entity_type":"gene"},{"created":"2023-06-01T11:38:30.970991+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.206","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MCM6 as Amber List (moderate evidence)","entity_name":"MCM6","entity_type":"gene"},{"created":"2023-06-01T11:38:30.956787+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.206","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcm6 has been classified as Amber List (Moderate Evidence).","entity_name":"MCM6","entity_type":"gene"},{"created":"2023-06-01T11:38:07.763291+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5235","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: U2AF2 were set to 33057194","entity_name":"U2AF2","entity_type":"gene"},{"created":"2023-06-01T11:37:56.096508+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.206","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MCM6 as Amber List (moderate evidence)","entity_name":"MCM6","entity_type":"gene"},{"created":"2023-06-01T11:37:56.084460+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.206","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcm6 has been classified as Amber List (Moderate Evidence).","entity_name":"MCM6","entity_type":"gene"}]}