{"count":220650,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=116","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=114","results":[{"created":"2025-11-26T10:03:52.228241+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.484","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: FGD5 was added\ngene: FGD5 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: FGD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FGD5 were set to 32037394; 30232381\nPhenotypes for gene: FGD5 were set to tetralogy of fallot MONDO:0008542","entity_name":"FGD5","entity_type":"gene"},{"created":"2025-11-26T10:02:59.188146+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3659","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: FGD5 was added\ngene: FGD5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FGD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FGD5 were set to 32037394; 30232381\nPhenotypes for gene: FGD5 were set to tetralogy of fallot MONDO:0008542\nReview for gene: FGD5 was set to RED\nAdded comment: Appears to be two separate families reported with different nonsense variants in FGD5 associated with TOF. There is some author and recruitment overlap however there is no compelling evidence to state the two probands are related. \r\n\r\n32037394 - one family reported with a nonsense variant in an individual with pulmonary stenosis and dysplastic valve, ASD - Glu322* (variant is absent in gnomAD v4.1)\r\n30232381 (missed this publication) -  individual reported with TOF, ASD, AF, hypertension, aortic dilation Arg1225* - present in gnomADv4.1 singleton in EAS population.\r\n\r\nThere is no clear evidence that LoF is the mechanism of disease. No pathogenic variants have been reported in ClinVar at this stage thus the gene should remain as Red till further evidence is provided. \nSources: Literature","entity_name":"FGD5","entity_type":"gene"},{"created":"2025-11-26T09:55:46.000954+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.285","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene HECTD4 from panel Intellectual disability syndromic and non-syndromic","entity_name":null,"entity_type":null},{"created":"2025-11-26T09:55:45.635581+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.285","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HECTD4 was added\ngene: HECTD4 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature\nMode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HECTD4 were set to PMID: 36401616\nPhenotypes for gene: HECTD4 were set to Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM# 620250","entity_name":"HECTD4","entity_type":"gene"},{"created":"2025-11-26T07:08:23.548306+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.53","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLF13 as ready","entity_name":"KLF13","entity_type":"gene"},{"created":"2025-11-26T07:08:23.541134+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klf13 has been classified as Amber List (Moderate Evidence).","entity_name":"KLF13","entity_type":"gene"},{"created":"2025-11-26T07:07:21.918121+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.441","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CUL1 as ready","entity_name":"CUL1","entity_type":"gene"},{"created":"2025-11-26T07:07:21.910763+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.441","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cul1 has been classified as Green List (High Evidence).","entity_name":"CUL1","entity_type":"gene"},{"created":"2025-11-26T07:06:57.407528+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.284","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CUL1 as ready","entity_name":"CUL1","entity_type":"gene"},{"created":"2025-11-26T07:06:57.399762+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.284","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cul1 has been classified as Green List (High Evidence).","entity_name":"CUL1","entity_type":"gene"},{"created":"2025-11-25T21:09:36.900419+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.441","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene CUL1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-25T21:09:33.694210+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.441","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CUL1 was added\ngene: CUL1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature\nMode of inheritance for gene: CUL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CUL1 were set to PMID: 41189326\nPhenotypes for gene: CUL1 were set to Neurodevelopmental disorder, MONDO:0700092, CUL1-related","entity_name":"CUL1","entity_type":"gene"},{"created":"2025-11-25T21:09:21.570939+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.284","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CUL1 as Green List (high evidence)","entity_name":"CUL1","entity_type":"gene"},{"created":"2025-11-25T21:09:21.559181+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.284","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cul1 has been classified as Green List (High Evidence).","entity_name":"CUL1","entity_type":"gene"},{"created":"2025-11-25T21:08:31.898465+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3658","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CUL1 as