{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=618","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=616","results":[{"created":"2023-04-06T12:22:07.331851+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.770","user_name":"Elena Savva","item_type":"entity","text":"Gene: mb has been classified as Green List (High Evidence).","entity_name":"MB","entity_type":"gene"},{"created":"2023-04-06T12:22:02.455439+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.769","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: MB as ready","entity_name":"MB","entity_type":"gene"},{"created":"2023-04-06T12:22:02.427651+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.769","user_name":"Elena Savva","item_type":"entity","text":"Gene: mb has been classified as Red List (Low Evidence).","entity_name":"MB","entity_type":"gene"},{"created":"2023-04-06T12:21:53.384089+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5195","user_name":"Chern Lim","item_type":"entity","text":"gene: ESAM was added\ngene: ESAM was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ESAM were set to 36996813\nPhenotypes for gene: ESAM were set to Neurodevelopmental disorder (MONDO#0700092), ESAM-related\nReview for gene: ESAM was set to GREEN\ngene: ESAM was marked as current diagnostic\nAdded comment: PMID 36996813:\r\n-\tThirteen affected individuals, including four fetuses, from eight unrelated families, with homozygous loss-of-function-type variants in ESAM – 2 of the variants are frameshifts, 1x nonsense, 1x canonical splice.\r\n-\tAffected individuals have profound global developmental delay/unspecified intellectual disability, epilepsy, absent or severely delayed speech, varying degrees of spasticity, ventriculomegaly, and ICH/cerebral calcifications, the latter being also observed in the fetuses.\r\n-\tOne of the frameshift variant c.115del (p.Arg39Glyfs*33), was detected in six individuals from four unrelated families from the same geographic region in Turkey (southeastern Anatolia), suggesting a founder effect.\r\n-\tThe c.451+1G>A variant was detected in three individuals from two independent families with the same ethnic origin (Arab Bedouin) \nSources: Literature","entity_name":"ESAM","entity_type":"gene"},{"created":"2023-04-06T12:21:44.384395+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.523","user_name":"Krithika Murali","item_type":"entity","text":"gene: RNH1 was added\ngene: RNH1 was added to Regression. Sources: Literature\nMode of inheritance for gene: RNH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNH1 were set to PMID: 36935417\nPhenotypes for gene: RNH1 were set to RNH1-related disorder\nReview for gene: RNH1 was set to AMBER\nAdded comment: PMID: 36935417 report two siblings from a consanguineous Somali family with homozygous RNH1 splice site variant (c.615-2A>C) with congenital cataracts, global developmental delay, hypotonia, seizures (focal and generalised) and regression in the context of infection. RT-PCR and RNASeq of skeletal muscle supported exon 7 skipping with an in-frame deletion involving 57 amino acids with reduced expression on Western blot analysis. \nSources: Literature","entity_name":"RNH1","entity_type":"gene"},{"created":"2023-04-06T12:21:27.511057+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.769","user_name":"Elena Savva","item_type":"entity","text":"gene: MB was added\ngene: MB was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MB were set to 35527200; 30918256\nPhenotypes for gene: MB were set to Myopathy, sarcoplasmic body MIM#620286\nMode of pathogenicity for gene: MB was set to Other\nReview for gene: MB was set to GREEN\nAdded comment: PMID: 30918256:\r\n- Recurrent c.292C>T (p.His98Tyr) in fourteen members of six European families with AD progressive myopathy. \r\n- Mutant myoglobin has altered O2 binding, exhibits a faster heme dissociation rate and has a lower reduction potential compared to wild-type myoglobin.\r\n- GOF hypothesised\r\n- 2/3 of myoglobin knockout mice die in utero, 1/3 live to adulthood with little sign of functional effects, likely due to multiple compensatory mechanisms.\r\n\r\nPMID: 35527200:\r\n- single adult patient with myoglobinopathy\r\n- same recurring p.His98Tyr variant \nSources: Literature","entity_name":"MB","entity_type":"gene"},{"created":"2023-04-06T12:20:18.412821+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.350","user_name":"Krithika Murali","item_type":"entity","text":"gene: RNH1 was added\ngene: RNH1 was added to Cataract. Sources: Literature\nMode of inheritance for gene: RNH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNH1 were set to PMID: 36935417\nPhenotypes for gene: RNH1 were set to RNH1-related disease\nReview for gene: RNH1 was set to AMBER\nAdded comment: PMID: 36935417 report two siblings from a consanguineous Somali family with homozygous RNH1 splice site variant (c.615-2A>C) with congenital cataracts, global developmental delay, hypotonia, regression in the context of infection and seizures. RT-PCR and RNASeq of skeletal muscle supported exon 7 skipping with an in-frame deletion involving 57 amino acids with reduced expression on Western blot analysis. \nSources: Literature","entity_name":"RNH1","entity_type":"gene"},{"created":"2023-04-06T12:18:10.714764+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.282","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: