{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=583","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=581","results":[{"created":"2023-07-10T18:53:17.661375+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.89","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hprt1 has been classified as Green List (High Evidence).","entity_name":"HPRT1","entity_type":"gene"},{"created":"2023-07-08T01:59:25.155176+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DOCK11 were changed from autoimmune disease MONDO:0007179, DOCK11-related to Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109","entity_name":"DOCK11","entity_type":"gene"},{"created":"2023-07-08T01:58:23.594395+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.968","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DOCK11 were changed from autoimmune disease MONDO:0007179, DOCK11-related to Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109","entity_name":"DOCK11","entity_type":"gene"},{"created":"2023-07-07T14:33:55.027764+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.40","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: ZNF808 as ready","entity_name":"ZNF808","entity_type":"gene"},{"created":"2023-07-07T14:33:55.014006+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.40","user_name":"Krithika Murali","item_type":"entity","text":"Gene: znf808 has been classified as Green List (High Evidence).","entity_name":"ZNF808","entity_type":"gene"},{"created":"2023-07-07T14:33:50.793728+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.40","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: ZNF808 as Green List (high evidence)","entity_name":"ZNF808","entity_type":"gene"},{"created":"2023-07-07T14:33:50.782945+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.40","user_name":"Krithika Murali","item_type":"entity","text":"Gene: znf808 has been classified as Green List (High Evidence).","entity_name":"ZNF808","entity_type":"gene"},{"created":"2023-07-07T14:33:33.957225+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.39","user_name":"Krithika Murali","item_type":"entity","text":"gene: ZNF808 was added\ngene: ZNF808 was added to Monogenic Diabetes. Sources: Literature\nMode of inheritance for gene: ZNF808 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF808 were set to PMID: 37308312\nPhenotypes for gene: ZNF808 were set to non-syndromic neonatal diabetes; MONDO:0016391\nReview for gene: ZNF808 was set to GREEN\nAdded comment: PMID: 37308312; Alqahtani, MA. et al. (2023) Clin Genet. doi: 10.1111/cge.14389. Three siblings in one consanguineous Saudi Arabian family with non-syndromic neonatal diabetes, all with a homozygous frameshift variant, NM_001321425.2:c.1448dupA, p.(Tyr483*), in ZNF808. (Same nucleotide and amino acid numbering as for the MANE SELECT transcript, NM_001039886.4). This variant has been entered as likely pathogenic in ClinVar by this group. This variant occurs in the last exon of the gene and is therefore not NMD-predicted. Instead it is predicted to cause a truncated protein. This paper shows a diagram with several other truncating variants in this exon, which were reported in the paper by De Franco, E. et al. (2021). (These patients also had low vitamin D levels, suggesting an association, and is consistent with other studies looking into loci that are associated with vitamin D). De Franco, E. et al. (2021) medRxiv 08.23.21262262. (Exeter, UK): Firstly, this group found a homozygous variant NM_001039886.3:c.637del, p.(Leu213*) that is predicted to cause a truncated protein, and also a homozygous CNV Chr19(GRCh37):g.53057128_53100968del (predicted to cause a deletion of exons 4 and 5) in two unrelated affected individuals. These patients had pancreatic agenesis, defined as insulin-dependent diabetes in the first 6 months of life (neonatal diabetes) and exocrine pancreatic insufficiency. Both were from consanguineous families. Parents were subsequently tested and shown to be heterozygous carriers. They then investigated 232 additional patients who had been diagnosed with neonatal diabetes before the age of 6 months and found ten more homozygous ZNF808 variants. Six were nonsense: p.(Gln194*), p.(Cys233*), p.(Tyr427*), p.(Lys458*), p.(Tyr528*) and p.(Arg727*), and three were frameshift variants: p.(Ala379Valfs*157), p.(Leu588Profs*118), p.