{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1954","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1952","results":[{"created":"2020-01-31T12:52:42.319317+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LONP1 were changed from  to CODAS syndrome, MIM#600373; Mitochondrial cytopathy","entity_name":"LONP1","entity_type":"gene"},{"created":"2020-01-31T12:52:41.934435+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1804","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PHF8 as ready","entity_name":"PHF8","entity_type":"gene"},{"created":"2020-01-31T12:52:41.926641+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1804","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phf8 has been classified as Green List (High Evidence).","entity_name":"PHF8","entity_type":"gene"},{"created":"2020-01-31T12:52:38.468790+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1063","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PHF8 were set to ","entity_name":"PHF8","entity_type":"gene"},{"created":"2020-01-31T12:52:25.006826+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1804","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PHF8 were set to ","entity_name":"PHF8","entity_type":"gene"},{"created":"2020-01-31T12:51:39.862363+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LONP1 were set to ","entity_name":"LONP1","entity_type":"gene"},{"created":"2020-01-31T12:51:36.096122+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1062","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PHF8 were changed from  to Mental retardation syndrome, X-linked, Siderius type, MIM#300263","entity_name":"PHF8","entity_type":"gene"},{"created":"2020-01-31T12:51:09.479842+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1061","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IARS as ready","entity_name":"IARS","entity_type":"gene"},{"created":"2020-01-31T12:51:09.393250+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1061","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: iars has been classified as Green List (High Evidence).","entity_name":"IARS","entity_type":"gene"},{"created":"2020-01-31T12:51:06.789095+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LONP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LONP1","entity_type":"gene"},{"created":"2020-01-31T12:50:31.984237+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31636596; Phenotypes: CODAS syndrome, MIM#600373, Mitochondrial cytopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LONP1","entity_type":"gene"},{"created":"2020-01-31T12:49:38.644200+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1803","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PHF8 were changed from  to Mental retardation syndrome, X-linked, Siderius type, MIM#300263","entity_name":"PHF8","entity_type":"gene"},{"created":"2020-01-31T12:49:22.462601+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1061","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IARS were changed from  to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093","entity_name":"IARS","entity_type":"gene"},{"created":"2020-01-31T12:48:41.441368+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1060","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PHF8 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PHF8","entity_type":"gene"},{"created":"2020-01-31T12:48:28.512688+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"gene: EBP was added\ngene: EBP was added to Ichthyosis. Sources: Expert list\nMode of inheritance for gene: EBP 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: EBP were set to 10391218; 30135486; 25846959\nPhenotypes for gene: EBP were set to Chondrodysplasia punctata, X-linked dominant MIM#302960\nReview for gene: EBP was set to GREEN\nAdded comment: Ichthyosis is a prominent feature of the condition. Mouse model recapitulates phenotype of condition. >3 unrelated cases/families with condition \nSources: Expert list","entity_name":"EBP","entity_type":"gene"},{"created":"2020-01-31T12:48:20.332628+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1059","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PHF8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17661819, 17594395, 16199551; Phenotypes: Mental retardation syndrome, X-linked, Siderius type, MIM#300263; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PHF8","entity_type":"gene"},{"created":"2020-01-31T12:47:58.588776+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1802","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PHF8 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PHF8","entity_type":"gene"},{"created":"2020-01-31T12:47:20.264786+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1801","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PHF8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17661819, 17594395, 16199551; Phenotypes: Mental retardation syndrome, X-linked, Siderius type, MIM#300263; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PHF8","entity_type":"gene"},{"created":"2020-01-31T12:42:14.330275+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAMTS10 as ready","entity_name":"ADAMTS10","entity_type":"gene"},{"created":"2020-01-31T12:42:14.317810+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Joint