{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1775","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1773","results":[{"created":"2020-06-04T11:55:43.859856+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3000","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COG4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"COG4","entity_type":"gene"},{"created":"2020-06-04T11:55:20.988227+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2999","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31949312, 30290151, 19494034, 21185756; Phenotypes: Saul-Wilson syndrome, OMIM #618150, Congenital disorder of glycosylation, type IIj, OMIM #613489; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"COG4","entity_type":"gene"},{"created":"2020-06-04T11:47:02.693563+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COG4 as ready","entity_name":"COG4","entity_type":"gene"},{"created":"2020-06-04T11:47:02.679561+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cog4 has been classified as Green List (High Evidence).","entity_name":"COG4","entity_type":"gene"},{"created":"2020-06-04T11:46:59.769594+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COG4 were changed from  to Congenital disorder of glycosylation, type IIj 613489","entity_name":"COG4","entity_type":"gene"},{"created":"2020-06-04T11:46:30.027358+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COG4 were set to ","entity_name":"COG4","entity_type":"gene"},{"created":"2020-06-04T11:46:00.743767+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"COG4","entity_type":"gene"},{"created":"2020-06-04T11:45:30.065470+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21185756, 19494034; Phenotypes: Congenital disorder of glycosylation, type IIj 613489; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COG4","entity_type":"gene"},{"created":"2020-06-04T11:38:16.988758+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COG4 as ready","entity_name":"COG4","entity_type":"gene"},{"created":"2020-06-04T11:38:16.979714+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cog4 has been classified as Green List (High Evidence).","entity_name":"COG4","entity_type":"gene"},{"created":"2020-06-04T11:38:10.785150+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COG4 were set to Saul-Wilson syndrome, OMIM #618150; Congenital disorder of glycosylation, type IIj, OMIM #613489","entity_name":"COG4","entity_type":"gene"},{"created":"2020-06-04T11:37:30.384807+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COG4 were changed from PMID: 31949312; 30290151 to Saul-Wilson syndrome, OMIM #618150; Congenital disorder of glycosylation, type IIj, OMIM #613489","entity_name":"COG4","entity_type":"gene"},{"created":"2020-06-04T11:32:36.070334+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NR2F2 as ready","entity_name":"NR2F2","entity_type":"gene"},{"created":"2020-06-04T11:32:36.058691+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nr2f2 has been classified as Green List (High Evidence).","entity_name":"NR2F2","entity_type":"gene"},{"created":"2020-06-04T11:32:28.247514+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NR2F2 as Green List (high evidence)","entity_name":"NR2F2","entity_type":"gene"},{"created":"2020-06-04T11:32:28.235580+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nr2f2 has been classified as Green List (High Evidence).","entity_name":"NR2F2","entity_type":"gene"},{"created":"2020-06-04T11:31:58.492976+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NR2F2 was added\ngene: NR2F2 was added to Disorders of Sex Differentiation. Sources: Expert list\nMode of inheritance for gene: NR2F2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NR2F2 were set to 29478779; 31687637\nPhenotypes for gene: NR2F2 were set to 46,XX disorder of sex development (DSD) and congenital heart defects\nReview for gene: NR2F2 was set to GREEN\nAdded comment: Four unrelated individuals reported. Note two had the same 7bp deletion, c.97_103delCCGCCCG, NM_021005.3, and the third individual had an adjacent deletion, c.103_109delGGCGCCC, NM_021005.3. All three were of very different ancestries, making founder effect unlikely. Fourth individual had a larger deletion encompassing this gene. Gene is also linked with isolated CHD (Congenital heart defects, multiple types, 4, MIM#\t615779) \nSources: Expert list","entity_name":"NR2F2","entity_type":"gene"},{"created":"2020-06-04T10:58:38.977379+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.58","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ADCY6 as Green List (high evidence)","entity_name":"ADCY6","entity_type":"gene"},{"created":"2020-06-04T10:58:38.969441+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.58","user_name":"Chirag Patel","item_type":"entity","text":"Gene: adcy6 has been classified as Green List (High Evidence).","entity_name":"ADCY6","entity_type":"gene"},{"created":"2020-06-04T10:58:09.392862+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.57","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ADCY6 as Green List (high evidence)","entity_name":"ADCY6","entity_type":"gene"},{"created":"2020-06-04T10:58:09.379892+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.57","user_name":"Chirag Patel","item_type":"entity","text":"Gene: adcy6 has been classified as Green List (High Evidence).","entity_name":"ADCY6","entity_type":"gene"},{"created":"2020-06-04T10:57:28.083637+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.56","user_name":"Chirag