POLR1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 36917474; Phenotypes: Leukodystrophy MONDO:0019046, POLR1A related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POLR1A","entity_type":"gene"},{"created":"2023-04-06T12:18:00.352569+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.768","user_name":"Paul De Fazio","item_type":"entity","text":"gene: FILIP1 was added\ngene: FILIP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FILIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FILIP1 were set to 36943452\nPhenotypes for gene: FILIP1 were set to Arthrogryposis multiplex congenita MONDO:0015168\nPenetrance for gene: FILIP1 were set to unknown\nReview for gene: FILIP1 was set to GREEN\ngene: FILIP1 was marked as current diagnostic\nAdded comment: 3 families, all consanguineous, reported with 3 different homozygous loss of function variants (2x NMD-predicted nonsense, 1x intragenic deletion of exons 3-6 of 6). In one family, the variant segregated in 3 affected siblings.\r\n\r\nPhenotypes consist of congenital contractures affecting shoulder, elbow, hand, hip, knee and foot as well as scoliosis, reduced palmar and plantar skin folds, microcephaly (-1.5 to -4 SD), and facial dysmorphism. \nSources: Literature","entity_name":"FILIP1","entity_type":"gene"},{"created":"2023-04-06T12:16:22.086813+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.195","user_name":"Paul De Fazio","item_type":"entity","text":"gene: FILIP1 was added\ngene: FILIP1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: FILIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FILIP1 were set to 36943452\nPhenotypes for gene: FILIP1 were set to Arthrogryposis multiplex congenita MONDO:0015168\nPenetrance for gene: FILIP1 were set to unknown\nReview for gene: FILIP1 was set to GREEN\ngene: FILIP1 was marked as current diagnostic\nAdded comment: 3 families, all consanguineous, reported with 3 different homozygous loss of function variants (2x NMD-predicted nonsense, 1x intragenic deletion of exons 3-6 of 6). In one family, the variant segregated in 3 affected siblings.\r\n\r\nPhenotypes consist of congenital contractures affecting shoulder, elbow, hand, hip, knee and foot as well as scoliosis, reduced palmar and plantar skin folds, microcephaly (-1.5 to -4 SD), and facial dysmorphism. \nSources: Literature","entity_name":"FILIP1","entity_type":"gene"},{"created":"2023-04-06T12:15:46.214751+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.232","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PKDCC were changed from Rhizomelia; dysmorphism to Rhizomelic limb shortening with dysmorphic features, MIM# 618821","entity_name":"PKDCC","entity_type":"gene"},{"created":"2023-04-06T12:15:12.678433+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.231","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PKDCC were set to 30478137; 19097194","entity_name":"PKDCC","entity_type":"gene"},{"created":"2023-04-06T12:14:37.809471+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PKDCC as Green List (high evidence)","entity_name":"PKDCC","entity_type":"gene"},{"created":"2023-04-06T12:14:37.802111+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pkdcc has been classified as Green List (High Evidence).","entity_name":"PKDCC","entity_type":"gene"},{"created":"2023-04-06T12:14:18.293802+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.392","user_name":"Paul De Fazio","item_type":"entity","text":"gene: FILIP1 was added\ngene: FILIP1 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: FILIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FILIP1 were set to 36943452\nPhenotypes for gene: FILIP1 were set to Arthrogryposis multiplex congenita  MONDO:0015168\nPenetrance for gene: FILIP1 were set to unknown\nReview for gene: FILIP1 was set to GREEN\ngene: FILIP1 was marked as current diagnostic\nAdded comment: 3 families, all consanguineous, reported with 3 different homozygous loss of function variants (2x NMD-predicted nonsense, 1x intragenic deletion of exons 3-6 of 6). In one family, the variant segregated in 3 affected siblings.\r\n\r\nPhenotypes consist of congenital contractures affecting shoulder, elbow, hand, hip, knee and foot as well as scoliosis, reduced palmar and plantar skin folds, microcephaly (-1.5 to -4 SD), and facial dysmorphism. \nSources: Literature","entity_name":"FILIP1","entity_type":"gene"},{"created":"2023-04-06T12:13:54.057696+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PKDCC: Changed rating: GREEN; Changed publications: 30478137, 19097194, 36896672; Changed phenotypes: Rhizomelic limb shortening with dysmorphic features, MIM# 618821","entity_name":"PKDCC","entity_type":"gene"},{"created":"2023-04-06T12:13:49.798859+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.768","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PKDCC were changed from Dysmorphism; shortening of extremities to Rhizomelic limb shortening with dysmorphic features, MIM# 618821","entity_name":"PKDCC","entity_type":"gene"},{"created":"2023-04-06T12:13:20.747180+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.767","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PKDCC were set to PMID:30478137; 19097194","entity_name":"PKDCC","entity_type":"gene"},{"created":"2023-04-06T12:12:39.704219+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.766","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PKDCC