{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=272","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=270","results":[{"created":"2025-04-09T09:09:08.874602+10:00","panel_name":"Cardiac conduction disease","panel_id":4422,"panel_version":"0.32","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TRPM4 was added\ngene: TRPM4 was added to Cardiac conduction disease. Sources: NHS GMS\nMode of inheritance for gene: TRPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRPM4 were set to 19726882; 26820365; 21887725; 32681584; 20562447; 25531103; 27207958; 29568272; 29748318; 36352534; 35205305\nPhenotypes for gene: TRPM4 were set to progressive familial heart block type IB MONDO:0011474\nMode of pathogenicity for gene: TRPM4 was set to Other\nReview for gene: TRPM4 was set to AMBER\nAdded comment: A lot of the originally reported variants are more common in gnomAD than is expected for a dominant condition. However, there are at least 2 families that have decent segregation evidence and that suggest gain of function is the mechanism of disease. Loss of function variants are common in gnomAD.\r\nPublications that contribute to gene-disease association:\r\nPMID: 19726882 - linkage analysis in a large South African Afrikaner family with progressive familial heart block identified linkage to chromosomal locus 19q13.3. p.E7K was found to segregate with PFHB in the family. The variant was found to lead to a gain of function. The variant is rare in gnomAD v4 - 2 hets.\r\nPMID: 26820365 - identified 13 “rare” TRPM4 variants in 95 unrelated patients with progressive cardiac conduction disease (PCCD). Some of the variants are a bit too common in gnomAD to be associated with dominant disease. One of the variants (p.Ile376Thr - 3 hets in gnomAD v4) segregated with PCCD in a large French 4-generation pedigree. TRPM4-p.I376T results in an increased current density in patch-clamp assays & augmented TRPM4 channel expression at the cell surface.\r\nPMID: 21887725 - 8 “rare” TRPM4 variants identified in 160 cases with cardiac conduction disturbances. 3 of the variants had some supporting segregation evidence (Y790H - 3 segs, P970S - 1 seg, K914R - 1 seg)\r\nPMID: 32681584 - in vitro functional assays on K914R which demonstrate a gain of function\r\nPublications with uncertainty:\r\nPMID: 20562447 - 3 families with dominant isolated cardiac conduction blocks were used for linkage analysis and a genomic interval on the long arm of chromosome 19 in an interval of ~300 genes. Screened 12 genes. TRPM4 p.Ala432Thr  (L1 family), p.Arg164Trp (F1 family), p.Gly844Asp (F2 family). Ala432Thr and Gly844Asp are too common in gnomAD for a Mendelian AD disease (see below). Incomplete penetrance for p.Arg164Trp in family F1. All 3 variants increased current density in patch-clamp assays compared to WT (p<0.05).\r\nPMID: 25531103 - null mouse model has cardiac hypertrophy and electrophysiological alterations \r\nPMID: 27207958 - “rare” missense variants identified in children with atrioventricular block. Asp198Gly (2 hets in gnomAD v4), Ala432Thr/Gly582Ser present in 2 families (A432T - 558 alleles, 5 homs; G582S - 604 alleles, 7 homs in gnomAD v4) and also carried variants in SCN5 & NKX2.5, Thr677Ile (1 het in gnomAD v4), Val921Ile (101 alleles, 1 hom in gnomAD v4). Ala432Thr/Gly582Ser demonstrated loss of function in patch clamp assay - A432T alone was LoF, while G582S alone was GoF. D198G, T677I, and V921I didn’t alter function in the assays\r\nPMID: 29568272 - p.A101T (3299 alleles, 51 homs), p.Q854R (1610 alleles, 5 homs), p.S1044C (7 hets), p.A101T/P1204L (5013 alleles, 11 homs). In patch-clamp assays, all variants reduced current except Q854R\twhich increased the current (GoF)\r\nPMID: 29748318 - synonymous variant c.858G>A shown to  lead to exon 7 skipping, expected to cause loss of function identified in 2 siblings with cardiac conduction defects. It was inherited from apparently unaffected mother\r\nPMID: 36352534, 35205305 - both report TRPM4 c.2351G>A, p.Gly844Asp in association with conduction disease. However, the variant is highly prevalent in gnomAD v4 (2200 alleles, 1 homozygote) \nSources: NHS GMS","entity_name":"TRPM4","entity_type":"gene"},{"created":"2025-04-08T20:23:29.788174+10:00","panel_name":"Cardiac conduction disease","panel_id":4422,"panel_version":"0.31","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TBX5 as ready","entity_name":"TBX5","entity_type":"gene"},{"created":"2025-04-08T20:23:29.763657+10:00","panel_name":"Cardiac conduction disease","panel_id":4422,"panel_version":"0.31","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tbx5 has been classified as Green List (High Evidence).","entity_name":"TBX5","entity_type":"gene"},{"created":"2025-04-08T20:23:22.695350+10:00","panel_name":"Cardiac conduction disease","panel_id":4422,"panel_version":"0.31","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TBX5 as Green List (high evidence)","entity_name":"TBX5","entity_type":"gene"},{"created":"2025-04-08T20:23:22.688270+10:00","panel_name":"Cardiac conduction disease","panel_id":4422,"panel_version":"0.31","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tbx5 has been classified as Green List (High Evidence).","entity_name":"TBX5","entity_type":"gene"},{"created":"2025-04-08T20:23:14.977842+10:00","panel_name":"Cardiac conduction disease","panel_id":4422,"panel_version":"0.30","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TBX5 was added\ngene: TBX5 was added to Cardiac conduction disease. Sources: NHS GMS\nMode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TBX5 