Patel","item_type":"entity","text":"gene: ADCY6 was added\ngene: ADCY6 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: ADCY6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADCY6 were set to PMID: 24319099, 26257172, 31846058\nPhenotypes for gene: ADCY6 were set to ?Lethal congenital contracture syndrome 8, OMIM # 616287\nReview for gene: ADCY6 was set to GREEN\nAdded comment: Laquerriere et al. (2014): 2 sibs from a consanguineous family with an axoglial form of lethal congenital contracture syndrome, and homozygous missense ADCY6 mutation (R1116C). The parents were heterozygous for the mutation. Knocked down ADCY6 orthologs in zebrafish showed a loss of myelin basic protein expression in the peripheral nervous system but no defects in Schwann cell migration and axonal growth. \r\n\r\nGonzaga‐Jauregui et al. (2015): 1 patient with congenital hypotonia, distal joint contractures, hypomyelinating neuropathy, and vocal cord paralysis, and a homozygous missense ADCY6 variant. No functional studies. Deceased sister with a similar phenotype with hypotonia, areflexia, and hypomyelinating neuropathy who died at 18 months of respiratory insufficiency.\r\n \r\nAgolini et al. (2020): 1 patient with severe form of AMC, with two novel compound heterozygous variants in ADCY6 (parents confirmed carriers), but no functional studies. \nSources: Literature","entity_name":"ADCY6","entity_type":"gene"},{"created":"2020-06-04T10:46:14.938277+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2665","user_name":"Chirag Patel","item_type":"entity","text":"gene: DSCR3 was added\ngene: DSCR3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: DSCR3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DSCR3 were set to PMID: 31845315\nPhenotypes for gene: DSCR3 were set to Intellectual disability, no OMIM # yet\nReview for gene: DSCR3 was set to RED\nAdded comment: 1 family/2 cousins with cognitive impairment, growth failure, skeletal abnormalities, and distinctive facial features. Both shared the homozygous nonsense variant c.178G>T (p.Glu60*) in the VPS26C gene. This gene encodes VPS26C, a member of the retriever integral membrane protein recycling pathway. The nature of the variant which is predicted to result in loss‐of‐function, expression studies revealing significant reduction in the mutant transcript, and the co‐segregation of the homozygous variant with the phenotype in two affected individuals. \nSources: Literature","entity_name":"DSCR3","entity_type":"gene"},{"created":"2020-06-04T10:36:33.783447+10:00","panel_name":"Oligodontia","panel_id":148,"panel_version":"0.5","user_name":"Chirag Patel","item_type":"entity","text":"gene: LEF1 was added\ngene: LEF1 was added to Oligodontia. Sources: Literature\nMode of inheritance for gene: LEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LEF1 were set to PMID: 32022899\nPhenotypes for gene: LEF1 were set to Ectodermal dysplasia, no OMIM# yet\nReview for gene: LEF1 was set to RED\nAdded comment: In mice, targeted inactivation of the LEF1 gene results in a complete block of development of multiple ectodermal appendages. One report of two unrelated patients with 4q25 de novo deletion encompassing LEF1 , associated with severe oligodontia of primary and permanent dentition, hypotrichosis and hypohidrosis compatible with hypohidrotic ectodermal dysplasia. So far, no pathogenic variants or variations involving the LEF1 gene have been reported in human. \nSources: Literature","entity_name":"LEF1","entity_type":"gene"},{"created":"2020-06-04T10:36:14.664367+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.24","user_name":"Chirag Patel","item_type":"entity","text":"gene: LEF1 was added\ngene: LEF1 was added to Ectodermal Dysplasia. Sources: Literature\nMode of inheritance for gene: LEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LEF1 were set to PMID: 32022899\nPhenotypes for gene: LEF1 were set to Ectodermal dysplasia, no OMIM# yet\nAdded comment: In mice, targeted inactivation of the LEF1 gene results in a complete block of development of multiple ectodermal appendages. One report of two unrelated patients with 4q25 de novo deletion encompassing LEF1 , associated with severe oligodontia of primary and permanent dentition, hypotrichosis and hypohidrosis compatible with hypohidrotic ectodermal dysplasia. So far, no pathogenic variants or variations involving the LEF1 gene have been reported in human. \nSources: Literature","entity_name":"LEF1","entity_type":"gene"},{"created":"2020-06-04T10:28:55.212541+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2664","user_name":"Chirag Patel","item_type":"entity","text":"gene: OTUD7A was added\ngene: OTUD7A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: OTUD7A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OTUD7A were set to PMID: 31997314\nPhenotypes for gene: OTUD7A were set to Epileptic encephalopathy, no OMIM# yet\nReview for gene: OTUD7A was set to RED\nAdded comment: One patient with severe global developmental delay, language impairment and epileptic encephalopathy. Homozygous OTUD7A missense variant (c.697C>T, p.Leu233Phe), predicted to alter an ultraconserved amino acid, lying within the OTU catalytic domain. Its subsequent segregation analysis revealed that the parents, presenting with learning disability, and brother were heterozygous carriers. Biochemical