(Asn770Ilefs*98) and one was a whole-gene deletion. All the frameshift and nonsense variants occurred in the last exon of the gene, which contains all 23 zinc finger domains; and therefore all of these variants are predicted to result in truncated proteins, and removal of some, if not all, those domains. This group also carried out functional studies using an in vitro model of pancreas development and showed an aberrant activation of many transposable elements (mostly MER11 elements) that would be normally be repressed during early pancreas development. \nSources: Literature","entity_name":"ZNF808","entity_type":"gene"},{"created":"2023-07-07T14:32:03.381769+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.967","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: ZNF808 as ready","entity_name":"ZNF808","entity_type":"gene"},{"created":"2023-07-07T14:32:03.371236+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.967","user_name":"Krithika Murali","item_type":"entity","text":"Gene: znf808 has been classified as Green List (High Evidence).","entity_name":"ZNF808","entity_type":"gene"},{"created":"2023-07-07T14:32:00.257875+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.967","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: ZNF808 as Green List (high evidence)","entity_name":"ZNF808","entity_type":"gene"},{"created":"2023-07-07T14:32:00.254820+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.967","user_name":"Krithika Murali","item_type":"entity","text":"Added comment: Comment on list classification: Green in Genomics England PanelApp neonatal diabetes panel with both of these papers cited in their review. Note that De Franco et al has not been peer-reviewed, however, the evidence provided is strong and from a reputable source.","entity_name":"ZNF808","entity_type":"gene"},{"created":"2023-07-07T14:32:00.231980+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.967","user_name":"Krithika Murali","item_type":"entity","text":"Gene: znf808 has been classified as Green List (High Evidence).","entity_name":"ZNF808","entity_type":"gene"},{"created":"2023-07-07T11:48:39.859290+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.166","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301682, 23332917, 29524657; Phenotypes: Spastic paraplegia 46 MIM#614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GBA2","entity_type":"gene"},{"created":"2023-07-07T09:04:08.681533+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.166","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: EXOSC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25144110, 22544365; Phenotypes: Pontocerebellar hypoplasia, type 1B, MIM#614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2023-07-06T15:18:46.215840+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.166","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"edited their review of gene: ERCC6: Changed rating: RED","entity_name":"ERCC6","entity_type":"gene"},{"created":"2023-07-06T15:18:41.780152+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.166","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"changed review comment from: Peripheral neuropathy with nerve conduction study confirmation is a minor criteria for suspected individuals with Cockayne Syndrome. \r\n\r\nNo reports of neuropathy as a phenotype in a confirmed diagnosis of Cockayne Syndrome.; to: No established gene-disease association \r\n\r\nPeripheral neuropathy with nerve conduction study confirmation is a minor criteria for suspected individuals with Cockayne Syndrome. \r\n\r\nNo reports of neuropathy as a phenotype in a confirmed diagnosis of Cockayne Syndrome.","entity_name":"ERCC6","entity_type":"gene"},{"created":"2023-07-06T15:18:23.478460+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.166","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: ERCC8: Rating: RED; Mode of pathogenicity: None; Publications: 4320535; Phenotypes: Cockayne syndrome, type A MIM#216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC8","entity_type":"gene"},{"created":"2023-07-06T15:11:13.406891+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.166","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"edited their review of gene: ERCC6: Changed rating: AMBER","entity_name":"ERCC6","entity_type":"gene"},{"created":"2023-07-06T14:23:41.584764+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.966","user_name":"Hazel Phillimore","item_type":"entity","text":"gene: ZNF808 was added\ngene: ZNF808 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZNF808 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF808 were set to PMID: 37308312\nPhenotypes for gene: ZNF808 were set to non-syndromic neonatal diabetes; MONDO:0016391\nReview for gene: ZNF808 was set to GREEN\nAdded comment: PMID: 37308312; Alqahtani, MA. et al. (2023) Clin Genet. doi: 10.1111/cge.14389.\r\nThree siblings in one consanguineous Saudi Arabian family with non-syndromic neonatal diabetes, all with a homozygous frameshift variant, NM_001321425.2:c.1448dupA, p.(Tyr483*), in ZNF808. (Same nucleotide and amino acid numbering as for the MANE SELECT transcript, NM_001039886.4).