were set to 20301290\nPhenotypes for gene: TBX5 were set to Holt-Oram syndrome MONDO:0007732\nReview for gene: TBX5 was set to GREEN\ngene: TBX5 was marked as current diagnostic\nAdded comment: Conduction disease is a characteristic feature of the condition. \nSources: NHS GMS","entity_name":"TBX5","entity_type":"gene"},{"created":"2025-04-08T20:18:19.659831+10:00","panel_name":"Cardiac conduction disease","panel_id":4422,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SCN1B as ready","entity_name":"SCN1B","entity_type":"gene"},{"created":"2025-04-08T20:18:19.650076+10:00","panel_name":"Cardiac conduction disease","panel_id":4422,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: scn1b has been classified as Amber List (Moderate Evidence).","entity_name":"SCN1B","entity_type":"gene"},{"created":"2025-04-08T20:17:21.482500+10:00","panel_name":"Cardiac conduction disease","panel_id":4422,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SCN1B as Amber List (moderate evidence)","entity_name":"SCN1B","entity_type":"gene"},{"created":"2025-04-08T20:17:21.475071+10:00","panel_name":"Cardiac conduction disease","panel_id":4422,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: scn1b has been classified as Amber List (Moderate Evidence).","entity_name":"SCN1B","entity_type":"gene"},{"created":"2025-04-08T20:17:12.199561+10:00","panel_name":"Cardiac conduction disease","panel_id":4422,"panel_version":"0.28","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SCN1B was added\ngene: SCN1B was added to Cardiac conduction disease. Sources: NHS GMS\nMode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SCN1B were set to 19808477; 18464934; 28878239; 29758173\nPhenotypes for gene: SCN1B were set to Heart conduction disease MONDO:0000992\nReview for gene: SCN1B was set to AMBER\nAdded comment: This gene is disputed for Brugada syndrome. There is a single family reported with decent segregation evidence of a missense variant (p.Glu87Gln) with conduction disease, and another missense that has been reported in a case with AF, that has been reported as pathogenic for epilepsy.\r\nPMID: 19808477 - R85H (8 hets in gnomAD v4) identified in a case with atrial fibrillation. This variant has also been reported in patients with GEFS and is reported LP/P in ClinVar. D153N (277 hets in gnomAD v4) also identified in a case with AF, but the variant is classified as a VUS.\r\nPMID: 18464934 - Glu87Gln (3 hets in gnomAD v4) identified in a Turkish family with 2 siblings with conduction abnormalities, inherited from mother with no cardiac phenotype (later determined to have clinical atrioventricular nodal reentry tachycardia in PMID: 29758173). c.536G>A Trp179Ter in beta1B transcript (NM_001037.5:c.448+88G>A - 44 hets gnomAD v4) identified in a family with conduction disease (3 affected cases & 1 unaffected individual). c.537G>A p.Trp179Ter (NM_001037.5(SCN1B):c.448+89G>A - 1 het in gnomAD v4) identified in fam 3 - 1 affected case & 1 unaffected individual. Haploinsufficiency is the suggested mechanism of disease supported by electrophysiologic data.\r\nPMID: 28878239 - in vitro functional assays suggesting Glu87Gln reduces sodium channel function.\r\nPMID: 29758173 - study suggesting p.Trp179Ter is not associated with disease, but has updated information for the Turkish family with p.Glu87Gln strengthening the segregation of the variant with conduction disease \nSources: NHS GMS","entity_name":"SCN1B","entity_type":"gene"},{"created":"2025-04-08T20:14:53.231010+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2443","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"changed review comment from: PMID: 39432785 (upgraded to GREEN on leukodystrophy panel)\r\n3 unrelated probands with variable neurological features presenting in childhood however only two presented with leukodystrophy like symptoms \r\nPatient 1 (canadian) and 3 (USA) showed bilateral hypomyelination on brain MRI\r\n\r\nPMID: 40185629 - refractory focal epilepsy (AMBER for epilepsy)\r\nchinese probands - childhood cases \r\nDe novo missense variants were identified in the two unrelated probands of chinese descent\r\nCase 1 - female patient experiencing epileptic seizures from the age of 4 - Lys812Ile\r\nCase 2 - male patient experienceing epileptic seizures from the age of 7 - Trp1036Cys; to: PMID: 39432785 (upgraded to GREEN on leukodystrophy panel)\r\n3 unrelated probands with variable neurological features presenting in childhood however only two presented with leukodystrophy like symptoms \r\nPatient 1 (canadian) and 3 (USA) showed bilateral hypomyelination on brain MRI\r\n\r\nPMID: 40185629 - Two chinese individuals reported with refractory focal epilepsy (AMBER for epilepsy)\r\n\r\nDe novo missense variants were identified in the two unrelated probands of chinese descent\r\nCase 1 - female patient experiencing epileptic seizures from the age of 4 - Lys812Ile\r\nCase 2 - male patient experienceing epileptic seizures from the age of 7 - Trp1036Cys","entity_name":"ATP11A","entity_type":"gene"},{"created":"2025-04-08T20:14:29.456788+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.124","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: ATP11A was added\ngene: ATP11A was added to Genetic Epilepsy. Sources: Other\nMode of inheritance for gene: ATP11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP11A were set to 40185629\nPhenotypes for gene: ATP11A were set to Focal Epilepsy MONDO:0005384\nReview for gene: ATP11A was set to AMBER\nAdded comment: PMID: 40185629 - Two chinese individuals reported with refractory focal