as Green List (high evidence)","entity_name":"PKDCC","entity_type":"gene"},{"created":"2023-04-06T12:12:39.686287+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.766","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pkdcc has been classified as Green List (High Evidence).","entity_name":"PKDCC","entity_type":"gene"},{"created":"2023-04-06T12:12:20.361331+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.765","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PKDCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 36896672; Phenotypes: Rhizomelic limb shortening with dysmorphic features 618821; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PKDCC","entity_type":"gene"},{"created":"2023-04-06T11:33:56.619895+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.765","user_name":"Chern Lim","item_type":"entity","text":"changed review comment from: PMID: 36303204:\r\n- 1x Brugada patient with heterozygous R107X (NMD-predicted, 5 hets in gnomADv3), regarded as ACMG-LP.\r\n\r\nPMID: 19646991:\r\n- NPPA S64R missense in one fam with familial AF, heterozygous in two affected family members but was absent in unaffected family members and their controls. This variant has 195 hets in gnomADv3.\r\n\r\nPMID: 23275345:\r\n- Segregation of the homozygous p.R150Q mutation of the NPPA gene with the phenotype in the 6 families with autosomal recessive AD cardiomyopathy (ADCM). This variant has no homozygotes in gnomAD.\r\n\r\nClinGen gene curation: for autosomal recessive DCM - No Known Disease Relationship (09/04/2020).; to: PMID: 36303204:\r\n- 1x Brugada patient with heterozygous R107X (NMD-predicted, 5 hets in gnomADv3), regarded as ACMG-LP.\r\n\r\nPMID: 19646991:\r\n- NPPA S64R missense in one fam with familial AF, heterozygous in two affected family members but was absent in unaffected family members and their controls. This variant has >200 hets in gnomADv3.\r\n\r\nPMID: 23275345:\r\n- Segregation of the homozygous p.R150Q mutation of the NPPA gene with the phenotype in the 6 families with autosomal recessive AD cardiomyopathy (ADCM). This variant has no homozygotes in gnomAD.\r\n\r\nClinGen gene curation: for autosomal recessive DCM - No Known Disease Relationship (09/04/2020).","entity_name":"NPPA","entity_type":"gene"},{"created":"2023-04-06T10:59:37.261343+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.157","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PPCS as ready","entity_name":"PPCS","entity_type":"gene"},{"created":"2023-04-06T10:59:37.248211+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.157","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ppcs has been classified as Green List (High Evidence).","entity_name":"PPCS","entity_type":"gene"},{"created":"2023-04-06T10:59:31.239801+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.157","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: PPCS: Rating: GREEN; Mode of pathogenicity: None; Publications: 35616428, 29754768; Phenotypes: Cardiomyopathy, dilated, 2C, MIM# 618189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PPCS","entity_type":"gene"},{"created":"2023-04-06T10:59:20.143197+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.765","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: PPCS were set to 29754768","entity_name":"PPCS","entity_type":"gene"},{"created":"2023-04-06T10:58:06.709065+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.16","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PPCS as Red List (low evidence)","entity_name":"PPCS","entity_type":"gene"},{"created":"2023-04-06T10:58:06.703287+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.16","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: This gene is associated with early-onset DCM and is not suitable for this panel which contains genes associated with adolescent and adult-onset DCM","entity_name":"PPCS","entity_type":"gene"},{"created":"2023-04-06T10:58:06.666631+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.16","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ppcs has been classified as Red List (Low Evidence).","entity_name":"PPCS","entity_type":"gene"},{"created":"2023-04-06T10:54:57.861867+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.764","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PPCS as Green List (high evidence)","entity_name":"PPCS","entity_type":"gene"},{"created":"2023-04-06T10:54:57.837188+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.764","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ppcs has been classified as Green List (High Evidence).","entity_name":"PPCS","entity_type":"gene"},{"created":"2023-04-06T10:54:36.475643+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.763","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: PPCS: Rating: GREEN; Mode of pathogenicity: None; Publications: 35616428, 29754768; Phenotypes: Cardiomyopathy, dilated, 2C, MIM# 618189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PPCS","entity_type":"gene"},{"created":"2023-04-06T10:34:33.312885+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.763","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PPCDC as ready","entity_name":"PPCDC","entity_type":"gene"},{"created":"2023-04-06T10:34:33.300277+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.763","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ppcdc has been classified