assays demonstrated that proteasome complex formation and function were significantly reduced in patient‐derived fibroblasts and in OTUD7A knockout HAP1 cell line. We provide evidence that biallelic pathogenic OTUD7A variation is linked to early‐onset epileptic encephalopathy and proteasome dysfunction. Gene lies in the chromosome 15q13.3 region. Heterozygous microdeletions of chromosome 15q13.3 show incomplete penetrance and are associated with a highly variable phenotype that may include intellectual disability, epilepsy, facial dysmorphism and digit anomalies. \nSources: Literature","entity_name":"OTUD7A","entity_type":"gene"},{"created":"2020-06-04T10:27:40.242706+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.714","user_name":"Chirag Patel","item_type":"entity","text":"gene: OTUD7A was added\ngene: OTUD7A was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: OTUD7A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OTUD7A were set to PMID: 31997314\nPhenotypes for gene: OTUD7A were set to Epileptic encephalopathy, no OMIM# yet\nReview for gene: OTUD7A was set to RED\nAdded comment: One patient with severe global developmental delay, language impairment and epileptic encephalopathy. Homozygous OTUD7A missense variant (c.697C>T, p.Leu233Phe), predicted to alter an ultraconserved amino acid, lying within the OTU catalytic domain. Its subsequent segregation analysis revealed that the parents, presenting with learning disability, and brother were heterozygous carriers. Biochemical assays demonstrated that proteasome complex formation and function were significantly reduced in patient‐derived fibroblasts and in OTUD7A knockout HAP1 cell line. We provide evidence that biallelic pathogenic OTUD7A variation is linked to early‐onset epileptic encephalopathy and proteasome dysfunction. Gene lies in the chromosome 15q13.3 region. Heterozygous microdeletions of chromosome 15q13.3 show incomplete penetrance and are associated with a highly variable phenotype that may include intellectual disability, epilepsy, facial dysmorphism and digit anomalies. \nSources: Literature","entity_name":"OTUD7A","entity_type":"gene"},{"created":"2020-06-04T10:03:18.590911+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2663","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: GATAD2B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31949314; Phenotypes: Mental retardation, autosomal dominant 18, OMIM # 615074; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GATAD2B","entity_type":"gene"},{"created":"2020-06-04T09:59:06.234879+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.33","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: GATAD2B as Green List (high evidence)","entity_name":"GATAD2B","entity_type":"gene"},{"created":"2020-06-04T09:59:06.222297+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.33","user_name":"Chirag Patel","item_type":"entity","text":"Gene: gatad2b has been classified as Green List (High Evidence).","entity_name":"GATAD2B","entity_type":"gene"},{"created":"2020-06-04T09:58:27.068086+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.32","user_name":"Chirag Patel","item_type":"entity","text":"gene: GATAD2B was added\ngene: GATAD2B was added to Macrocephaly_Megalencephaly. Sources: Literature\nMode of inheritance for gene: GATAD2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GATAD2B were set to PMID: 31949314\nPhenotypes for gene: GATAD2B were set to Mental retardation, autosomal dominant 18, OMIM # 615074\nReview for gene: GATAD2B was set to GREEN\nAdded comment: 50 patients reported in series in 2020:\r\n- loss-of-function and missense variants\r\n- clinical features of hypotonia, intellectual disability, strabismus, cardiac defects, characteristic facies, childhood apraxia of speech, and macrocephaly. \nSources: Literature","entity_name":"GATAD2B","entity_type":"gene"},{"created":"2020-06-04T09:54:34.367102+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.37","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SLC25A24 as ready","entity_name":"SLC25A24","entity_type":"gene"},{"created":"2020-06-04T09:54:34.354130+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.37","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: slc25a24 has been classified as Green List (High Evidence).","entity_name":"SLC25A24","entity_type":"gene"},{"created":"2020-06-04T09:54:08.604540+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.37","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: SLC25A24 were changed from  to Fontaine progeroid syndrome MIM#612289","entity_name":"SLC25A24","entity_type":"gene"},{"created":"2020-06-04T09:53:40.603865+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.36","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: SLC25A24 were set to ","entity_name":"SLC25A24","entity_type":"gene"},{"created":"2020-06-04T09:53:01.855672+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.35","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: SLC25A24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SLC25A24","entity_type":"gene"},{"created":"2020-06-04T09:52:27.330974+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.34","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: SLC25A24: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100093; Phenotypes: Fontaine progeroid syndrome MIM#612289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SLC25A24","entity_type":"gene"},{"created":"2020-06-04T09:41:37.574755+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2663","user_name":"Chirag Patel","item_type":"entity","text":"changed review comment from: KMT2D missense variants located in a specific region spanning exons 38 and 39 and affecting highly conserved residues cause a novel multiple malformations syndrome distinct from Kabuki syndrome, through a dominant negative mechanism.; to: KMT2D missense variants located in a specific region spanning exons 38 and 39 and affecting highly conserved residues cause a novel multiple malformations syndrome distinct from Kabuki syndrome, through a dominant negative mechanism.