epilepsy\r\n\r\nDe novo missense variants were identified in the two unrelated probands of chinese descent\r\nCase 1 - female patient experiencing epileptic seizures from the age of 4 - Lys812Ile\r\nCase 2 - male patient experienceing epileptic seizures from the age of 7 - Trp1036Cys \nSources: Other","entity_name":"ATP11A","entity_type":"gene"},{"created":"2025-04-08T20:12:30.011945+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2443","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: ATP11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 39432785, 40185629; Phenotypes: leukodystrophy, hypomyelinating, 24, MONDO:0859242, Focal epilepsy MONDO:0005384; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATP11A","entity_type":"gene"},{"created":"2025-04-08T17:54:52.277087+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.318","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: ATP11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 39432785; Phenotypes: leukodystrophy, hypomyelinating, 24, MONDO:0859242; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATP11A","entity_type":"gene"},{"created":"2025-04-08T12:53:08.397577+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.17","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: AP5B1 as ready","entity_name":"AP5B1","entity_type":"gene"},{"created":"2025-04-08T12:53:08.390067+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.17","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ap5b1 has been classified as Amber List (Moderate Evidence).","entity_name":"AP5B1","entity_type":"gene"},{"created":"2025-04-08T12:52:01.534136+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.17","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: AP5B1 as Amber List (moderate evidence)","entity_name":"AP5B1","entity_type":"gene"},{"created":"2025-04-08T12:52:01.527209+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.17","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ap5b1 has been classified as Amber List (Moderate Evidence).","entity_name":"AP5B1","entity_type":"gene"},{"created":"2025-04-08T12:51:37.522422+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.16","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AP5B1 was added\ngene: AP5B1 was added to Lysosomal Storage Disorder. Sources: Literature\nMode of inheritance for gene: AP5B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP5B1 were set to 40081374\nPhenotypes for gene: AP5B1 were set to Hereditary macular dystrophy MONDO:0020242, AP-5 complex-related\nReview for gene: AP5B1 was set to AMBER\nAdded comment: Currently only 2 unrelated cases with macular dystrophy (1 hom & 1 chet). The study also presents sufficient evidence for an association of another AP-5 complex gene (AP5Z1) with macular dystrophy. AP-5 complex proteins (AP5Z1, AP5M1, and AP5B1) display punctate localization in human RPE explants. The AP-5 complex containing AP5Z1, AP5M1, and AP5B1, is integral to lysosome function. AP-5 deficiency results in the accumulation of aberrant endolysosomes, which is a lysosome storage disorder. \nSources: Literature","entity_name":"AP5B1","entity_type":"gene"},{"created":"2025-04-08T12:51:22.407170+10:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.51","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: AP5B1 as ready","entity_name":"AP5B1","entity_type":"gene"},{"created":"2025-04-08T12:51:22.399315+10:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.51","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ap5b1 has been classified as Amber List (Moderate Evidence).","entity_name":"AP5B1","entity_type":"gene"},{"created":"2025-04-08T12:50:50.687180+10:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.51","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: AP5B1 as Amber List (moderate evidence)","entity_name":"AP5B1","entity_type":"gene"},{"created":"2025-04-08T12:50:50.680746+10:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.51","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ap5b1 has been classified as Amber List (Moderate Evidence).","entity_name":"AP5B1","entity_type":"gene"},{"created":"2025-04-08T12:50:38.954949+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2443","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: AP5B1 as ready","entity_name":"AP5B1","entity_type":"gene"},{"created":"2025-04-08T12:50:38.945296+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2443","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ap5b1 has been classified as Amber List (Moderate Evidence).","entity_name":"AP5B1","entity_type":"gene"},{"created":"2025-04-08T12:50:33.283507+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2443","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: AP5B1 as Amber List (moderate evidence)","entity_name":"AP5B1","entity_type":"gene"},{"created":"2025-04-08T12:50:33.274212+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2443","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ap5b1 has been classified as Amber List (Moderate Evidence).","entity_name":"AP5B1","entity_type":"gene"},{"created":"2025-04-08T12:50:20.363693+10:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.50","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AP5B1 was added\ngene: AP5B1 was added to Macular Dystrophy/Stargardt Disease. Sources: Literature\nMode of inheritance for gene: AP5B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP5B1 were set to 40081374\nPhenotypes for gene: AP5B1 were set to Hereditary macular dystrophy MONDO:0020242, AP-5 complex-related\nReview for gene: AP5B1 was set to AMBER\nAdded comment: Currently only 2 unrelated cases with macular dystrophy (1 hom & 1 chet). The study also presents sufficient evidence for an association of another AP-5 complex gene (AP5Z1) with macular dystrophy. AP-5 complex proteins (AP5Z1, AP5M1, and AP5B1) display punctate localization in human RPE explants. \nSources: Literature","entity_name":"AP5B1","entity_type":"gene"},{"created":"2025-04-08T12:50:06.491665+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2442","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AP5B1 was added\ngene: AP5B1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: AP5B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP5B1 were set to 40081374\nPhenotypes for gene: AP5B1 were set to Hereditary macular dystrophy MONDO:0020242, AP-5 complex-related\nReview for gene: AP5B1 was set to AMBER\nAdded comment: Currently only 2 unrelated cases with macular dystrophy (1 hom & 1 chet). The study also presents sufficient evidence for an association of another AP-5 complex gene (AP5Z1) with macular dystrophy. AP-5 complex proteins (AP5Z1, AP5M1, and AP5B1) display punctate localization in human RPE explants. \nSources: Literature","entity_name":"AP5B1","entity_type":"gene"},{"created":"2025-04-08T12:45:01.833500+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2441","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: AP5M1 as ready","entity_name":"AP5M1","entity_type":"gene"},{"created":"2025-04-08T12:45:01.825661+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2441","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ap5m1 has been classified as Green List (High Evidence).","entity_name":"AP5M1","entity_type":"gene"},{"created":"2025-04-08T12:44:24.399739+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.15","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: AP5M1 as Green List (high evidence)","entity_name":"AP5M1","entity_type":"gene"},{"created":"2025-04-08T12:44:24.390043+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.15","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ap5m1 has been classified as Green List (High Evidence).","entity_name":"AP5M1","entity_type":"gene"},{"created":"2025-04-08T12:43:54.011295+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.14","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AP5M1 was added\ngene: AP5M1 was added to Lysosomal Storage Disorder. Sources: Literature\nMode of inheritance for gene: AP5M1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP5M1 were set to 40081374\nPhenotypes for gene: AP5M1 were set to Hereditary macular dystrophy MONDO:0020242, AP-5 complex-related\nReview for gene: AP5M1 was set to GREEN\nAdded comment: 3 unrelated cases with macular dystrophy and homozygous variants (2x nonsense & a missense). The study also presents sufficient evidence for an association of another AP-5 complex gene (AP5Z1) with macular dystrophy. AP-5 complex proteins (AP5Z1, AP5M1, and AP5B1) display punctate localization in human RPE explants. The AP-5 complex containing AP5Z1, AP5M1, and AP5B1, is integral to lysosome function. AP-5 deficiency results in the accumulation of aberrant endolysosomes, which is a lysosome storage disorder. \nSources: Literature","entity_name":"AP5M1","entity_type":"gene"},{"created":"2025-04-08T12:41:06.857082+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.13","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: AP5Z1 as ready","entity_name":"AP5Z1","entity_type":"gene"},{"created":"2025-04-08T12:41:06.850286+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.13","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ap5z1 has been classified as Green List (High Evidence).","entity_name":"AP5Z1","entity_type":"gene"},{"created":"2025-04-08T12:40:49.406740+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.13","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40081374, 29381698, 26085577; Phenotypes: Spastic paraplegia 48, autosomal recessive, MIM# 613647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP5Z1","entity_type":"gene"},{"created":"2025-04-08T12:30:12.572383+10:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.49","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: AP5M1 as ready","entity_name":"AP5M1","entity_type":"gene"},{"created":"2025-04-08T12:30:12.565868+10:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.49","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ap5m1 has been classified as Green List (High Evidence).","entity_name":"AP5M1","entity_type":"gene"},{"created":"2025-04-08T12:30:04.991999+10:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.49","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: AP5M1 as Green List (high evidence)","entity_name":"AP5M1","entity_type":"gene"},{"created":"2025-04-08T12:30:04.984672+10:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.49","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ap5m1 has been classified as Green List (High Evidence).","entity_name":"AP5M1","entity_type":"gene"},{"created":"2025-04-08T12:29:57.716406+10:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.48","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AP5M1 was added\ngene: AP5M1 was added to Macular Dystrophy/Stargardt Disease. Sources: Literature\nMode of inheritance for gene: AP5M1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP5M1 were set to 40081374\nPhenotypes for gene: AP5M1 were set to Hereditary macular dystrophy MONDO:0020242, AP-5 complex-related\nReview for gene: AP5M1 was set to GREEN\nAdded comment: 3 