{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1913","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1911","results":[{"created":"2020-03-03T11:53:57.800662+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1590","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: SMC1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273969, 22106055, 19701948, 26752331, 28166369; Phenotypes: Cornelia de Lange syndrome 2 300590; 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":"SMC1A","entity_type":"gene"},{"created":"2020-03-03T11:40:18.074047+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.325","user_name":"Melanie Marty","item_type":"entity","text":"edited their review of gene: LOXHD1: Changed publications: 19732867, 25792669","entity_name":"LOXHD1","entity_type":"gene"},{"created":"2020-03-03T11:34:33.602120+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1590","user_name":"Teresa Zhao","item_type":"entity","text":"reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AIRE","entity_type":"gene"},{"created":"2020-03-03T11:31:41.474079+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.325","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: LOXHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732867; Phenotypes: Deafness, autosomal recessive 77 613079; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LOXHD1","entity_type":"gene"},{"created":"2020-03-03T11:31:02.566372+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1590","user_name":"Teresa Zhao","item_type":"entity","text":"reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25211237; Phenotypes: ?Cataract 41, Deafness, autosomal dominant 6/14/38, Wolfram syndrome 1, Wolfram-like syndrome, autosomal dominant, {Diabetes mellitus, noninsulin-dependent, association with}; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"WFS1","entity_type":"gene"},{"created":"2020-03-03T11:04:56.016420+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.22","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: PIEZO2: Rating: ; Mode of pathogenicity: None; Publications: PMID: 30941898; Phenotypes: Arthrogryposis, distal, with impaired proprioception and touch (MIM # 617146); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIEZO2","entity_type":"gene"},{"created":"2020-03-03T09:35:02.634100+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:TCIRG1 from the panel","entity_name":null,"entity_type":null},{"created":"2020-03-02T18:32:22.134728+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.624","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VARS as ready","entity_name":"VARS","entity_type":"gene"},{"created":"2020-03-02T18:32:22.121410+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.624","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vars has been classified as Green List (High Evidence).","entity_name":"VARS","entity_type":"gene"},{"created":"2020-03-02T18:32:13.686529+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1590","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VARS were set to ","entity_name":"VARS","entity_type":"gene"},{"created":"2020-03-02T18:31:55.501300+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1589","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: VARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"VARS","entity_type":"gene"},{"created":"2020-03-02T18:31:26.447196+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.624","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VARS were changed from  to Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy; OMIM #617802","entity_name":"VARS","entity_type":"gene"},{"created":"2020-03-02T18:31:13.654748+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2354","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VARS as ready","entity_name":"VARS","entity_type":"gene"},{"created":"2020-03-02T18:31:13.643508+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2354","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vars has been classified as Green List (High Evidence).","entity_name":"VARS","entity_type":"gene"},{"created":"2020-03-02T18:30:49.714034+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.623","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VARS were set to ","entity_name":"VARS","entity_type":"gene"},{"created":"2020-03-02T18:30:47.469265+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1588","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: VARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30755616, 30755602, 26539891, 29691655, 30275004; Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, OMIM #617802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VARS","entity_type":"gene"},{"created":"2020-03-02T18:29:54.239400+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.622","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: VARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"VARS","entity_type":"gene"},{"created":"2020-03-02T18:29:40.868473+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2354","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VARS were set to PubMed: 30755616, 30755602, 26539891, 29691655, 30275004","entity_name":"VARS","entity_type":"gene"},{"created":"2020-03-02T18:28:51.016886+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.621","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: VARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30755616, 30755602, 26539891, 29691655, 30275004; Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, OMIM #617802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"VARS","entity_type":"gene"},{"created":"2020-03-02T16:34:44.725926+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KRT6A as ready","entity_name":"KRT6A","entity_type":"gene"},{"created":"2020-03-02T16:34:44.712649+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: krt6a has been classified as Green List (High Evidence).","entity_name":"KRT6A","entity_type":"gene"},{"created":"2020-03-02T16:34:15.749528+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KRT6A were changed from  to Pachyonychia congenita 3 (MIM#615726)","entity_name":"KRT6A","entity_type":"gene"},{"created":"2020-03-02T16:33:51.220328+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KRT6A were set to ","entity_name":"KRT6A","entity_type":"gene"},{"created":"2020-03-02T16:33:28.621524+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: KRT6A was changed from  to Other","entity_name":"KRT6A","entity_type":"gene"},{"created":"2020-03-02T16:33:06.333217+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KRT6A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KRT6A","entity_type":"gene"},{"created":"2020-03-02T16:32:24.253990+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1588","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KRT6A as ready","entity_name":"KRT6A","entity_type":"gene"},{"created":"2020-03-02T16:32:24.241086+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1588","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: krt6a has been classified as Green List (High Evidence).","entity_name":"KRT6A","entity_type":"gene"},{"created":"2020-03-02T16:32:06.136748+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KRT6A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21326300; Phenotypes: Pachyonychia congenita 3 (MIM#615726); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KRT6A","entity_type":"gene"},{"created":"2020-03-02T16:31:12.039360+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1588","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: KRT6A was changed from Other to Other","entity_name":"KRT6A","entity_type":"gene"},{"created":"2020-03-02T16:30:36.063281+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1587","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KRT6A were changed from  to Pachyonychia congenita 3 (MIM#615726)","entity_name":"KRT6A","entity_type":"gene"},{"created":"2020-03-02T16:30:16.426525+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1586","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KRT6A were set to ","entity_name":"KRT6A","entity_type":"gene"},{"created":"2020-03-02T16:29:59.732376+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1585","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: KRT6A was changed from  to Other","entity_name":"KRT6A","entity_type":"gene"},{"created":"2020-03-02T16:29:02.596690+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1584","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KRT6A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KRT6A","entity_type":"gene"},{"created":"2020-03-02T16:28:04.820829+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BICD2 as ready","entity_name":"BICD2","entity_type":"gene"},{"created":"2020-03-02T16:28:04.814773+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Arthrogryposis is a feature in some affected individuals.","entity_name":"BICD2","entity_type":"gene"},{"created":"2020-03-02T16:28:04.767818+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bicd2 has been classified as Green List (High Evidence).","entity_name":"BICD2","entity_type":"gene"},{"created":"2020-03-02T16:27:48.184790+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BICD2 as Green List (high evidence)","entity_name":"BICD2","entity_type":"gene"},{"created":"2020-03-02T16:27:48.176242+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bicd2 has been classified as Green List (High Evidence).","entity_name":"BICD2","entity_type":"gene"},{"created":"2020-03-02T15:49:45.837803+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.21","user_name":"Elena Savva","item_type":"entity","text":"gene: BICD2 was added\ngene: BICD2 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: BICD2 were set to PMID: 28635954; 27751653\nPhenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant\t615290; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant 618291\nPenetrance for gene: BICD2 were set to Incomplete\nReview for gene: BICD2 was set to GREEN\nAdded comment: OMIM describes an established pathogenic variant (p.T703M) as inherited from an unaffected parent - has 2 hets in gnomAD\r\n\r\nRequested for entry to this gene list following VPC - found several papers noting patient w/ Arthrogryposis \nSources: Literature","entity_name":"BICD2","entity_type":"gene"},{"created":"2020-03-02T15:42:09.078789+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2353","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TXNL4A as ready","entity_name":"TXNL4A","entity_type":"gene"},{"created":"2020-03-02T15:42:09.065812+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2353","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: txnl4a has been classified as Red List (Low Evidence).","entity_name":"TXNL4A","entity_type":"gene"},{"created":"2020-03-02T15:42:00.889452+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2353","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TXNL4A were changed from  to Burn-McKeown syndrome, MIM# 608572","entity_name":"TXNL4A","entity_type":"gene"},{"created":"2020-03-02T15:40:43.856440+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2352","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TXNL4A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TXNL4A","entity_type":"gene"},{"created":"2020-03-02T15:40:13.190859+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2351","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TXNL4A as Red List (low evidence)","entity_name":"TXNL4A","entity_type":"gene"},{"created":"2020-03-02T15:40:13.181990+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2351","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: txnl4a has been classified as Red List (Low Evidence).","entity_name":"TXNL4A","entity_type":"gene"},{"created":"2020-03-02T15:39:39.756120+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2350","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TXNL4A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Burn-McKeown syndrome, MIM# 608572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TXNL4A","entity_type":"gene"},{"created":"2020-03-02T15:33:59.137042+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2350","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUBGCP4 as ready","entity_name":"TUBGCP4","entity_type":"gene"},{"created":"2020-03-02T15:33:59.127766+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2350","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubgcp4 has been classified as Amber List (Moderate Evidence).","entity_name":"TUBGCP4","entity_type":"gene"},{"created":"2020-03-02T15:33:53.206761+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2350","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TUBGCP4 as Amber List (moderate evidence)","entity_name":"TUBGCP4","entity_type":"gene"},{"created":"2020-03-02T15:33:53.193774+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2350","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubgcp4 has been classified as Amber List (Moderate Evidence).","entity_name":"TUBGCP4","entity_type":"gene"},{"created":"2020-03-02T15:33:09.891414+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2349","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TUBGCP4 was added\ngene: TUBGCP4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: TUBGCP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TUBGCP4 were set to 25817018\nPhenotypes for gene: TUBGCP4 were set to Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335\nReview for gene: TUBGCP4 was set to AMBER\nAdded comment: Three unrelated families reported; ID described as mild. \nSources: Expert list","entity_name":"TUBGCP4","entity_type":"gene"},{"created":"2020-03-02T15:22:09.916273+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUBA8 as ready","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:22:09.900114+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tuba8 has been classified as Red List (Low Evidence).","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:22:03.145417+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TUBA8 were changed from  to Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:21:20.186160+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUBA8 were set to ","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:20:41.351036+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TUBA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:20:12.557031+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TUBA8 as Red List (low evidence)","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:20:12.543511+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tuba8 has been classified as Red List (Low Evidence).","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:19:38.016931+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:18:32.901833+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.621","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUBA8 