stiffness and limitations described as part of the phenotype.","entity_name":"ADAMTS10","entity_type":"gene"},{"created":"2020-01-31T12:42:14.290410+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adamts10 has been classified as Green List (High Evidence).","entity_name":"ADAMTS10","entity_type":"gene"},{"created":"2020-01-31T12:42:12.862034+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1059","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IARS were set to ","entity_name":"IARS","entity_type":"gene"},{"created":"2020-01-31T12:41:58.577186+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1058","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LONP1 as ready","entity_name":"LONP1","entity_type":"gene"},{"created":"2020-01-31T12:41:58.571444+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1058","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lonp1 has been classified as Green List (High Evidence).","entity_name":"LONP1","entity_type":"gene"},{"created":"2020-01-31T12:41:46.578703+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1058","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LONP1 were changed from  to CODAS syndrome, MIM#600373; Mitochondrial cytopathy","entity_name":"LONP1","entity_type":"gene"},{"created":"2020-01-31T12:41:08.275999+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1057","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LONP1 were set to ","entity_name":"LONP1","entity_type":"gene"},{"created":"2020-01-31T12:40:49.536712+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1056","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LONP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LONP1","entity_type":"gene"},{"created":"2020-01-31T12:38:50.294769+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1801","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IARS as ready","entity_name":"IARS","entity_type":"gene"},{"created":"2020-01-31T12:38:50.288769+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1801","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: iars has been classified as Green List (High Evidence).","entity_name":"IARS","entity_type":"gene"},{"created":"2020-01-31T12:38:38.198394+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1801","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IARS were changed from  to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093","entity_name":"IARS","entity_type":"gene"},{"created":"2020-01-31T12:38:38.097542+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1055","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IARS","entity_type":"gene"},{"created":"2020-01-31T12:38:12.808710+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1054","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27426735; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IARS","entity_type":"gene"},{"created":"2020-01-31T12:37:33.257745+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IARS as ready","entity_name":"IARS","entity_type":"gene"},{"created":"2020-01-31T12:37:33.251587+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: iars has been classified as Green List (High Evidence).","entity_name":"IARS","entity_type":"gene"},{"created":"2020-01-31T12:37:28.682127+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1800","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IARS were set to ","entity_name":"IARS","entity_type":"gene"},{"created":"2020-01-31T12:36:50.351707+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1799","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IARS","entity_type":"gene"},{"created":"2020-01-31T12:36:13.793253+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1798","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27426735; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IARS","entity_type":"gene"},{"created":"2020-01-31T12:35:18.852064+11:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUBA1A as ready","entity_name":"TUBA1A","entity_type":"gene"},{"created":"2020-01-31T12:35:18.845932+11:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tuba1a has been classified as Green List (High Evidence).","entity_name":"TUBA1A","entity_type":"gene"},{"created":"2020-01-31T12:35:14.968453+11:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUBA1A were set to ","entity_name":"TUBA1A","entity_type":"gene"},{"created":"2020-01-31T12:34:49.067297+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IARS were changed from  to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093","entity_name":"IARS","entity_type":"gene"},{"created":"2020-01-31T12:34:25.748601+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADAMTS10 were changed from  to Weill-Marchesani syndrome 1, recessive, MIM#277600","entity_name":"ADAMTS10","entity_type":"gene"},{"created":"2020-01-31T12:33:43.729578+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADAMTS10 were set to ","entity_name":"ADAMTS10","entity_type":"gene"},{"created":"2020-01-31T12:32:38.490165+11:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TUBA1A were changed from  to Lissencephaly 