\r\nThis variant has been entered as likely pathogenic in ClinVar by this group. \r\nThis variant occurs in the last exon of the gene and is therefore not NMD-predicted. Instead it is predicted to cause a truncated protein. \r\nThis paper shows a diagram with several other truncating variants in this exon, which were reported in the paper by De Franco, E. et al. (2021).  \r\n(These patients also had low vitamin D levels, suggesting an association, and is consistent with other studies looking into loci that are associated with vitamin D). \r\n\r\nDe Franco, E. et al. (2021) medRxiv 08.23.21262262. (Exeter, UK): \r\nFirstly, this group found a homozygous variant NM_001039886.3:c.637del, p.(Leu213*) that is predicted to cause a truncated protein, and also a homozygous CNV Chr19(GRCh37):g.53057128_53100968del (predicted to cause a deletion of exons 4 and 5) in two unrelated affected individuals. These patients had pancreatic agenesis, defined as insulin-dependent diabetes in the first 6 months of life (neonatal diabetes) and exocrine pancreatic insufficiency. Both were from consanguineous families. Parents were subsequently tested and shown to be heterozygous carriers.\r\nThey then investigated 232 additional patients who had been diagnosed with neonatal diabetes before the age of 6 months and found ten more homozygous ZNF808 variants. Six were nonsense: p.(Gln194*), p.(Cys233*), p.(Tyr427*), p.(Lys458*), p.(Tyr528*) and p.(Arg727*), and three were frameshift variants: p.(Ala379Valfs*157), p.(Leu588Profs*118), p.(Asn770Ilefs*98) and one was a whole-gene deletion. \r\nAll the frameshift and nonsense variants occurred in the last exon of the gene, which contains all 23 zinc finger domains; and therefore all of these variants are predicted to result in truncated proteins, and removal of some, if not all, those domains.   \r\nThis group also carried out functional studies using an in vitro model of pancreas development and showed an aberrant activation of many transposable elements (mostly MER11 elements) that would be normally be repressed during early pancreas development. \nSources: Literature","entity_name":"ZNF808","entity_type":"gene"},{"created":"2023-07-06T14:18:23.613764+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"1.9","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: IFT74 as Green List (high evidence)","entity_name":"IFT74","entity_type":"gene"},{"created":"2023-07-06T14:18:23.603545+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"1.9","user_name":"Krithika Murali","item_type":"entity","text":"Gene: ift74 has been classified as Green List (High Evidence).","entity_name":"IFT74","entity_type":"gene"},{"created":"2023-07-06T14:18:17.927749+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"1.8","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: IFT74 as ready","entity_name":"IFT74","entity_type":"gene"},{"created":"2023-07-06T14:18:17.885763+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"1.8","user_name":"Krithika Murali","item_type":"entity","text":"Gene: ift74 has been removed from the panel.","entity_name":"IFT74","entity_type":"gene"},{"created":"2023-07-06T14:16:29.511311+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.289","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: IFT74 as ready","entity_name":"IFT74","entity_type":"gene"},{"created":"2023-07-06T14:16:29.502125+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.289","user_name":"Krithika Murali","item_type":"entity","text":"Gene: ift74 has been classified as Green List (High Evidence).","entity_name":"IFT74","entity_type":"gene"},{"created":"2023-07-06T14:16:24.871293+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.289","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: IFT74 as Green List (high evidence)","entity_name":"IFT74","entity_type":"gene"},{"created":"2023-07-06T14:16:24.861449+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.289","user_name":"Krithika Murali","item_type":"entity","text":"Gene: ift74 has been classified as Green List (High Evidence).","entity_name":"IFT74","entity_type":"gene"},{"created":"2023-07-06T14:11:23.951287+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.288","user_name":"Naomi Baker","item_type":"entity","text":"gene: IFT74 was added\ngene: IFT74 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT74 were set to PMID: 37315079\nPhenotypes for gene: IFT74 were set to Jeune syndrome (MONDO:0018770), IFT74-related\nAdded comment: Five individuals from four families reported. A homozygous exon 2 deletion was identified in two families, and splice variants were identified in the other two families (with minigene experiments demonstrating an effect on splicing of the non-canonical/deep intronic splice variants).\r\n\r\nFour of the five individuals had heart defects, including ASD, AVSD, patent ductus arteriosus, double outlet right ventricle, hypoplastic left heart, aortic atresia, and hypoplastic left\r\nventricle.