were set to 31481326; 19896110","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:18:08.254127+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.620","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TUBA8 as Red List (low evidence)","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:18:08.241343+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.620","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tuba8 has been classified as Red List (Low Evidence).","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:17:37.324323+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.619","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TUBA8: Added comment: However, note that mouse model does not have a brain phenotype and WES in the original families identified homozygous, previously reported as pathogenic, LoF variant in SNAP29, which is much more likely to be causative (28388629).; Changed rating: RED; Changed publications: 31481326, 19896110, 28388629","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:11:26.196196+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUBA8 as ready","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:11:26.186481+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tuba8 has been classified as Red List (Low Evidence).","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:11:15.007338+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TUBA8 were changed from  to Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:09:55.255156+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1583","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUBA8 as ready","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:09:55.242131+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1583","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tuba8 has been classified as Red List (Low Evidence).","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:04:52.831877+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1583","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TUBA8 were changed from  to Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:04:38.138181+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1582","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUBA8 were set to ","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:04:23.126861+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1581","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TUBA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:04:12.777846+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUBA8 were set to ","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:04:08.168538+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1580","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TUBA8 as Red List (low evidence)","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:04:08.159931+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1580","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tuba8 has been classified as Red List (Low Evidence).","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:03:46.999746+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TUBA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:03:24.079335+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TUBA8 as Red List (low evidence)","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:03:24.065642+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tuba8 has been classified as Red List (Low Evidence).","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:02:55.479168+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1579","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:02:06.054254+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:01:17.769836+11:00","panel_name":"Tubulinopathies","panel_id":21,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUBA8 as ready","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:01:17.760818+11:00","panel_name":"Tubulinopathies","panel_id":21,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tuba8 has been classified as Red List (Low Evidence).","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:01:12.421930+11:00","panel_name":"Tubulinopathies","panel_id":21,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TUBA8 were changed from  to Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:01:04.539275+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TUBA8 were changed from  to Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:00:36.477754+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUBA8 were set to ","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T15:00:09.129160+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TUBA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T14:59:45.026918+11:00","panel_name":"Tubulinopathies","panel_id":21,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUBA8 were set to ","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T14:59:17.058208+11:00","panel_name":"Tubulinopathies","panel_id":21,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TUBA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T14:58:50.563026+11:00","panel_name":"Tubulinopathies","panel_id":21,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TUBA8 as Red List (low evidence)","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T14:58:50.549975+11:00","panel_name":"Tubulinopathies","panel_id":21,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tuba8 has been classified as Red List (Low Evidence).","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T14:57:59.624612+11:00","panel_name":"Tubulinopathies","panel_id":21,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T14:54:56.421387+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TUBA8 as Red List (low evidence)","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T14:54:56.412394+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tuba8 has been classified as Red List (Low Evidence).","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T14:54:25.137106+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T14:54:18.610654+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2348","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TUBA8 were changed from  to Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T14:52:48.509205+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2347","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUBA8 were set to ","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T14:52:16.848238+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2346","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TUBA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T14:50:43.458807+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2345","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TUBA8 as Red List (low evidence)","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T14:50:43.449731+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2345","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tuba8 has been classified as Red List (Low Evidence).","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T14:50:10.097346+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2344","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-03-02T14:07:24.326867+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2344","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TSHR as ready","entity_name":"TSHR","entity_type":"gene"}]}