ready","entity_name":"CUL1","entity_type":"gene"},{"created":"2025-11-25T21:08:31.888436+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3658","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cul1 has been classified as Green List (High Evidence).","entity_name":"CUL1","entity_type":"gene"},{"created":"2025-11-25T21:08:18.677199+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3658","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CUL1 as Green List (high evidence)","entity_name":"CUL1","entity_type":"gene"},{"created":"2025-11-25T21:08:18.667233+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3658","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cul1 has been classified as Green List (High Evidence).","entity_name":"CUL1","entity_type":"gene"},{"created":"2025-11-25T21:07:51.077146+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.369","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CUL1 as ready","entity_name":"CUL1","entity_type":"gene"},{"created":"2025-11-25T21:07:51.069017+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.369","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cul1 has been classified as Green List (High Evidence).","entity_name":"CUL1","entity_type":"gene"},{"created":"2025-11-25T21:07:46.932241+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.369","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CUL1 as Green List (high evidence)","entity_name":"CUL1","entity_type":"gene"},{"created":"2025-11-25T21:07:46.921579+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.369","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cul1 has been classified as Green List (High Evidence).","entity_name":"CUL1","entity_type":"gene"},{"created":"2025-11-25T16:20:33.097569+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3657","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed was removed from gene: PDE11A.","entity_name":"PDE11A","entity_type":"gene"},{"created":"2025-11-25T15:23:26.108135+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3657","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: KLF13 as ready","entity_name":"KLF13","entity_type":"gene"},{"created":"2025-11-25T15:23:26.097916+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3657","user_name":"Krithika Murali","item_type":"entity","text":"Gene: klf13 has been classified as Amber List (Moderate Evidence).","entity_name":"KLF13","entity_type":"gene"},{"created":"2025-11-25T15:23:18.237069+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3657","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: KLF13 as Amber List (moderate evidence)","entity_name":"KLF13","entity_type":"gene"},{"created":"2025-11-25T15:23:18.226474+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3657","user_name":"Krithika Murali","item_type":"entity","text":"Gene: klf13 has been classified as Amber List (Moderate Evidence).","entity_name":"KLF13","entity_type":"gene"},{"created":"2025-11-25T15:23:02.191462+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3656","user_name":"Krithika Murali","item_type":"entity","text":"gene: KLF13 was added\ngene: KLF13 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KLF13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KLF13 were set to Congenital heart disease MONDO:0005453 - KLF13-related; Dilated cardiomyopathy - MONDO:0005021, KLF13-related\nReview for gene: KLF13 was set to AMBER\nAdded comment: Curated by ClinGen as Moderate for association with congenital heart disease (12/2/2024)\r\n\r\nPMID: 33215447 Wang et al 2020 - novel heterozygous variation, NM_015995.3: c.370G>T; p.(Glu124*), co-segregating with congenital heart disease in a 3-generation Chinese family. Supportive functional evidence.\r\n\r\nPMID: 35369534 Abhinav et al 2022 - NM_015995.3: c.430G>T; p.(Glu144*) co-segregated with congenital heart disease in a Han Chinese family. Supportive functional evidence.\r\n\r\nPMID: 32293321 Li et al 2020 - Two heterozygous missense variants in two unrelated patients with congenital heart disease. However, they have much higher gnomAD frequencies - c.487C > T (P163S) (11 hets gnomAD v4) and c.467G > A (S156N)(22 hets gnomAD v4). No segregation information and the functional evidence was not convincing. This paper was included as genetic evidence in the ClinGen curation.\r\n\r\nMonoallelic variants have also been reported in association with adult-onset DCM.\r\n\r\nPMID 36346048 Guo et al 2022 – Identified heterozygous KLF13 gene variants co-segregating with adult-onset DCM in 3 unrelated families - c.430G>T (p.E144X); c.580G>T (p.E194X) and c.595T>C (p.C199R). Functional studies support disrupted synergistic transactivation between mutant KLF13 and target genes ACTC1, MYH7 and GATA4. Monoallelic variants in KLF13 have also been associated with congenital heart disease. Of note, 2 individuals from Family 1 and 1 individual from Family 2 also had an atrial septal defect.\r\n\r\nPMID 41201692 Tang et al 2025 – report a novel heterozygous truncating KLF13 mutation, i.e., NM_015995.3:c.534 C>G;p.(Tyr178) in two unrelated patients with adult onset DCM (42-year-old male patient and a 51-year old female case 51 years old). Variant was absent in healthy controls. No segregation evidence. Supportive functional evidence.