\r\n\r\nAuthors also characterised three mouse Ift74 alleles, with phenotypes ranging from a severe mid gestational lethal phenotype in the Ift74Tm1d out of frame exon 3 deletion allele, a post-natal lethal phenotype in the Ift74Tm1a exon 2 skip allele, to no detectable phenotype in Ift74Tm1b in frame exon 3 deletion allele. \nSources: Literature","entity_name":"IFT74","entity_type":"gene"},{"created":"2023-07-06T14:07:56.326594+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.240","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: IFT74 as Green List (high evidence)","entity_name":"IFT74","entity_type":"gene"},{"created":"2023-07-06T14:07:56.319579+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.240","user_name":"Krithika Murali","item_type":"entity","text":"Gene: ift74 has been classified as Green List (High Evidence).","entity_name":"IFT74","entity_type":"gene"},{"created":"2023-07-06T14:07:38.569126+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"1.8","user_name":"Naomi Baker","item_type":"entity","text":"gene: IFT74 was added\ngene: IFT74 was added to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy. Sources: Literature\nMode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT74 were set to PMID: 37315079\nPhenotypes for gene: IFT74 were set to Jeune syndrome (MONDO:0018770), IFT74-related\nReview for gene: IFT74 was set to GREEN\nAdded comment: Five individuals from four families reported. A homozygous exon 2 deletion was identified in two families, and splice variants were identified in the other two families (with minigene experiments demonstrating an effect on splicing of the non-canonical/deep intronic splice variants).\r\n\r\nAuthors also characterised three mouse Ift74 alleles, with phenotypes ranging from a severe mid gestational lethal phenotype in the Ift74Tm1d out of frame exon 3 deletion allele, a post-natal lethal phenotype in the Ift74Tm1a exon 2 skip allele, to no detectable phenotype in Ift74Tm1b in frame exon 3 deletion allele. \nSources: Literature","entity_name":"IFT74","entity_type":"gene"},{"created":"2023-07-06T14:07:28.962030+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.239","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: IFT74 as Green List (high evidence)","entity_name":"IFT74","entity_type":"gene"},{"created":"2023-07-06T14:07:28.944410+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.239","user_name":"Krithika Murali","item_type":"entity","text":"Gene: ift74 has been classified as Green List (High Evidence).","entity_name":"IFT74","entity_type":"gene"},{"created":"2023-07-06T14:07:10.085500+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.238","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: IFT74 as ready","entity_name":"IFT74","entity_type":"gene"},{"created":"2023-07-06T14:07:10.066554+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.238","user_name":"Krithika Murali","item_type":"entity","text":"Gene: ift74 has been removed from the panel.","entity_name":"IFT74","entity_type":"gene"},{"created":"2023-07-06T14:06:52.614569+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.20","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: IFT74 as Green List (high evidence)","entity_name":"IFT74","entity_type":"gene"},{"created":"2023-07-06T14:06:52.603960+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.20","user_name":"Krithika Murali","item_type":"entity","text":"Gene: ift74 has been classified as Green List (High Evidence).","entity_name":"IFT74","entity_type":"gene"},{"created":"2023-07-06T14:06:07.441220+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.205","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: IFT74 as ready","entity_name":"IFT74","entity_type":"gene"},{"created":"2023-07-06T14:06:07.429150+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.205","user_name":"Krithika Murali","item_type":"entity","text":"Gene: ift74 has been classified as Green List (High Evidence).","entity_name":"IFT74","entity_type":"gene"},{"created":"2023-07-06T14:05:56.664821+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.205","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: IFT74 as Green List (high evidence)","entity_name":"IFT74","entity_type":"gene"},{"created":"2023-07-06T14:05:56.657394+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.205","user_name":"Krithika Murali","item_type":"entity","text":"Gene: ift74 has been classified as Green List (High Evidence).","entity_name":"IFT74","entity_type":"gene"},{"created":"2023-07-06T13:48:54.452247+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.19","user_name":"Naomi Baker","item_type":"entity","text":"reviewed gene: IFT74: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37315079; Phenotypes: Jeune syndrome (MONDO:0018770), IFT74-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT74","entity_type":"gene"},{"created":"2023-07-06T13:43:23.351967+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.204","user_name":"Naomi Baker","item_type":"entity","text":"gene: IFT74 was added\ngene: IFT74 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT74 were set to PMID: 37315079\nPhenotypes for gene: IFT74 were set to Jeune syndrome (MONDO:0018770), IFT74-related\nReview for gene: IFT74 was set to GREEN\nAdded comment: Five individuals from four families reported. A homozygous exon 2 deletion was identified in two families, and splice variants were identified in the other two families (with minigene experiments demonstrating an effect on splicing of the non-canonical/deep intronic splice variants).