\r\n- 7 unrelated families with choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. None of the individuals had intellectual disability. ","entity_name":"KMT2D","entity_type":"gene"},{"created":"2020-06-04T09:40:41.060029+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2663","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31949313; Phenotypes: ; Mode of inheritance: None","entity_name":"KMT2D","entity_type":"gene"},{"created":"2020-06-04T09:34:23.158677+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.30","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: COG4 as Green List (high evidence)","entity_name":"COG4","entity_type":"gene"},{"created":"2020-06-04T09:34:23.149839+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.30","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cog4 has been classified as Green List (High Evidence).","entity_name":"COG4","entity_type":"gene"},{"created":"2020-06-04T09:34:00.706299+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.29","user_name":"Chirag Patel","item_type":"entity","text":"changed review comment from: Saul-Wilson syndrome (AD)\r\n14 patients reported with DD, skeletal changes, cataracts, and growth retardation (progeriod like)\r\nAll have a recurrent de novo heterozygous missense variant (p.Gly516Arg) \r\n\r\nCongenital disorder of glycosylation, type IIj (AR) \nSources: Literature; to: Saul-Wilson syndrome (AD)\r\n14 patients reported with DD, skeletal dysplasia changes, cataracts, and growth retardation (progeriod like)\r\nAll have a recurrent de novo heterozygous missense variant (p.Gly516Arg) \r\n\r\nCongenital disorder of glycosylation, type IIj (AR) \r\nSources: Literature","entity_name":"COG4","entity_type":"gene"},{"created":"2020-06-04T09:32:24.914978+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.29","user_name":"Chirag Patel","item_type":"entity","text":"gene: COG4 was added\ngene: COG4 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: COG4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: COG4 were set to PMID: 31949312; 30290151\nPhenotypes for gene: COG4 were set to Saul-Wilson syndrome, OMIM #618150; Congenital disorder of glycosylation, type IIj, OMIM #613489\nReview for gene: COG4 was set to GREEN\nAdded comment: Saul-Wilson syndrome (AD)\r\n14 patients reported with DD, skeletal changes, cataracts, and growth retardation (progeriod like)\r\nAll have a recurrent de novo heterozygous missense variant (p.Gly516Arg) \r\n\r\nCongenital disorder of glycosylation, type IIj (AR) \nSources: Literature","entity_name":"COG4","entity_type":"gene"},{"created":"2020-06-04T09:32:06.223247+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2663","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: COG4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31949312, 30290151; Phenotypes: Saul-Wilson syndrome, OMIM #618150, Congenital disorder of glycosylation, type IIj, OMIM #613489; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"COG4","entity_type":"gene"},{"created":"2020-06-04T09:31:59.524897+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.141","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: COG4 as Green List (high evidence)","entity_name":"COG4","entity_type":"gene"},{"created":"2020-06-04T09:31:59.511834+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.141","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cog4 has been classified as Green List (High Evidence).","entity_name":"COG4","entity_type":"gene"},{"created":"2020-06-04T09:31:37.206152+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.140","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: COG4 as Green List (high evidence)","entity_name":"COG4","entity_type":"gene"},{"created":"2020-06-04T09:31:37.156547+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.140","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cog4 has been classified as Green List (High Evidence).","entity_name":"COG4","entity_type":"gene"},{"created":"2020-06-04T09:31:16.208026+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.140","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: COG4 as Green List (high evidence)","entity_name":"COG4","entity_type":"gene"},{"created":"2020-06-04T09:31:16.155643+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.140","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cog4 has been classified as Green List (High Evidence).","entity_name":"COG4","entity_type":"gene"},{"created":"2020-06-04T09:30:55.405516+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.140","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: COG4 as Green List (high evidence)","entity_name":"COG4","entity_type":"gene"},{"created":"2020-06-04T09:30:55.367166+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.140","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cog4 