as Red List (Low Evidence).","entity_name":"PPCDC","entity_type":"gene"},{"created":"2023-04-06T10:28:12.774146+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.763","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PPCDC was added\ngene: PPCDC was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PPCDC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPCDC were set to 36564894\nPhenotypes for gene: PPCDC were set to dilated cardiomyopathy MONDO:0005021\nReview for gene: PPCDC was set to RED\nAdded comment: Single family reported with two siblings with a fatal cardiac phenotype including dilated cardiomyopathy with biallelic variants p.Thr53Pro and p.Ala95Val. Patient-derived fibroblasts showed an absence of PPCDC protein, and nearly 50% reductions in CoA levels. The cells showed clear energy deficiency problems, with defects in mitochondrial respiration, and mostly glycolytic ATP synthesis. Functional studies performed in yeast suggest these mutations to be functionally relevant. \nSources: Literature","entity_name":"PPCDC","entity_type":"gene"},{"created":"2023-04-06T10:15:02.982147+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.762","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ELOC as ready","entity_name":"ELOC","entity_type":"gene"},{"created":"2023-04-06T10:15:02.970687+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.762","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: eloc has been classified as Red List (Low Evidence).","entity_name":"ELOC","entity_type":"gene"},{"created":"2023-04-06T10:14:52.788237+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.762","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ELOC as Red List (low evidence)","entity_name":"ELOC","entity_type":"gene"},{"created":"2023-04-06T10:14:52.777338+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.762","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: eloc has been classified as Red List (Low Evidence).","entity_name":"ELOC","entity_type":"gene"},{"created":"2023-04-06T10:14:19.212767+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.761","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: EPHA10 as ready","entity_name":"EPHA10","entity_type":"gene"},{"created":"2023-04-06T10:14:19.189883+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.761","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: epha10 has been classified as Red List (Low Evidence).","entity_name":"EPHA10","entity_type":"gene"},{"created":"2023-04-06T10:13:48.780456+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.761","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: EPHA10 as Red List (low evidence)","entity_name":"EPHA10","entity_type":"gene"},{"created":"2023-04-06T10:13:48.745981+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.761","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: epha10 has been classified as Red List (Low Evidence).","entity_name":"EPHA10","entity_type":"gene"},{"created":"2023-04-06T10:12:10.597444+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.760","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: RNF212B as ready","entity_name":"RNF212B","entity_type":"gene"},{"created":"2023-04-06T10:12:10.574516+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.760","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rnf212b has been classified as Amber List (Moderate Evidence).","entity_name":"RNF212B","entity_type":"gene"},{"created":"2023-04-06T10:12:02.749039+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.760","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: RNF212B as Amber List (moderate evidence)","entity_name":"RNF212B","entity_type":"gene"},{"created":"2023-04-06T10:12:02.740389+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.760","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rnf212b has been classified as Amber List (Moderate Evidence).","entity_name":"RNF212B","entity_type":"gene"},{"created":"2023-04-06T10:11:12.732159+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.759","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SLC25A36 as ready","entity_name":"SLC25A36","entity_type":"gene"},{"created":"2023-04-06T10:11:12.719916+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.759","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: slc25a36 has been classified as Green List (High Evidence).","entity_name":"SLC25A36","entity_type":"gene"},{"created":"2023-04-06T10:10:47.431780+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.759","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SLC25A36 as Green List (high evidence)","entity_name":"SLC25A36","entity_type":"gene"},{"created":"2023-04-06T10:10:47.421809+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.759","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: slc25a36 has been classified as Green List (High Evidence).","entity_name":"SLC25A36","entity_type":"gene"},{"created":"2023-04-06T06:39:35.085782+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5195","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NCAPG2 as Amber List (moderate evidence)","entity_name":"NCAPG2","entity_type":"gene"},{"created":"2023-04-06T06:39:35.075592+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5195","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ncapg2 has been classified as Amber List (Moderate