\r\n\r\nAuthors also characterised three mouse Ift74 alleles, with phenotypes ranging from a severe mid gestational lethal phenotype in the Ift74Tm1d out of frame exon 3 deletion allele, a post-natal lethal phenotype in the Ift74Tm1a exon 2 skip allele, to no detectable phenotype in Ift74Tm1b in frame exon 3 deletion allele. \nSources: Literature","entity_name":"IFT74","entity_type":"gene"},{"created":"2023-07-06T13:42:20.485356+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.238","user_name":"Naomi Baker","item_type":"entity","text":"gene: IFT74 was added\ngene: IFT74 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT74 were set to PMID:37315079\nPhenotypes for gene: IFT74 were set to Jeune syndrome (MONDO:0018770), IFT74-related\nReview for gene: IFT74 was set to GREEN\nAdded comment: Five individuals from four families reported. A homozygous exon 2 deletion was identified in two families, and splice variants were identified in the other two families (with minigene experiments demonstrating an effect on splicing of the non-canonical/deep intronic splice variants).\r\n\r\nAuthors also characterised three mouse Ift74 alleles, with phenotypes ranging from a severe mid gestational lethal phenotype in the Ift74Tm1d out of frame exon 3 deletion allele, a post-natal lethal phenotype in the Ift74Tm1a exon 2 skip allele, to no detectable phenotype in Ift74Tm1b in frame exon 3 deletion allele. \nSources: Literature","entity_name":"IFT74","entity_type":"gene"},{"created":"2023-07-06T13:39:29.467253+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.10","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: ANO1 as ready","entity_name":"ANO1","entity_type":"gene"},{"created":"2023-07-06T13:39:29.459115+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.10","user_name":"Krithika Murali","item_type":"entity","text":"Gene: ano1 has been classified as Amber List (Moderate Evidence).","entity_name":"ANO1","entity_type":"gene"},{"created":"2023-07-06T13:39:16.368090+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.10","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: ANO1 as Amber List (moderate evidence)","entity_name":"ANO1","entity_type":"gene"},{"created":"2023-07-06T13:39:16.361350+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.10","user_name":"Krithika Murali","item_type":"entity","text":"Gene: ano1 has been classified as Amber List (Moderate Evidence).","entity_name":"ANO1","entity_type":"gene"},{"created":"2023-07-06T13:39:09.829633+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.9","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: ANO1 as Amber List (moderate evidence)","entity_name":"ANO1","entity_type":"gene"},{"created":"2023-07-06T13:39:09.825333+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.9","user_name":"Krithika Murali","item_type":"entity","text":"Added comment: Comment on list classification: Conflicting functional studies, mechanistic uncertainty, high gnomAD frequency for some variants and incomplete penetrance in family pedigrees noted favouring Amber classification until further supportive evidence available.","entity_name":"ANO1","entity_type":"gene"},{"created":"2023-07-06T13:39:09.776900+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.9","user_name":"Krithika Murali","item_type":"entity","text":"Gene: ano1 has been classified as Amber List (Moderate Evidence).","entity_name":"ANO1","entity_type":"gene"},{"created":"2023-07-06T13:23:10.253052+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.101","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: DKC1 as Green List (high evidence)","entity_name":"DKC1","entity_type":"gene"},{"created":"2023-07-06T13:23:10.243226+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.101","user_name":"Krithika Murali","item_type":"entity","text":"Gene: dkc1 has been classified as Green List (High Evidence).","entity_name":"DKC1","entity_type":"gene"},{"created":"2023-07-06T13:19:59.370679+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1867","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: SART3 as