\r\n\r\nMore evidence including segregation information, genotype-phenotype correlation between DCM and/or congenital heart disease and ascertainment from diverse ancestries required. \nSources: Literature","entity_name":"KLF13","entity_type":"gene"},{"created":"2025-11-25T15:15:45.670559+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.53","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: KLF13 as Amber List (moderate evidence)","entity_name":"KLF13","entity_type":"gene"},{"created":"2025-11-25T15:15:45.663479+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.53","user_name":"Krithika Murali","item_type":"entity","text":"Gene: klf13 has been classified as Amber List (Moderate Evidence).","entity_name":"KLF13","entity_type":"gene"},{"created":"2025-11-25T15:15:11.623457+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.52","user_name":"Krithika Murali","item_type":"entity","text":"changed review comment from: PMID 36346048  Guo et al 2022 – Identified heterozygous KLF13 gene variants co-segregating with adult-onset DCM in 3 unrelated families - c.430G>T (p.E144X); c.580G>T (p.E194X) and c.595T>C (p.C199R). Functional studies support disrupted synergistic transactivation between mutant KLF13 and target genes ACTC1, MYH7 and GATA4. Monoallelic variants in KLF13 have also been associated with congenital heart disease. Of note, 2 individuals from Family 1 and 1 individual from Family 2 also had an atrial septal defect. \r\n\r\nPMID 41201692 Tang et al 2025 – report a novel heterozygous truncating KLF13 mutation, i.e., NM_015995.3:c.534 C>G;p.(Tyr178) in two unrelated patients with adult onset DCM (42-year-old male patient and a 51-year old female case 51 years old). Variant was absent in healthy controls. No segregation evidence. Supportive functional evidence.\r\n\r\nMore genetic evidence including segregation information and ascertainment from diverse ancestries required. \nSources: Literature; to: PMID 36346048  Guo et al 2022 – Identified heterozygous KLF13 gene variants co-segregating with adult-onset DCM in 3 unrelated families - c.430G>T (p.E144X); c.580G>T (p.E194X) and c.595T>C (p.C199R). Functional studies support disrupted synergistic transactivation between mutant KLF13 and target genes ACTC1, MYH7 and GATA4. Monoallelic variants in KLF13 have also been associated with congenital heart disease. Of note, 2 individuals from Family 1 and 1 individual from Family 2 also had an atrial septal defect. \r\n\r\nPMID 41201692 Tang et al 2025 – report a novel heterozygous truncating KLF13 mutation, i.e., NM_015995.3:c.534 C>G;p.(Tyr178) in two unrelated patients with adult onset DCM (42-year-old male patient and a 51-year old female case 51 years old). Variant was absent in healthy controls. No segregation evidence. Supportive functional evidence.\r\n\r\nMore evidence including segregation information, genotype-phenotype correlation DCM and/or congenital heart disease and ascertainment from diverse ancestries required. \r\n\r\nSources: Literature","entity_name":"KLF13","entity_type":"gene"},{"created":"2025-11-25T15:14:01.727249+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.52","user_name":"Krithika Murali","item_type":"entity","text":"gene: KLF13 was added\ngene: KLF13 was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: KLF13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KLF13 were set to PMID: 36346048; 41201692\nPhenotypes for gene: KLF13 were set to Dilated cardiomyopathy - MONDO:0005021, KLF13-related\nReview for gene: KLF13 was set to AMBER\nAdded comment: PMID 36346048  Guo et al 2022 – Identified heterozygous KLF13 gene variants co-segregating with adult-onset DCM in 3 unrelated families - c.430G>T (p.E144X); c.580G>T (p.E194X) and c.595T>C (p.C199R). Functional studies support disrupted synergistic transactivation between mutant KLF13 and target genes ACTC1, MYH7 and GATA4. Monoallelic variants in KLF13 have also been associated with congenital heart disease. Of note, 2 individuals from Family 1 and 1 individual from Family 2 also had an atrial septal defect. \r\n\r\nPMID 41201692 Tang et al 2025 – report a novel heterozygous truncating KLF13 mutation, i.e., NM_015995.3:c.534 C>G;p.(Tyr178) in two unrelated patients with adult onset DCM (42-year-old male patient and a 51-year old female case 51 years old). Variant was absent in healthy controls. No segregation evidence. Supportive functional evidence.\r\n\r\nMore genetic evidence including segregation information and ascertainment from diverse ancestries required. \nSources: Literature","entity_name":"KLF13","entity_type":"gene"},{"created":"2025-11-25T14:55:22.559267+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.368","user_name":"Sarah Milton","item_type":"panel","text":"Copied gene CUL1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-25T14:55:22.336191+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.368","user_name":"Sarah Milton","item_type":"entity","text":"gene: CUL1 was added\ngene: CUL1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: CUL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CUL1 were set to PMID: 41189326\nPhenotypes for gene: CUL1 were set to Neurodevelopmental disorder, MONDO:0700092, CUL1-related","entity_name":"CUL1","entity_type":"gene"},{"created":"2025-11-25T14:54:44.152911+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.283","user_name":"Sarah