3, MIM#611603","entity_name":"TUBA1A","entity_type":"gene"},{"created":"2020-01-31T12:32:29.977273+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IARS were set to ","entity_name":"IARS","entity_type":"gene"},{"created":"2020-01-31T12:31:35.774974+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IARS","entity_type":"gene"},{"created":"2020-01-31T12:30:54.469552+11:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: TUBA1A was changed from  to Other","entity_name":"TUBA1A","entity_type":"gene"},{"created":"2020-01-31T12:29:49.594138+11:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TUBA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TUBA1A","entity_type":"gene"},{"created":"2020-01-31T11:52:14.608668+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1054","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: CACNA2D3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31275518, PMID: 22542183, PMID: 23375656; Phenotypes: NA; Mode of inheritance: Unknown","entity_name":"CACNA2D3","entity_type":"gene"},{"created":"2020-01-31T11:47:56.542632+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CSTA was added\ngene: CSTA was added to Ichthyosis. Sources: Expert list\nMode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSTA were set to 21944047; 23534700; 25400170\nPhenotypes for gene: CSTA were set to Peeling skin syndrome 4 MIM#607936; exfoliative ichthyosis\nReview for gene: CSTA was set to GREEN\nAdded comment: Exfoliative ichthyosis is a prominent feature of the condition. >3 unrelated families reported. \nSources: Expert list","entity_name":"CSTA","entity_type":"gene"},{"created":"2020-01-31T11:41:00.280370+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CDSN was added\ngene: CDSN was added to Ichthyosis. Sources: Expert list\nMode of inheritance for gene: CDSN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDSN were set to 24794518; 18436651; 20691404; 21191406\nPhenotypes for gene: CDSN were set to Peeling skin syndrome 1\tMIM#270300; ichthyosiform erythroderma\nReview for gene: CDSN was set to GREEN\nAdded comment: At least 3 unrelated families reported with biallelic/homozygous variants. Cdsn -/- mice died within several hours after birth with skin defects consistent with dehydration caused by defective skin barrier function. \nSources: Expert list","entity_name":"CDSN","entity_type":"gene"},{"created":"2020-01-31T11:23:28.735926+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.9","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CASP14 was added\ngene: CASP14 was added to Ichthyosis. Sources: Expert list\nMode of inheritance for gene: CASP14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CASP14 were set to 27494380; 23014340; 17515931\nPhenotypes for gene: CASP14 were set to Ichthyosis, congenital, autosomal recessive 12 MIM#617320\nReview for gene: CASP14 was set to AMBER\nAdded comment: The same 2bp deletion was identified in 3 patients with a mild form of generalised ichthyosis from 2 Algerian families. Casp14-/- mouse models had prominent dermatological features. \nSources: Expert list","entity_name":"CASP14","entity_type":"gene"},{"created":"2020-01-31T11:15:21.747016+11:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"0.1","user_name":"Kristin Rigbye","item_type":"entity","text":"changed review comment from: LIPE is confirmed to be associated to partial familial lipodystrophy in OMIM.\r\nThere are 3 unrelated cases of patients with partial lipodystrophy with different loss of function variants in the LIPE gene.; to: LIPE is confirmed to be associated to partial familial lipodystrophy in OMIM.\r\nThere are 3 unrelated cases of patients with partial lipodystrophy with different loss of function variants in the LIPE gene.","entity_name":"LIPE","entity_type":"gene"},{"created":"2020-01-31T11:15:05.259041+11:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"0.1","user_name":"Kristin Rigbye","item_type":"entity","text":"reviewed gene: LIPE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27862896, 25475467, 24848981; Phenotypes: Lipodystrophy, familial partial, type 6, 615980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LIPE","entity_type":"gene"},{"created":"2020-01-31T11:13:54.943263+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ALDH3A2 was added\ngene: ALDH3A2 was added to Ichthyosis. Sources: Expert list\nMode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDH3A2 were set to 31273323\nPhenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome MIM#270200; spasticity; ichthyosis; intellectual disability\nReview for gene: ALDH3A2 was set to GREEN\nAdded comment: Ichthyosis is a prominent feature of the condition, and >30 biallelic variant carriers have been reported \nSources: Expert list","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2020-01-31T11:07:20.509784+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ABHD5 was added\ngene: ABHD5 was added to Ichthyosis. Sources: Expert list\nMode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABHD5 were set to 30795549\nPhenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome\tMIM#275630; neutral lipid storage disease with ichthyosis; non-bullous congenital ichthyosiform erithroderma\nReview for gene: ABHD5 was set to GREEN\nAdded comment: Ichthyosis is a prominent feature of