ready","entity_name":"SART3","entity_type":"gene"},{"created":"2023-07-06T13:19:59.365818+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1867","user_name":"Krithika Murali","item_type":"entity","text":"Added comment: Comment when marking as ready: PMID: 37296101 - 3 individuals from 3 unrelated families reported with seizures.","entity_name":"SART3","entity_type":"gene"},{"created":"2023-07-06T13:19:59.329424+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1867","user_name":"Krithika Murali","item_type":"entity","text":"Gene: sart3 has been removed from the panel.","entity_name":"SART3","entity_type":"gene"},{"created":"2023-07-06T13:15:34.622431+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.966","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: SART3 as Green List (high evidence)","entity_name":"SART3","entity_type":"gene"},{"created":"2023-07-06T13:15:34.609428+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.966","user_name":"Krithika Murali","item_type":"entity","text":"Gene: sart3 has been classified as Green List (High Evidence).","entity_name":"SART3","entity_type":"gene"},{"created":"2023-07-06T13:12:36.290078+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.275","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: SART3 as Green List (high evidence)","entity_name":"SART3","entity_type":"gene"},{"created":"2023-07-06T13:12:36.282867+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.275","user_name":"Krithika Murali","item_type":"entity","text":"Gene: sart3 has been classified as Green List (High Evidence).","entity_name":"SART3","entity_type":"gene"},{"created":"2023-07-06T13:10:54.632899+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.274","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: SART3 as ready","entity_name":"SART3","entity_type":"gene"},{"created":"2023-07-06T13:10:54.615531+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.274","user_name":"Krithika Murali","item_type":"entity","text":"Gene: sart3 has been removed from the panel.","entity_name":"SART3","entity_type":"gene"},{"created":"2023-07-06T13:09:14.796165+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.274","user_name":"Daniel Flanagan","item_type":"entity","text":"gene: SART3 was added\ngene: SART3 was added to Differences of Sex Development. Sources: Expert list\nMode of inheritance for gene: SART3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SART3 were set to PMID: 37296101\nPhenotypes for gene: SART3 were set to Neurodevelopmental disorder (MONDO#0700092), SART3-related; 46,XY disorder of sex development (MONDO:0020040), SART3-related\nReview for gene: SART3 was set to GREEN\nAdded comment: Nine individuals from six families presenting with intellectual disability, global developmental delay, a subset of brain anomalies, together with gonadal dysgenesis in 46,XY individuals. Additionally, two individuals had seizures and two had epileptiform activity reported on EEG.\r\n\r\nHuman induced pluripotent stem cells carrying patient variants in SART3 show disruption to multiple signalling pathways, upregulation of spliceosome components and demonstrate aberrant gonadal and neuronal differentiation in vitro. \nSources: Expert list","entity_name":"SART3","entity_type":"gene"},{"created":"2023-07-06T13:08:04.643312+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.965","user_name":"Daniel Flanagan","item_type":"entity","text":"gene: SART3 was added\ngene: SART3 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: SART3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SART3 were set to PMID: 37296101\nPhenotypes for gene: SART3 were set to Neurodevelopmental disorder (MONDO#0700092), SART3-related; 46,XY disorder of sex development (MONDO:0020040), SART3-related\nReview for gene: SART3 was set to GREEN\nAdded comment: Nine individuals from six families presenting with intellectual disability, global developmental delay, a subset of brain anomalies, together with gonadal dysgenesis in 46,XY individuals. Additionally, two individuals had seizures and two had epileptiform activity reported on EEG.\r\n\r\nHuman induced pluripotent stem cells carrying patient variants in SART3 show disruption to multiple signalling pathways, upregulation of spliceosome components and demonstrate aberrant gonadal and neuronal differentiation in vitro. \nSources: Expert list","entity_name":"SART3","entity_type":"gene"},{"created":"2023-07-06T13:07:59.887020+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.40","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: ARPC5 as Green List (high evidence)","entity_name":"ARPC5","entity_type":"gene"},{"created":"2023-07-06T13:07:59.879639+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.40","user_name":"Elena Savva","item_type":"entity","text":"Gene: arpc5 has been classified as Green List (High