Milton","item_type":"panel","text":"Copied gene CUL1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-25T14:54:42.992555+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.283","user_name":"Sarah Milton","item_type":"entity","text":"gene: CUL1 was added\ngene: CUL1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CUL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CUL1 were set to PMID: 41189326\nPhenotypes for gene: CUL1 were set to Neurodevelopmental disorder, MONDO:0700092, CUL1-related","entity_name":"CUL1","entity_type":"gene"},{"created":"2025-11-25T14:53:10.807295+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3655","user_name":"Sarah Milton","item_type":"entity","text":"gene: CUL1 was added\ngene: CUL1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CUL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CUL1 were set to PMID: 41189326\nPhenotypes for gene: CUL1 were set to Neurodevelopmental disorder, MONDO:0700092, CUL1-related\nReview for gene: CUL1 was set to GREEN\nAdded comment: CUL1 encodes Cullin 1 and is part of the SCF ubiquitin ligase complex which is involved in protein degradation and cell cycle progression.\r\n\r\nOther Cullin proteins have previously been implicated in neurodevelopmental disorders e.g. CUL3\r\n\r\nPMID: 41189326 describes 4 probands with microcephaly (postnatal in 3 out of 4), severe ID, seizures (2/4) and variable dysmorphic features. Variant types include nonsense, missense and splice with proposed LOF mechanism. \r\nOne individual inherited the variant from an affected mother with a slightly milder phenotype.\r\nAll variants were very rare (1 het) or absent from gnomAD v4.\r\n\r\nCUL1 is under LOF constraint with very few NMD predicted variants in the population.\r\n\r\nThe paper described supportive zebrafish studies showing knockout models had reduced forebrain proportion and abnormal growth. \nSources: Literature","entity_name":"CUL1","entity_type":"gene"},{"created":"2025-11-25T14:38:55.450741+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.396","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: B3GLCT as ready","entity_name":"B3GLCT","entity_type":"gene"},{"created":"2025-11-25T14:38:55.443902+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.396","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: b3glct has been classified as Green List (High Evidence).","entity_name":"B3GLCT","entity_type":"gene"},{"created":"2025-11-25T14:38:52.318868+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.396","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: B3GLCT were changed from  to Peters-plus syndrome, MIM# 261540","entity_name":"B3GLCT","entity_type":"gene"},{"created":"2025-11-25T14:38:30.772864+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: B3GLCT were set to ","entity_name":"B3GLCT","entity_type":"gene"},{"created":"2025-11-25T14:38:03.857342+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.394","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: B3GLCT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"B3GLCT","entity_type":"gene"},{"created":"2025-11-25T14:37:16.521137+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.393","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DHCR7 as ready","entity_name":"DHCR7","entity_type":"gene"},{"created":"2025-11-25T14:37:16.513537+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.393","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhcr7 has been classified as Amber List (Moderate Evidence).","entity_name":"DHCR7","entity_type":"gene"},{"created":"2025-11-25T14:37:14.373582+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.393","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DHCR7 were changed from  to Smith-Lemli-Opitz syndrome, MIM#270400","entity_name":"DHCR7","entity_type":"gene"},{"created":"2025-11-25T14:36:49.305702+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.392","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DHCR7 were set to ","entity_name":"DHCR7","entity_type":"gene"},{"created":"2025-11-25T14:36:22.534119+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DHCR7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DHCR7","entity_type":"gene"},{"created":"2025-11-25T14:35:55.894531+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.390","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DHCR7 as Amber List (moderate evidence)","entity_name":"DHCR7","entity_type":"gene"},{"created":"2025-11-25T14:35:55.884542+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.390","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhcr7 has been classified as Amber List (Moderate Evidence).","entity_name":"DHCR7","entity_type":"gene"},{"created":"2025-11-25T14:35:34.126664+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.389","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DHCR7: Rating: AMBER; Mode of pathogenicity: None; Publications: 18076100, 9880216; Phenotypes: Smith-Lemli-Opitz syndrome, MIM#270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DHCR7","entity_type":"gene"},{"created":"2025-11-25T14:33:46.552593+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.389","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene CYP27A1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-25T14:32:12.896824+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.388","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene B3GLCT from panel Eye Anterior Segment Abnormalities","entity_name":null,"entity_type":null},{"created":"2025-11-25T14:30:41.663514+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.387","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AGPS as ready","entity_name":"AGPS","entity_type":"gene"},{"created":"2025-11-25T14:30:41.656033+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.387","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: agps has been classified as Green List (High Evidence).","entity_name":"AGPS","entity_type":"gene"},{"created":"2025-11-25T14:30:38.777687+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.387","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AGPS were changed from  to Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121","entity_name":"AGPS","entity_type":"gene"},{"created":"2025-11-25T14:30:12.831085+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.386","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AGPS were set to ","entity_name":"AGPS","entity_type":"gene"},{"created":"2025-11-25T14:29:49.677347+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.385","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AGPS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AGPS","entity_type":"gene"},{"created":"2025-11-25T14:29:49.344169+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.483","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: KLF13 as ready","entity_name":"KLF13","entity_type":"gene"},{"created":"2025-11-25T14:29:49.330908+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.483","user_name":"Krithika Murali","item_type":"entity","text":"Gene: klf13 has been classified as Amber List (Moderate Evidence).","entity_name":"KLF13","entity_type":"gene"},{"created":"2025-11-25T14:29:45.327664+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.483","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: KLF13 as Amber List (moderate evidence)","entity_name":"KLF13","entity_type":"gene"},{"created":"2025-11-25T14:29:45.319169+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.483","user_name":"Krithika Murali","item_type":"entity","text":"Gene: klf13 has been classified as Amber List (Moderate Evidence).","entity_name":"KLF13","entity_type":"gene"},{"created":"2025-11-25T14:29:26.258451+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.384","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: well established gene-disease association.; to: Well established gene-disease association. Cataracts reported.","entity_name":"AGPS","entity_type":"gene"},{"created":"2025-11-25T14:29:11.998790+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.384","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: AGPS: Changed publications: 9553082, 8611652, 21990100, 35986576","entity_name":"AGPS","entity_type":"gene"},{"created":"2025-11-25T14:29:05.547884+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.482","user_name":"Krithika Murali","item_type":"entity","text":"changed review comment from: Curated by ClinGen as Moderate for association with congenital heart disease (12/2/2024)\r\n\r\nPMID: 33215447 Wang et al 2020 - novel heterozygous variation, NM_015995.3: c.370G>T; p.(Glu124*), co-segregating with congenital heart disease in a 3-generation Chinese family.  Supportive functional evidence.\r\n\r\nPMID: 35369534 Abhinav et al 2022 - NM_015995.3: c.430G>T; p.(Glu144*) co-segregated with congenital heart disease in a Han Chinese family. Supportive functional evidence.\r\n\r\nPMID: 32293321 Li et al 2020 - Two heterozygous missense variants in two unrelated patients with congenital heart disease.  However, they have much higher gnomAD frequencies -  c.487C > T (P163S) (11 hets gnomAD v4) and c.467G > A (S156N)(22 hets gnomAD v4). No segregation information and the functional evidence was not convincing.  This paper was included as genetic evidence in the ClinGen curation. \nSources: Literature; to: Curated by ClinGen as Moderate for association with congenital heart disease (12/2/2024)\r\n\r\nPMID: 33215447 Wang et al 2020 - novel heterozygous variation, NM_015995.3: c.370G>T; p.(Glu124*), co-segregating with congenital heart disease in a 3-generation Chinese family.  Supportive functional evidence.\r\n\r\nPMID: 35369534 Abhinav et al 2022 - NM_015995.3: c.430G>T; p.(Glu144*) co-segregated with congenital heart disease in a Han Chinese family. Supportive functional evidence.\r\n\r\nPMID: 32293321 Li et al 2020 - Two heterozygous missense variants in two unrelated patients with congenital heart disease.  However, they have much higher gnomAD frequencies -  c.487C > T (P163S) (11 hets gnomAD v4) and c.467G > A (S156N)(22 hets gnomAD v4). No segregation information and the functional evidence was not convincing.  This paper was included as genetic evidence in the ClinGen curation. \r\n\r\nNote monoallelic variants, particularly PTC, have also been reported in association with adult-onset DCM.