Evidence).","entity_name":"NCAPG2","entity_type":"gene"},{"created":"2023-04-06T06:39:15.519295+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5195","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NCAPG2 as Amber List (moderate evidence)","entity_name":"NCAPG2","entity_type":"gene"},{"created":"2023-04-06T06:39:15.508542+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5195","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ncapg2 has been classified as Amber List (Moderate Evidence).","entity_name":"NCAPG2","entity_type":"gene"},{"created":"2023-04-06T06:38:39.430141+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5194","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NCAPG2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Khan-Khan-Katsanis syndrome, MIM# 618460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NCAPG2","entity_type":"gene"},{"created":"2023-04-06T06:37:41.711802+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.758","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NCAPG2 as Amber List (moderate evidence)","entity_name":"NCAPG2","entity_type":"gene"},{"created":"2023-04-06T06:37:41.701623+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.758","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ncapg2 has been classified as Amber List (Moderate Evidence).","entity_name":"NCAPG2","entity_type":"gene"},{"created":"2023-04-06T06:37:21.846901+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.757","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Two families and functional evidence (zebrafish model). \nSources: Literature; to: Two families and functional evidence (zebrafish model). Rated as LIMITED by ClinGen; one of the families had a homozygous missense variant. Internal case identified by VCGS but dual diagnosis.\r\nSources: Literature","entity_name":"NCAPG2","entity_type":"gene"},{"created":"2023-04-06T06:36:24.574213+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.757","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NCAPG2: Changed rating: AMBER; Changed phenotypes: Khan-Khan-Katsanis syndrome, MIM# 618460","entity_name":"NCAPG2","entity_type":"gene"},{"created":"2023-04-05T17:53:13.951218+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.757","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: NPPA: Rating: AMBER; Mode of pathogenicity: None; Publications: 36303204, 19646991, 23275345; Phenotypes: Atrial fibrillation, familial, 6 (MIM#612201), AD, Atrial standstill 2 (MIM#615745), AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NPPA","entity_type":"gene"},{"created":"2023-04-05T17:48:29.448730+10:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"1.1","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: NPPA: Rating: AMBER; Mode of pathogenicity: None; Publications: 36303204, 19646991, 23275345; Phenotypes: Atrial fibrillation, familial, 6 (MIM#612201), AD, Atrial standstill 2 (MIM#615745), AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NPPA","entity_type":"gene"},{"created":"2023-04-05T15:36:59.515772+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.229","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: UBQLN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21857683, 31319884, 26152284, 25388785; Phenotypes: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (MONDO: 0010459, MIM#300857); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"UBQLN2","entity_type":"gene"},{"created":"2023-04-05T15:06:58.172538+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.8","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: STIL as Green List (high evidence)","entity_name":"STIL","entity_type":"gene"},{"created":"2023-04-05T15:06:58.161668+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.8","user_name":"Chirag Patel","item_type":"entity","text":"Gene: stil has been classified as Green List (High Evidence).","entity_name":"STIL","entity_type":"gene"},{"created":"2023-04-05T15:06:29.553913+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.7","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: STIL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25658757; Phenotypes: Holoprosencephaly and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STIL","entity_type":"gene"},{"created":"2023-04-05T14:22:20.802402+10:00","panel_name":"Adult Cardiac SuperPanel","panel_id":4059,"panel_version":"1.0","user_name":"Bryony Thompson","item_type":"panel","text":"Added Panel Adult Cardiac SuperPanel\nSet list of related panels to Cardiomyopathy; HP:0001638; Abnormality of the myocardium; HP:0001637; Arrhythmia; HP:0011675\nSet child panels to: Dilated Cardiomyopathy; Short QT syndrome; Atrial Fibrillation; Sick sinus syndrome; Hypertrophic cardiomyopathy_HCM; Arrhythmogenic Cardiomyopathy; Long QT Syndrome; Brugada syndrome; Catecholaminergic Polymorphic Ventricular Tachycardia; Ventricular Fibrillation\nSet panel types to: Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2023-04-05T14:21:23.598493+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.229","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: TARDBP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18309045, 19609911; Phenotypes: Amyotrophic lateral sclerosis 10, with or without FTD, Frontotemporal lobar degeneration, TARDBP-related (MIM#612069, MONDO: 