Evidence).","entity_name":"ARPC5","entity_type":"gene"},{"created":"2023-07-06T13:07:35.837545+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.40","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: ARPC5 as Green List (high evidence)","entity_name":"ARPC5","entity_type":"gene"},{"created":"2023-07-06T13:07:35.807333+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.40","user_name":"Elena Savva","item_type":"entity","text":"Gene: arpc5 has been classified as Green List (High Evidence).","entity_name":"ARPC5","entity_type":"gene"},{"created":"2023-07-06T13:07:35.307963+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.965","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: ARPC5 as Green List (high evidence)","entity_name":"ARPC5","entity_type":"gene"},{"created":"2023-07-06T13:07:35.295253+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.965","user_name":"Elena Savva","item_type":"entity","text":"Gene: arpc5 has been classified as Green List (High Evidence).","entity_name":"ARPC5","entity_type":"gene"},{"created":"2023-07-06T13:07:27.053017+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.964","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: ARPC5 as Green List (high evidence)","entity_name":"ARPC5","entity_type":"gene"},{"created":"2023-07-06T13:07:27.039278+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.964","user_name":"Elena Savva","item_type":"entity","text":"Gene: arpc5 has been classified as Green List (High Evidence).","entity_name":"ARPC5","entity_type":"gene"},{"created":"2023-07-06T13:07:15.033395+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.963","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ARPC5 as ready","entity_name":"ARPC5","entity_type":"gene"},{"created":"2023-07-06T13:07:14.960669+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.963","user_name":"Elena Savva","item_type":"entity","text":"Gene: arpc5 has been removed from the panel.","entity_name":"ARPC5","entity_type":"gene"},{"created":"2023-07-06T13:07:06.168790+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.39","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ARPC5 as ready","entity_name":"ARPC5","entity_type":"gene"},{"created":"2023-07-06T13:07:06.159985+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.39","user_name":"Elena Savva","item_type":"entity","text":"Gene: arpc5 has been removed from the panel.","entity_name":"ARPC5","entity_type":"gene"},{"created":"2023-07-06T13:06:04.349880+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.963","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: NUDCD2 as ready","entity_name":"NUDCD2","entity_type":"gene"},{"created":"2023-07-06T13:06:04.341964+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.963","user_name":"Krithika Murali","item_type":"entity","text":"Gene: nudcd2 has been classified as Amber List (Moderate Evidence).","entity_name":"NUDCD2","entity_type":"gene"},{"created":"2023-07-06T13:06:02.504644+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.963","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: NUDCD2 as ready","entity_name":"NUDCD2","entity_type":"gene"},{"created":"2023-07-06T13:06:02.489736+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.963","user_name":"Seb Lunke","item_type":"entity","text":"Gene: nudcd2 has been classified as Amber List (Moderate Evidence).","entity_name":"NUDCD2","entity_type":"gene"},{"created":"2023-07-06T13:05:49.250560+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1867","user_name":"Daniel Flanagan","item_type":"entity","text":"gene: SART3 was added\ngene: SART3 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: SART3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SART3 were set to PMID: 37296101\nPhenotypes for gene: SART3 were set to Neurodevelopmental disorder (MONDO#0700092), SART3-related; 46,XY disorder of sex development (MONDO:0020040), SART3-related\nReview for gene: SART3 was set to GREEN\nAdded comment: Nine individuals from six families presenting with intellectual disability, global developmental delay, a subset of brain anomalies, together with gonadal dysgenesis in 46,XY individuals. Additionally, two individuals had seizures and two had epileptiform activity reported on EEG.