\r\nSources: Literature","entity_name":"KLF13","entity_type":"gene"},{"created":"2025-11-25T14:26:39.385264+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.384","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAMTS10 as ready","entity_name":"ADAMTS10","entity_type":"gene"},{"created":"2025-11-25T14:26:39.374605+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.384","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adamts10 has been classified as Green List (High Evidence).","entity_name":"ADAMTS10","entity_type":"gene"},{"created":"2025-11-25T14:26:35.267353+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.384","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADAMTS10 were changed from  to Weill-Marchesani syndrome 1, recessive, MIM#277600","entity_name":"ADAMTS10","entity_type":"gene"},{"created":"2025-11-25T14:26:13.482477+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.383","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADAMTS10 were set to ","entity_name":"ADAMTS10","entity_type":"gene"},{"created":"2025-11-25T14:25:48.328718+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.382","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ADAMTS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADAMTS10","entity_type":"gene"},{"created":"2025-11-25T14:25:22.017108+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.381","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects.\r\n\r\nMultiple families reported.\r\n\r\nSources: Expert list; to: Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects.\r\n\r\nCataracts are a feature.\r\n\r\nMultiple families reported.\r\n\r\nSources: Expert list","entity_name":"ADAMTS10","entity_type":"gene"},{"created":"2025-11-25T14:25:01.278281+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.381","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALDH18A1 as ready","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2025-11-25T14:25:01.266931+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.381","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh18a1 has been classified as Green List (High Evidence).","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2025-11-25T14:24:33.005813+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.381","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALDH18A1 were changed from  to Cutis laxa, autosomal recessive, type IIIA MIM#219150; Spastic paraplegia 9A, autosomal dominant MIM#601162; Spastic paraplegia 9B, autosomal recessive MIM#616586; Cutis laxa, autosomal dominant 3 MIM#616603","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2025-11-25T14:24:10.131596+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.380","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALDH18A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2025-11-25T14:23:43.244887+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.379","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIIA MIM#219150, Spastic paraplegia 9A, autosomal dominant MIM#601162, Spastic paraplegia 9B, autosomal recessive MIM#616586, Cutis laxa, autosomal dominant 3 MIM#616603; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2025-11-25T14:22:47.094385+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.482","user_name":"Krithika Murali","item_type":"entity","text":"gene: KLF13 was added\ngene: KLF13 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: KLF13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KLF13 were set to PMID: 32293321; 35369534; 33215447\nPhenotypes for gene: KLF13 were set to Congenital heart disease MONDO:0005453 - KLF13-related\nReview for gene: KLF13 was set to AMBER\nAdded comment: Curated by ClinGen as Moderate for association with congenital heart disease (12/2/2024)\r\n\r\nPMID: 33215447 Wang et al 2020 - novel heterozygous variation, NM_015995.3: c.370G>T; p.(Glu124*), co-segregating with congenital heart disease in a 3-generation Chinese family.  Supportive functional evidence.\r\n\r\nPMID: 35369534 Abhinav et al 2022 - NM_015995.3: c.430G>T; p.(Glu144*) co-segregated with congenital heart disease in a Han Chinese family. Supportive functional evidence.\r\n\r\nPMID: 32293321 Li et al 2020 - Two heterozygous missense variants in two unrelated patients with congenital heart disease.  However, they have much higher gnomAD frequencies -  c.487C > T (P163S) (11 hets gnomAD v4) and c.467G > A (S156N)(22 hets gnomAD v4). No segregation information and the functional evidence was not convincing.  This paper was included as genetic evidence in the ClinGen curation. \nSources: Literature","entity_name":"KLF13","entity_type":"gene"},{"created":"2025-11-25T14:21:51.652276+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.379","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene AGPS from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-25T14:21:10.203169+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.379","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene ADAMTS10 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-25T14:18:30.688242+11:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.31","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LYN as ready","entity_name":"LYN","entity_type":"gene"},{"created":"2025-11-25T14:18:30.681336+11:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lyn has been classified as Green List (High