0012790); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TARDBP","entity_type":"gene"},{"created":"2023-04-05T13:34:58.870091+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.229","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: SORL1: Rating: RED; Mode of pathogenicity: Other; Publications: 17564960; Phenotypes: ; Mode of inheritance: Unknown","entity_name":"SORL1","entity_type":"gene"},{"created":"2023-04-05T13:17:45.530144+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.229","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: SNCAIP: Rating: RED; Mode of pathogenicity: None; Publications: 18366718; Phenotypes: ; Mode of inheritance: Unknown","entity_name":"SNCAIP","entity_type":"gene"},{"created":"2023-04-05T12:51:43.538718+10:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"1.6","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: PORCN was added\ngene: PORCN was added to Mosaic skin disorders. Sources: NHS GMS\nMode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: PORCN were set to 17546030; 19309688\nPhenotypes for gene: PORCN were set to Focal dermal hypoplasia (MONDO:0010592; MIM#305600)\nMode of pathogenicity for gene: PORCN was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: PORCN was set to GREEN\nAdded comment: Well established gene associated with Focal Dermal Hypoplasia (FDH). Predominantly reported in females (male lethality). \r\n\r\nPMID: 19309688 - 24 unrelated patients (21 female and 3 male) with focal dermal hypoplasia (FDH) were studied. A variety of variants (nonsense, splice site and missense) were identified while 3 cases with skewed X inactivation had microdeletions eliminating PORCN. The 3 male cases were shown to be a result of postzygotic mosaicism which was also identified in 2 female cases. \r\n\r\nPMID: 17546030 - 10 of 15 confirmed with FDH were analysed and heterozygous (missense, nonsense, indels) mutations causative of FDH was identified. In 9 cases, variants weren't detected in parental samples. A mildy affected father of 1 case showed somatic mosaicism for this variant while they identified de novo mosaic mutations in 3 male FDH cases but not in their parents. \nSources: NHS GMS","entity_name":"PORCN","entity_type":"gene"},{"created":"2023-04-05T12:18:12.905280+10:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"1.6","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: BRAF was added\ngene: BRAF was added to Mosaic skin disorders. Sources: NHS GMS\nMode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BRAF were set to 31111470\nPhenotypes for gene: BRAF were set to Melanocytic naevus syndrome (MONDO:0044792; MIM#137550)\nMode of pathogenicity for gene: BRAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nAdded comment: More than 3 unrelated cases with tissue specific mosaic variants.\r\n\r\n7 cases with congenital melanocytic naevi (CMN) identified a BRAF missense mutation (p.V600E) from naevus biopsies. \r\nSanger sequencing of mutant BRAF (p.V600E) naevus cultured cells showed confirmed heterozygosity with an increase in somatic load compared to those extracted directly from whole tissue from CMN. \r\nExpression of the BRAF variant protein in all naevus cells was identified using immunohistochemistry. \nSources: NHS GMS","entity_name":"BRAF","entity_type":"gene"},{"created":"2023-04-05T11:46:26.887190+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.757","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: RNF212B was added\ngene: RNF212B was added to Mendeliome. Sources: Other\nMode of inheritance for gene: RNF212B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNF212B were set to https://doi.org/10.1016/j.xhgg.2023.100189\nPhenotypes for gene: RNF212B were set to Infertility disorder, MONDO:0005047\nReview for gene: RNF212B was set to AMBER\nAdded comment: Homozygous nonsense mutation (R150X) causative of oligoasthenotheratozoospermia (OAT) identified in three unrelated individuals (two of Jewish decent from the same consanguineous family).\r\n\r\nDrosophila ZIP3/RNF212 related gene paralogs (vilya, narya, nenya) showed loss of function in the RNF212B protein and promoted formation of DNA double-stand breaks. The mutant was shown to result in a reduction in fertility in the Drosophila paralogs. \r\n\r\nNote: RNF212B is reported to be exclusively expressed in the testes only compared to RNF212 which is reported in both the testes and ovaries. \nSources: Other","entity_name":"RNF212B","entity_type":"gene"},{"created":"2023-04-05T10:33:27.508719+10:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"1.6","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CSPP1 as ready","entity_name":"CSPP1","entity_type":"gene"},{"created":"2023-04-05T10:33:27.497165+10:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"1.6","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cspp1 has been classified as Red List (Low Evidence).","entity_name":"CSPP1","entity_type":"gene"},{"created":"2023-04-05T10:33:20.751679+10:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"1.6","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GJA1 as ready","entity_name":"GJA1","entity_type":"gene"},{"created":"2023-04-05T10:33:20.742697+10:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"1.6","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gja1 has been classified as Red List (Low Evidence).","entity_name":"GJA1","entity_type":"gene"},{"created":"2023-04-05T10:33:16.633920+10:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"1.6","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GJA1 