\r\n\r\nHuman induced pluripotent stem cells carrying patient variants in SART3 show disruption to multiple signalling pathways, upregulation of spliceosome components and demonstrate aberrant gonadal and neuronal differentiation in vitro. \nSources: Expert list","entity_name":"SART3","entity_type":"gene"},{"created":"2023-07-06T13:05:46.334812+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.963","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: NUDCD2 as Amber List (moderate evidence)","entity_name":"NUDCD2","entity_type":"gene"},{"created":"2023-07-06T13:05:46.323916+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.963","user_name":"Seb Lunke","item_type":"entity","text":"Gene: nudcd2 has been classified as Amber List (Moderate Evidence).","entity_name":"NUDCD2","entity_type":"gene"},{"created":"2023-07-06T13:05:13.547814+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5256","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: SART3 as Green List (high evidence)","entity_name":"SART3","entity_type":"gene"},{"created":"2023-07-06T13:05:13.536441+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5256","user_name":"Krithika Murali","item_type":"entity","text":"Gene: sart3 has been classified as Green List (High Evidence).","entity_name":"SART3","entity_type":"gene"},{"created":"2023-07-06T13:05:12.627276+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1867","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: RPH3A as Green List (high evidence)","entity_name":"RPH3A","entity_type":"gene"},{"created":"2023-07-06T13:05:12.615949+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1867","user_name":"Elena Savva","item_type":"entity","text":"Gene: rph3a has been classified as Green List (High Evidence).","entity_name":"RPH3A","entity_type":"gene"},{"created":"2023-07-06T13:04:38.036402+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.962","user_name":"Ee Ming Wong","item_type":"entity","text":"gene: NUDCD2 was added\ngene: NUDCD2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NUDCD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUDCD2 were set to 37272762\nPhenotypes for gene: NUDCD2 were set to Multiple congenital anomalies (MONDO:0019042), NUDCD2-related\nPenetrance for gene: NUDCD2 were set to unknown\nReview for gene: NUDCD2 was set to AMBER\ngene: NUDCD2 was marked as current diagnostic\nAdded comment: - Two unrelated probands, each biallelic for two variants in NUDCD2 (total 3x LoF variants, 1x missense variant)\r\n-  Immunoblotting of proteins extracted from the primary fibroblasts of one proband with 2x LoF variants demonstrated markedly reduced NUDCD2 levels compared to healthy individuals \nSources: Literature","entity_name":"NUDCD2","entity_type":"gene"},{"created":"2023-07-06T13:04:26.931664+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5255","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: SART3 as ready","entity_name":"SART3","entity_type":"gene"},{"created":"2023-07-06T13:04:26.864135+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5255","user_name":"Krithika Murali","item_type":"entity","text":"Gene: sart3 has been removed from the panel.","entity_name":"SART3","entity_type":"gene"},{"created":"2023-07-06T13:04:05.190313+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1866","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: RPH3A as Green List (high evidence)","entity_name":"RPH3A","entity_type":"gene"},{"created":"2023-07-06T13:04:05.166189+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1866","user_name":"Elena Savva","item_type":"entity","text":"Gene: rph3a has been classified as Green List (High Evidence).","entity_name":"RPH3A","entity_type":"gene"},{"created":"2023-07-06T13:03:40.084101+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.119","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: NUDCD2 as ready","entity_name":"NUDCD2","entity_type":"gene"},{"created":"2023-07-06T13:03:40.070900+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.119","user_name":"Seb Lunke","item_type":"entity","text":"Gene: nudcd2 has been classified as Amber List (Moderate Evidence).","entity_name":"NUDCD2","entity_type":"gene"},{"created":"2023-07-06T13:03:37.149165+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5255","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: RPH3A as Green List (high evidence)","entity_name":"RPH3A","entity_type":"gene"},{"created":"2023-07-06T13:03:37.141142+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5255","user_name":"Elena Savva","item_type":"entity","text":"Gene: rph3a has been classified as Green List (High Evidence).","entity_name":"RPH3A","entity_type":"gene"},{"created":"2023-07-06T13:03:36.412291+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1866","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: RPH3A as Green List (high evidence)","entity_name":"RPH3A","entity_type":"gene"},{"created":"2023-07-06T13:03:36.384099+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1866","user_name":"Elena Savva","item_type":"entity","text":"Gene: rph3a has been classified as Green List (High Evidence).","entity_name":"RPH3A","entity_type":"gene"},{"created":"2023-07-06T13:03:08.989401+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5255","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: RPH3A as Green List (high evidence)","entity_name":"RPH3A","entity_type":"gene"}]}