Evidence).","entity_name":"LYN","entity_type":"gene"},{"created":"2025-11-25T13:33:04.152760+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2025-11-25T13:28:37.672092+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.674","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUBB3 as ready","entity_name":"TUBB3","entity_type":"gene"},{"created":"2025-11-25T13:28:37.661998+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.674","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubb3 has been classified as Green List (High Evidence).","entity_name":"TUBB3","entity_type":"gene"},{"created":"2025-11-25T13:28:23.487106+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.674","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene TUBB3 from panel Hereditary Neuropathy - complex","entity_name":null,"entity_type":null},{"created":"2025-11-25T13:28:23.243989+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.674","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TUBB3 was added\ngene: TUBB3 was added to Arthrogryposis. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBB3 were set to 20074521; 34652576\nPhenotypes for gene: TUBB3 were set to Fibrosis of extraocular muscles, congenital, 3A (MIM#600638); Neuropathy","entity_name":"TUBB3","entity_type":"gene"},{"created":"2025-11-25T13:26:16.794781+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.673","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SVIL as ready","entity_name":"SVIL","entity_type":"gene"},{"created":"2025-11-25T13:26:16.786866+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.673","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: svil has been classified as Amber List (Moderate Evidence).","entity_name":"SVIL","entity_type":"gene"},{"created":"2025-11-25T13:22:25.871013+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.673","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene SVIL from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-25T13:22:25.652457+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.673","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SVIL was added\ngene: SVIL was added to Arthrogryposis. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: SVIL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SVIL were set to 32779703\nPhenotypes for gene: SVIL were set to Myofibrillar myopathy, MIM#619040\nPenetrance for gene: SVIL were set to unknown","entity_name":"SVIL","entity_type":"gene"},{"created":"2025-11-25T13:18:47.675473+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.282","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SEC31A as ready","entity_name":"SEC31A","entity_type":"gene"},{"created":"2025-11-25T13:18:47.664128+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.282","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sec31a has been classified as Amber List (Moderate Evidence).","entity_name":"SEC31A","entity_type":"gene"},{"created":"2025-11-25T13:18:26.060506+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.440","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SEC31A were changed from ?Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies,\tOMIM #618651 to Halperin-Birk syndrome, MIM# 618651","entity_name":"SEC31A","entity_type":"gene"},{"created":"2025-11-25T13:17:58.614029+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.439","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SEC31A were set to 30464055","entity_name":"SEC31A","entity_type":"gene"},{"created":"2025-11-25T13:17:19.154473+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.367","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SEC31A were set to 30464055","entity_name":"SEC31A","entity_type":"gene"},{"created":"2025-11-25T13:16:58.401410+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.366","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SEC31A were changed from ?Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies,\tOMIM #618651 to Halperin-Birk syndrome, MIM# 618651","entity_name":"SEC31A","entity_type":"gene"},{"created":"2025-11-25T13:16:23.164644+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3654","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SEC31A were changed from Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MIM#\t618651; congenital neurodevelopmental syndrome; spastic paraplegia; multiple contractures; profound developmental delay; epilepsy; failure to thrive to Halperin-Birk syndrome, MIM# 618651","entity_name":"SEC31A","entity_type":"gene"},{"created":"2025-11-25T13:16:03.945987+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3653","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SEC31A were set to PMID: 30464055","entity_name":"SEC31A","entity_type":"gene"},{"created":"2025-11-25T13:15:14.236647+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.365","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene SEC31A from panel Arthrogryposis","entity_name":null,"entity_type":null},{"created":"2025-11-25T13:14:33.705328+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3652","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene SEC31A from panel Arthrogryposis","entity_name":null,"entity_type":null},{"created":"2025-11-25T13:14:20.157446+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.438","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene SEC31A from panel Arthrogryposis","entity_name":null,"entity_type":null}]}