unrelated cases with macular dystrophy and homozygous variants (2x nonsense & a missense). The study also presents sufficient evidence for an association of another AP-5 complex gene (AP5Z1) with macular dystrophy. AP-5 complex proteins (AP5Z1, AP5M1, and AP5B1) display punctate localization in human RPE explants. \nSources: Literature","entity_name":"AP5M1","entity_type":"gene"},{"created":"2025-04-08T12:29:26.705011+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2441","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: AP5M1 as Green List (high evidence)","entity_name":"AP5M1","entity_type":"gene"},{"created":"2025-04-08T12:29:26.694960+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2441","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ap5m1 has been classified as Green List (High Evidence).","entity_name":"AP5M1","entity_type":"gene"},{"created":"2025-04-08T12:29:05.962233+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2440","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AP5M1 was added\ngene: AP5M1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: AP5M1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP5M1 were set to 40081374\nPhenotypes for gene: AP5M1 were set to Hereditary macular dystrophy MONDO:0020242, AP-5 complex-related\nReview for gene: AP5M1 was set to GREEN\nAdded comment: 3 unrelated cases with macular dystrophy and homozygous variants (2x nonsense & a missense). The study also presents sufficient evidence for an association of another AP-5 complex gene (AP5Z1) with macular dystrophy. AP-5 complex proteins (AP5Z1, AP5M1, and AP5B1) display punctate localization in human RPE explants. \nSources: Literature","entity_name":"AP5M1","entity_type":"gene"},{"created":"2025-04-08T12:01:15.283378+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2439","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40081374, 33543803; Phenotypes: Spastic paraplegia 48, autosomal recessive, MIM# 613647, MONDO:0013342, Hereditary macular dystrophy MONDO:0020242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP5Z1","entity_type":"gene"},{"created":"2025-04-08T11:40:23.004695+10:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.47","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: AP5Z1 as ready","entity_name":"AP5Z1","entity_type":"gene"},{"created":"2025-04-08T11:40:22.996916+10:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.47","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ap5z1 has been classified as Green List (High Evidence).","entity_name":"AP5Z1","entity_type":"gene"},{"created":"2025-04-08T11:40:16.102464+10:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.47","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: AP5Z1 as Green List (high evidence)","entity_name":"AP5Z1","entity_type":"gene"},{"created":"2025-04-08T11:40:16.095818+10:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.47","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ap5z1 has been classified as Green List (High Evidence).","entity_name":"AP5Z1","entity_type":"gene"},{"created":"2025-04-08T11:40:01.416075+10:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.46","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AP5Z1 was added\ngene: AP5Z1 was added to Macular Dystrophy/Stargardt Disease. Sources: Literature\nMode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP5Z1 were set to 40081374\nPhenotypes for gene: AP5Z1 were set to Hereditary macular dystrophy MONDO:0020242\nReview for gene: AP5Z1 was set to GREEN\ngene: AP5Z1 was marked as current diagnostic\nAdded comment: 14 families reported with biallelic variants in AP5Z1 with mainly adult-onset macular dystrophy, isolated or with extraocular features (including Parkinsonism, mild ID, HSP, peripheral neuropathy, hearing loss). The authors' suggest that macular dystrophy could be a presenting feature before HSP (or other extraocular features). \nSources: Literature","entity_name":"AP5Z1","entity_type":"gene"},{"created":"2025-04-08T11:15:45.635297+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.90","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: AP5Z1 as Green List (high evidence)","entity_name":"AP5Z1","entity_type":"gene"},{"created":"2025-04-08T11:15:45.628289+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.90","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ap5z1 has been classified as Green List (High Evidence).","entity_name":"AP5Z1","entity_type":"gene"},{"created":"2025-04-08T11:15:32.962455+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.89","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39059408, 26085577, 33543803; Phenotypes: Spastic paraplegia 48, autosomal recessive, MIM# 613647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"AP5Z1","entity_type":"gene"},{"created":"2025-04-08T10:32:15.638440+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.439","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: KCTD10 as Green List (high evidence)","entity_name":"KCTD10","entity_type":"gene"},{"created":"2025-04-08T10:32:15.632975+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.439","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: kctd10 has been classified as Green List (High Evidence).","entity_name":"KCTD10","entity_type":"gene"},{"created":"2025-04-08T10:32:01.541014+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.438","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: KCTD10 as Green List (high evidence)","entity_name":"KCTD10","entity_type":"gene"},{"created":"2025-04-08T10:32:01.532505+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.438","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: kctd10 has been classified as Green List (High Evidence).","entity_name":"KCTD10","entity_type":"gene"},{"created":"2025-04-08T10:31:56.703926+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.437","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: KCTD10 as ready","entity_name":"KCTD10","entity_type":"gene"},{"created":"2025-04-08T10:31:56.693099+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.437","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: kctd10 has been classified as Red List (Low Evidence).","entity_name":"KCTD10","entity_type":"gene"},{"created":"2025-04-08T10:31:41.546479+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2439","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: KCTD10 as ready","entity_name":"KCTD10","entity_type":"gene"},{"created":"2025-04-08T10:31:41.539607+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2439","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: kctd10 has been classified as Green List (High Evidence).","entity_name":"KCTD10","entity_type":"gene"},{"created":"2025-04-08T10:28:30.722836+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.437","user_name":"Bryony Thompson","item_type":"entity","text":"gene: KCTD10 was added\ngene: KCTD10 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: KCTD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCTD10 were set to 24705121; 24430697; 38489388; 40121532\nPhenotypes for gene: KCTD10 were set to multiple congenital anomalies/dysmorphic syndrome MONDO:0019042, KCTD10-related\nReview for gene: KCTD10 was set to GREEN\nAdded comment: Two unrelated probands with multiple congenital anomalies, both with abnormalities of the cardiovascular system and confirmed de novo novel missense variants (p.R248Q and p.N169S). There were also additional individuals (<5) in the GeneDx in-house database who didn’t consent to case-level publication with confirmed de novo missesne variants in KCTD10 and overlapping phenotypes (100% with abnormalities of the cardiovascular system). Other congenital anomalies of different organs systems were present in 33-67% of the individuals. Further elucidation of the phenotypes associated with this gene are required. Additionally, null mouse and zebrafish models suggest Kctd10 is critical for cardiovascular development and is involved in the regulation of brain development. \nSources: Literature","entity_name":"KCTD10","entity_type":"gene"},{"created":"2025-04-08T10:27:42.079696+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2439","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: KCTD10 as Green List (high evidence)","entity_name":"KCTD10","entity_type":"gene"},{"created":"2025-04-08T10:27:42.072224+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2439","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: kctd10 has been classified as Green List (High Evidence).","entity_name":"KCTD10","entity_type":"gene"},{"created":"2025-04-08T10:27:27.181447+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2438","user_name":"Bryony Thompson","item_type":"entity","text":"gene: KCTD10 was added\ngene: KCTD10 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KCTD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCTD10 were set to 24705121; 24430697; 38489388; 40121532\nPhenotypes for gene: KCTD10 were set to multiple congenital anomalies/dysmorphic syndrome MONDO:0019042, KCTD10-related\nReview for gene: KCTD10 was set to GREEN\nAdded comment: Two unrelated probands with multiple congenital anomalies, both with abnormalities of the cardiovascular system and confirmed de novo novel missense variants (p.R248Q and p.N169S). There were also additional individuals (<5) in the GeneDx in-house database who didn’t consent to case-level publication with confirmed de novo missesne variants in KCTD10 and overlapping phenotypes (100% with abnormalities of the cardiovascular system). Other congenital anomalies of different organs systems were present in 33-67% of the individuals. Further elucidation of the phenotypes associated with this gene are required. Additionally, null mouse and zebrafish models suggest Kctd10 is critical for cardiovascular development and is involved in the regulation of brain development. \nSources: Literature","entity_name":"KCTD10","entity_type":"gene"},{"created":"2025-04-08T01:33:43.123058+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2437","user_name":"Sarah Leigh","item_type":"entity","text":"reviewed gene: ATP6V1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39837581, 9916796, 12566520, 18798332; Phenotypes: Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM#267300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ATP6V1B1","entity_type":"gene"},{"created":"2025-04-07T11:56:58.010557+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Melanie Marty","item_type":"entity","text":"edited their review of gene: COL11A2: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COL11A2","entity_type":"gene"},{"created":"2025-04-07T11:28:52.286240+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Melanie Marty","item_type":"entity","text":"changed review comment from: The gene-disease association with otospondylomegaepiphyseal dysplasia is well established (DEFINITIVE) by ClinGen, and deafness is part of the phenotype, both mono-allelic and bi-allelic variants are reported. Otospondylomegaepiphyseal dysplasia AD (OSMED, MIM#184840) is also known as non-ocular Stickler syndrome or Type III Stickler syndrome.