has been classified as Green List (High Evidence).","entity_name":"COG4","entity_type":"gene"},{"created":"2020-06-04T09:30:30.776282+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.140","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: COG4 as Green List (high evidence)","entity_name":"COG4","entity_type":"gene"},{"created":"2020-06-04T09:30:30.767318+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.140","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cog4 has been classified as Green List (High Evidence).","entity_name":"COG4","entity_type":"gene"},{"created":"2020-06-04T09:29:28.809045+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.139","user_name":"Chirag Patel","item_type":"entity","text":"gene: COG4 was added\ngene: COG4 was added to Cataract. Sources: Literature\nMode of inheritance for gene: COG4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: COG4 were set to Saul-Wilson syndrome, OMIM #618150; Congenital disorder of glycosylation, type IIj, OMIM #613489\nPhenotypes for gene: COG4 were set to PMID: 31949312; 30290151\nReview for gene: COG4 was set to GREEN\nAdded comment: Saul-Wilson syndrome (AD)\r\n14 patients reported with DD, skeletal changes, cataracts, and growth retardation (progeriod like)\r\nAll have a recurrent de novo heterozygous missense variant (p.Gly516Arg) \r\n\r\nCongenital disorder of glycosylation, type IIj (AR) \nSources: Literature","entity_name":"COG4","entity_type":"gene"},{"created":"2020-06-04T07:09:36.184776+10:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TECRL as ready","entity_name":"TECRL","entity_type":"gene"},{"created":"2020-06-04T07:09:36.175666+10:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tecrl has been classified as Green List (High Evidence).","entity_name":"TECRL","entity_type":"gene"},{"created":"2020-06-04T07:09:32.870833+10:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TECRL were changed from CPVT to Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM#\t614021","entity_name":"TECRL","entity_type":"gene"},{"created":"2020-06-04T07:09:08.563658+10:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TECRL as Green List (high evidence)","entity_name":"TECRL","entity_type":"gene"},{"created":"2020-06-04T07:09:08.554852+10:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tecrl has been classified as Green List (High Evidence).","entity_name":"TECRL","entity_type":"gene"},{"created":"2020-06-04T07:07:31.107453+10:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CALM1 as ready","entity_name":"CALM1","entity_type":"gene"},{"created":"2020-06-04T07:07:31.093811+10:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: calm1 has been classified as Green List (High Evidence).","entity_name":"CALM1","entity_type":"gene"},{"created":"2020-06-04T07:07:28.912788+10:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CALM1 were changed from  to Long QT syndrome 14\t616247; Ventricular tachycardia, catecholaminergic polymorphic, 4\t614916","entity_name":"CALM1","entity_type":"gene"},{"created":"2020-06-04T07:06:26.691052+10:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CALM1 were set to ","entity_name":"CALM1","entity_type":"gene"},{"created":"2020-06-04T07:05:22.424439+10:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CALM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CALM1","entity_type":"gene"},{"created":"2020-06-04T07:04:34.905580+10:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CALM2 as ready","entity_name":"CALM2","entity_type":"gene"},{"created":"2020-06-04T07:04:34.891606+10:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: calm2 has been classified as Green List (High Evidence).","entity_name":"CALM2","entity_type":"gene"},{"created":"2020-06-04T07:04:31.375489+10:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CALM2 were changed from  to Long QT syndrome 15\t616249; sudden unexplained death; idopathic VF","entity_name":"CALM2","entity_type":"gene"},{"created":"2020-06-04T07:03:32.862709+10:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CALM2 were set to ","entity_name":"CALM2","entity_type":"gene"},{"created":"2020-06-04T07:02:27.277831+10:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CALM3 were set to 27516456","entity_name":"CALM3","entity_type":"gene"},{"created":"2020-06-04T07:01:44.903529+10:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CALM3 as Amber List (moderate evidence)","entity_name":"CALM3","entity_type":"gene"},{"created":"2020-06-04T07:01:44.890265+10:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: calm3 has been classified as Amber List (Moderate Evidence).","entity_name":"CALM3","entity_type":"gene"},{"created":"2020-06-04T06:57:24.571045+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2663","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARL13B as ready","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-06-04T06:57:24.561784+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2663","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arl13b has been classified as Green List (High Evidence).","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-06-04T06:57:17.269019+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2663","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARL13B were changed from  to Joubert syndrome 