the condition, and >80 cases have been reported with biallelic ABHD5 variants. \nSources: Expert list","entity_name":"ABHD5","entity_type":"gene"},{"created":"2020-01-31T10:58:11.457438+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1798","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SOX5 as ready","entity_name":"SOX5","entity_type":"gene"},{"created":"2020-01-31T10:58:11.454312+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1798","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Note many cases reported of intragenic deletion.","entity_name":"SOX5","entity_type":"gene"},{"created":"2020-01-31T10:58:11.434651+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1798","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sox5 has been classified as Green List (High Evidence).","entity_name":"SOX5","entity_type":"gene"},{"created":"2020-01-31T10:57:32.359217+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1798","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SOX5 were changed from Lamb-Shaffer syndrome, MIM#616803 to Lamb-Shaffer syndrome, MIM#616803","entity_name":"SOX5","entity_type":"gene"},{"created":"2020-01-31T10:57:28.987623+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SOX5 as ready","entity_name":"SOX5","entity_type":"gene"},{"created":"2020-01-31T10:57:28.984291+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Note many cases reported of intragenic deletion.","entity_name":"SOX5","entity_type":"gene"},{"created":"2020-01-31T10:57:28.934705+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sox5 has been classified as Green List (High Evidence).","entity_name":"SOX5","entity_type":"gene"},{"created":"2020-01-31T10:57:18.034542+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SOX5 were changed from Lamb-Shaffer syndrome, MIM#616803 to Lamb-Shaffer syndrome, MIM#616803","entity_name":"SOX5","entity_type":"gene"},{"created":"2020-01-31T10:57:06.120663+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1797","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SOX5 were changed from  to Lamb-Shaffer syndrome, MIM#616803","entity_name":"SOX5","entity_type":"gene"},{"created":"2020-01-31T10:56:35.039518+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SOX5 were changed from  to Lamb-Shaffer syndrome, MIM#616803","entity_name":"SOX5","entity_type":"gene"},{"created":"2020-01-31T10:56:26.306073+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1797","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SOX5 were set to ","entity_name":"SOX5","entity_type":"gene"},{"created":"2020-01-31T10:55:45.949954+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1796","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SOX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SOX5","entity_type":"gene"},{"created":"2020-01-31T10:54:50.949528+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SOX5 were set to 31578471","entity_name":"SOX5","entity_type":"gene"},{"created":"2020-01-31T10:54:45.468873+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1795","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SOX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31578471; Phenotypes: Lamb-Shaffer syndrome, MIM#616803; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SOX5","entity_type":"gene"},{"created":"2020-01-31T10:53:22.742972+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SOX5 were set to ","entity_name":"SOX5","entity_type":"gene"},{"created":"2020-01-31T10:52:49.331330+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SOX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SOX5","entity_type":"gene"},{"created":"2020-01-31T10:51:15.954597+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LZTR1 as ready","entity_name":"LZTR1","entity_type":"gene"},{"created":"2020-01-31T10:51:15.948738+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lztr1 has been classified as Green List (High Evidence).","entity_name":"LZTR1","entity_type":"gene"},{"created":"2020-01-31T10:51:11.780450+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LZTR1 were changed from  to Noonan syndrome 10; Noonan syndrome 2","entity_name":"LZTR1","entity_type":"gene"},{"created":"2020-01-31T10:50:43.195183+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LZTR1 were set to ","entity_name":"LZTR1","entity_type":"gene"},{"created":"2020-01-31T10:50:16.979617+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LZTR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LZTR1","entity_type":"gene"},{"created":"2020-01-31T10:49:51.450521+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1795","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29072892; Phenotypes: 1. ACTH-independent macronodular adrenal hyperplasia (219080) Somatic Mutations, 2. McCune-Albright syndrome, somatic, mosaic (174800), 3. Osseous heteroplasia, progressive (166350) AD, 4. Pituitary adenoma 3, multiple types, somatic (617686), 5. Pseudohypoparathyroidism Ia (103580) AD, 6. Pseudohypoparathyroidism Ib (603233) AD, 7. Pseudohypoparathyroidism Ic (612462) AD, 8. Pseudopseudohypoparathyroidism (612463) AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"GNAS","entity_type":"gene"},{"created":"2020-01-31T10:49:46.422500+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LZTR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25795793, 