as Red List (low evidence)","entity_name":"GJA1","entity_type":"gene"},{"created":"2023-04-05T10:33:16.621329+10:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"1.6","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gja1 has been classified as Red List (Low Evidence).","entity_name":"GJA1","entity_type":"gene"},{"created":"2023-04-05T10:33:00.528103+10:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"1.5","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CSPP1 as Red List (low evidence)","entity_name":"CSPP1","entity_type":"gene"},{"created":"2023-04-05T10:33:00.503750+10:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"1.5","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cspp1 has been classified as Red List (Low Evidence).","entity_name":"CSPP1","entity_type":"gene"},{"created":"2023-04-05T10:32:45.972155+10:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"1.4","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: CARD14 were set to ","entity_name":"CARD14","entity_type":"gene"},{"created":"2023-04-05T10:32:34.972249+10:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"1.3","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of pathogenicity for gene: CARD14 was changed from  to Other","entity_name":"CARD14","entity_type":"gene"},{"created":"2023-04-05T10:32:26.667907+10:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"1.2","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CARD14 as Amber List (moderate evidence)","entity_name":"CARD14","entity_type":"gene"},{"created":"2023-04-05T10:32:26.664385+10:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"1.2","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Now published data, but only 2 cases","entity_name":"CARD14","entity_type":"gene"},{"created":"2023-04-05T10:32:26.636752+10:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"1.2","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: card14 has been classified as Amber List (Moderate Evidence).","entity_name":"CARD14","entity_type":"gene"},{"created":"2023-04-04T16:18:12.104126+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.50","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAM111A as ready","entity_name":"FAM111A","entity_type":"gene"},{"created":"2023-04-04T16:18:12.084512+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.50","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fam111a has been classified as Green List (High Evidence).","entity_name":"FAM111A","entity_type":"gene"},{"created":"2023-04-04T16:15:50.725916+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.50","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FAM111A as Green List (high evidence)","entity_name":"FAM111A","entity_type":"gene"},{"created":"2023-04-04T16:15:50.718774+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.50","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fam111a has been classified as Green List (High Evidence).","entity_name":"FAM111A","entity_type":"gene"},{"created":"2023-04-04T16:12:13.164228+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.49","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ERCC8 were set to 26204423","entity_name":"ERCC8","entity_type":"gene"},{"created":"2023-04-04T16:11:29.936228+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.48","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ERCC6 were set to ","entity_name":"ERCC6","entity_type":"gene"},{"created":"2023-04-04T16:11:21.823587+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.47","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC5 as ready","entity_name":"ERCC5","entity_type":"gene"},{"created":"2023-04-04T16:11:21.811686+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.47","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc5 has been classified as Red List (Low Evidence).","entity_name":"ERCC5","entity_type":"gene"},{"created":"2023-04-04T16:10:37.990489+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.47","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ERCC5 as Red List (low evidence)","entity_name":"ERCC5","entity_type":"gene"},{"created":"2023-04-04T16:10:37.977591+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.47","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc5 has been classified as Red List (Low Evidence).","entity_name":"ERCC5","entity_type":"gene"},{"created":"2023-04-04T16:10:30.975260+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.46","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC3 as ready","entity_name":"ERCC3","entity_type":"gene"},{"created":"2023-04-04T16:10:30.962251+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.46","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc3 has been classified as Red List (Low Evidence).","entity_name":"ERCC3","entity_type":"gene"},{"created":"2023-04-04T16:09:40.662216+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.46","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERCC3 were changed from  to Xeroderma pigmentosum, group B, MIM# 610651","entity_name":"ERCC3","entity_type":"gene"},{"created":"2023-04-04T16:09:19.459211+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.45","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ECM1 as ready","entity_name":"ECM1","entity_type":"gene"}]}