8, MIM# 612291","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-06-04T06:56:43.287471+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2662","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARL13B were set to ","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-06-04T06:56:11.277697+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2661","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ARL13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-06-04T06:55:34.628201+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2660","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 18674751, 25138100, 26092869, 27894351, 29255182, 17488627; Phenotypes: Joubert syndrome 8, MIM# 612291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-06-04T06:54:44.681863+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARL13B as ready","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-06-04T06:54:44.668350+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arl13b has been classified as Red List (Low Evidence).","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-06-04T06:54:41.738032+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARL13B were changed from  to Joubert syndrome 8, MIM# 612291","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-06-04T06:54:10.723356+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ARL13B as Red List (low evidence)","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-06-04T06:54:10.709880+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arl13b has been classified as Red List (Low Evidence).","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-06-04T06:53:40.127187+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARL13B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 8, MIM# 612291; Mode of inheritance: None","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-06-04T06:52:36.102384+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARL13B as ready","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-06-04T06:52:36.091661+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arl13b has been classified as Green List (High Evidence).","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-06-04T06:52:33.225168+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARL13B were changed from  to Joubert syndrome 8, MIM# 612291","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-06-04T06:52:03.085629+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARL13B were set to ","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-06-04T06:51:39.479744+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ARL13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-06-04T06:50:48.382197+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 18674751, 25138100, 26092869, 27894351, 29255182, 17488627; Phenotypes: Joubert syndrome 8, MIM# 612291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-06-04T06:47:47.138853+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2999","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARL13B as ready","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-06-04T06:47:47.130036+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2999","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arl13b has been classified as Green List (High Evidence).","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-06-04T06:47:39.176609+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2999","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARL13B were changed from  to Joubert syndrome 8, MIM# 612291","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-06-04T06:47:17.928307+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2998","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARL13B were set to ","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-06-04T06:46:56.534147+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2997","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ARL13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-06-04T06:46:31.895596+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2996","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-06-04T06:46:24.290459+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2996","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ARL13B: Added comment: Eight families reported in the literature. Many are homozygous missense variants in consanguineous families with no further supporting evidence, but sufficient number have functional evidence at protein level. Gene has appropriate tissue expression. Zebrafish model: curved tails and cystic kidneys. Hennin mouse model discovered in ENU mutagenesis screen: has polydactyly, ciliary defect, and much more severe neurological phenotype (neural tube defect).; Changed publications: 18674751, 25138100, 26092869, 27894351, 29255182, 17488627","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-06-04T06:45:23.470009+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARL13B as ready","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-06-04T06:45:23.460668+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arl13b has been classified as Green List (High Evidence).","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-06-04T06:45:20.836115+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARL13B were changed from  to Joubert syndrome 8, MIM# 612291","entity_name":"ARL13B","entity_type":"gene"}]}