\r\n\r\nThere are also a number of reports of mono-allelic and bi-allelic variants associated with isolated deafness (PMIDs: 10581026;25633957;16033917), and rated as MODERATE by ClinGen for AR and DEFINITIVE for AD. Bi-allelic variants are associated with severe pre lingual deafness.\r\n\r\nFibrochondrogenesis 2 a severe skeletal dysplasia is associated with AD and AR.; to: The gene-disease association with otospondylomegaepiphyseal dysplasia is well established (DEFINITIVE) by ClinGen, and deafness is part of the phenotype, both mono-allelic and bi-allelic variants are reported. Otospondylomegaepiphyseal dysplasia AD (OSMED, MIM#184840) is also known as non-ocular Stickler syndrome or Type III Stickler syndrome.\r\n\r\nThere are also a number of reports of mono-allelic and bi-allelic variants associated with isolated deafness (PMIDs: 10581026;25633957;16033917), and rated as MODERATE by ClinGen for AR and DEFINITIVE for AD. Bi-allelic variants are associated with severe pre lingual deafness.\r\n\r\nFibrochondrogenesis 2 a severe skeletal dysplasia is associated with AD and AR.\r\n\r\nOnly including the AR phenotypes for this screening panel.","entity_name":"COL11A2","entity_type":"gene"},{"created":"2025-04-07T11:26:06.727993+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: COL11A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10581026, 25633957, 16033917, 25240749, 22796475, 20112039; Phenotypes: Deafness, autosomal recessive 53 MIM#609706, Fibrochondrogenesis 2 MIM#614524, Otospondylomegaepiphyseal dysplasia, autosomal recessive MIM#215150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"COL11A2","entity_type":"gene"},{"created":"2025-04-04T19:49:29.464331+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2437","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDKL2 as ready","entity_name":"CDKL2","entity_type":"gene"},{"created":"2025-04-04T19:49:29.454593+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2437","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdkl2 has been classified as Amber List (Moderate Evidence).","entity_name":"CDKL2","entity_type":"gene"},{"created":"2025-04-04T19:49:16.889054+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2437","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDKL2 as Amber List (moderate evidence)","entity_name":"CDKL2","entity_type":"gene"},{"created":"2025-04-04T19:49:16.883057+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2437","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdkl2 has been classified as Amber List (Moderate Evidence).","entity_name":"CDKL2","entity_type":"gene"},{"created":"2025-04-04T19:48:55.412142+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2436","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDKL2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, CDKL2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDKL2","entity_type":"gene"},{"created":"2025-04-04T19:48:09.150342+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.98","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDKL2 as ready","entity_name":"CDKL2","entity_type":"gene"},{"created":"2025-04-04T19:48:09.144046+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.98","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdkl2 has been classified as Amber List (Moderate Evidence).","entity_name":"CDKL2","entity_type":"gene"},{"created":"2025-04-04T19:48:01.771870+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.98","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDKL2 as Amber List (moderate evidence)","entity_name":"CDKL2","entity_type":"gene"},{"created":"2025-04-04T19:48:01.762733+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.98","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdkl2 has been classified as Amber List (Moderate Evidence).","entity_name":"CDKL2","entity_type":"gene"},{"created":"2025-04-04T19:47:13.589673+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.97","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDKL2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, CDKL2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDKL2","entity_type":"gene"},{"created":"2025-04-04T19:19:54.042596+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.29","user_name":"Jasmine Chew","item_type":"entity","text":"gene: STAG3 was added\ngene: STAG3 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: STAG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STAG3 were set to 24597867; 26059840; 28393351; 30006057; 32634216; 31125047; 31682730\nPhenotypes for gene: STAG3 were set to Premature ovarian failure 8, MIM# 615723; Spermatogenic failure 61, MIM# 619672\nAdded comment: Literature in OMIM (PMID:24597867; 26059840; 28393351;30006057;32634216; 31125047;  31682730)- biallelic missense and LOF variants reported in conjunction with primary ovarian failure and spermatogenic failure\r\n\r\nNew papers reporting biallelic LOF variants for POI- PMID: 34497033; 35503298\r\n\r\nNew papers reporting biallelic LOF variants for NOA- PMID: 33980954 \r\n\r\nNew papers reporting biallelic LOF variants for both POI and NOA in familial cases- PMID: 39932630; 35176428 \nSources: Literature","entity_name":"STAG3","entity_type":"gene"},{"created":"2025-04-04T19:05:45.955363+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.29","user_name":"Jasmine Chew","item_type":"entity","text":"edited their review of gene: ZP2: Changed rating: GREEN","entity_name":"ZP2","entity_type":"gene"},{"created":"2025-04-04T19:03:33.408729+11:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.29","user_name":"Jasmine Chew","item_type":"entity","text":"gene: MSH4 was added\ngene: MSH4 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: MSH4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MSH4 were set to 28541421; 33448284; 34755185; 33437391; 33448284; 35090489; 34755185; 38175272; 37620942\nPhenotypes for gene: MSH4 were set to Premature ovarian failure 20, MIM# 619938; Spermatogenic failure 2, MIM# 108420\nReview for gene: MSH4 was set to GREEN\nAdded comment: Literature in OMIM (PMID:28541421;33448284; 34755185;33437391;33448284; 35090489; 34755185)- biallelic LOF and missense variants reported in multiple familial cases with premature ovarian failure and spermatogenic failure/azoospermia\r\n\r\nNew papers:\r\ni) PMID: 38175272- novel homozygous nonsense variant ( p.Q40*) in an Iranian family with four affected members consisting of two NOA men with maturation arrest and two women with POI. This variant occurs at the beginning of MSH4 and leads to the formation of a very short chain with 39 residues or complete loss of protein, which it is likely the main reason for the emergence of POI and NOA. Testicular sperm retrieval and ovarian stimulation cycles have not been successful in any of patients.\r\n\r\nii) PMID: 37620942- compound heterozygous variants (p.Thr792Ala and p.Lys741Argfs*2) in a woman with diminished ovarian reserve (DOR), presented with poor oocyte quantity and quality, resulting in unsuccessful in vitro fertilization cycles. Bioinformatics and in vitro functional analysis showed that the p.Thr792Ala variant altered the local conformation of the MutS_V domain without decreasing MSH4 protein expression, while the p.Lys741Argfs*2 variant led to a reduction in MSH4 protein expression without impacting splicing. \nSources: Literature","entity_name":"MSH4","entity_type":"gene"},{"created":"2025-04-04T18:59:24.508119+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.97","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDKL1 as ready","entity_name":"CDKL1","entity_type":"gene"},{"created":"2025-04-04T18:59:24.500209+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.97","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdkl1 has been classified as Red List (Low Evidence).","entity_name":"CDKL1","entity_type":"gene"},{"created":"2025-04-04T18:59:16.842885+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.97","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDKL1 as Red List (low evidence)","entity_name":"CDKL1","entity_type":"gene"},{"created":"2025-04-04T18:59:16.828083+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.97","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdkl1 has been classified as Red List (Low Evidence).","entity_name":"CDKL1","entity_type":"gene"},{"created":"2025-04-04T18:58:55.065523+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.96","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDKL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, CDKL1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDKL1","entity_type":"gene"},{"created":"2025-04-04T18:57:59.206439+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2436","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDKL1 as ready","entity_name":"CDKL1","entity_type":"gene"},{"created":"2025-04-04T18:57:59.197254+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2436","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdkl1 has been classified as Red List (Low Evidence).","entity_name":"CDKL1","entity_type":"gene"},{"created":"2025-04-04T18:57:45.925371+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2436","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDKL1 as Red List (low evidence)","entity_name":"CDKL1","entity_type":"gene"},{"created":"2025-04-04T18:57:45.919416+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2436","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdkl1 has been classified as Red List (Low Evidence).","entity_name":"CDKL1","entity_type":"gene"},{"created":"2025-04-04T18:57:29.947286+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2435","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDKL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, CDKL1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDKL1","entity_type":"gene"},{"created":"2025-04-04T18:54:11.333194+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRIT1 as ready","entity_name":"TRIT1","entity_type":"gene"},{"created":"2025-04-04T18:54:11.326766+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trit1 has been classified as Green List (High Evidence).","entity_name":"TRIT1","entity_type":"gene"},{"created":"2025-04-04T18:54:08.317920+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1868","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRIT1 were changed from Combined oxidative phosphorylation deficiency 35, 617873 (3), Autosomal recessive to Combined oxidative phosphorylation deficiency 35 MIM#617873","entity_name":"TRIT1","entity_type":"gene"},{"created":"2025-04-04T18:53:56.805245+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1867","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRIT1 were set to ","entity_name":"TRIT1","entity_type":"gene"},{"created":"2025-04-04T18:53:31.075169+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1866","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NEB were set to 27228465","entity_name":"NEB","entity_type":"gene"},{"created":"2025-04-04T18:52:58.595048+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OSGEP as ready","entity_name":"OSGEP","entity_type":"gene"}]}