29469822, 30368668, 30481304, 24362817; Phenotypes: Noonan syndrome 10, Noonan syndrome 2; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LZTR1","entity_type":"gene"},{"created":"2020-01-31T10:48:45.498483+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1795","user_name":"Michelle Torres","item_type":"entity","text":"Deleted their review","entity_name":"GNAS","entity_type":"gene"},{"created":"2020-01-31T10:47:25.960459+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.75","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: TUBGCP6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25344692; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUBGCP6","entity_type":"gene"},{"created":"2020-01-31T10:45:32.647181+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LZTR1 as ready","entity_name":"LZTR1","entity_type":"gene"},{"created":"2020-01-31T10:45:32.640420+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lztr1 has been classified as Green List (High Evidence).","entity_name":"LZTR1","entity_type":"gene"},{"created":"2020-01-31T10:45:29.690591+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LZTR1 were changed from  to Noonan syndrome 10; Noonan syndrome 2; {Schwannomatosis-2, susceptibility to}","entity_name":"LZTR1","entity_type":"gene"},{"created":"2020-01-31T10:44:59.202986+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LZTR1 were set to ","entity_name":"LZTR1","entity_type":"gene"},{"created":"2020-01-31T10:40:16.472548+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: LZTR1 was changed from  to Other","entity_name":"LZTR1","entity_type":"gene"},{"created":"2020-01-31T10:39:48.358455+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LZTR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LZTR1","entity_type":"gene"},{"created":"2020-01-31T10:39:01.922991+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1795","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29072892; Phenotypes: 1. ACTH-independent macronodular adrenal hyperplasia (219080) Somatic Mutations, 2. McCune-Albright syndrome, somatic, mosaic (174800), 3. Osseous heteroplasia, progressive (166350) AD, 4. Pituitary adenoma 3, multiple types, somatic (617686), 5. Pseudohypoparathyroidism Ia (103580) AD, 6. Pseudohypoparathyroidism Ib (603233) AD, 7. Pseudohypoparathyroidism Ic (612462) AD, 8. Pseudopseudohypoparathyroidism (612463) AD; Mode of inheritance: None","entity_name":"GNAS","entity_type":"gene"},{"created":"2020-01-31T10:26:04.680742+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1795","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: MYT1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 39 616521 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MYT1L","entity_type":"gene"},{"created":"2020-01-31T09:48:57.412473+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1054","user_name":"Kristin Rigbye","item_type":"entity","text":"Deleted their comment","entity_name":"SLC52A1","entity_type":"gene"},{"created":"2020-01-31T09:48:53.714745+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.2","user_name":"Kristin Rigbye","item_type":"entity","text":"Deleted their comment","entity_name":"SLC52A1","entity_type":"gene"},{"created":"2020-01-31T09:48:46.184522+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1054","user_name":"Kristin Rigbye","item_type":"entity","text":"Deleted their comment","entity_name":"PTCH2","entity_type":"gene"},{"created":"2020-01-31T09:48:40.595133+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.12","user_name":"Kristin Rigbye","item_type":"entity","text":"Deleted their comment","entity_name":"PTCH2","entity_type":"gene"},{"created":"2020-01-31T09:45:48.170776+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1054","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipoyltransferase 1 deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LIPT1","entity_type":"gene"},{"created":"2020-01-31T09:44:49.402209+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1054","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARSA","entity_type":"gene"},{"created":"2020-01-31T09:43:22.783068+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1054","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19562689, 15236405; Phenotypes: Myopathy, actin, congenital, with cores, Myopathy, actin, congenital, with excess of thin myofilaments, Myopathy, congenital, with fiber-type disproportion 1, Nemaline myopathy 3, ?Myopathy, scapulohumeroperoneal; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ACTA1","entity_type":"gene"},{"created":"2020-01-31T09:40:23.599286+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1054","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: FGF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, congenital with inner ear agenesis, microtia, and microdontia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FGF3","entity_type":"gene"},{"created":"2020-01-31T09:40:07.077930+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1054","user_name":"Elena Savva","item_type":"entity","text":"Deleted their review","entity_name":"FGF3","entity_type":"gene"},{"created":"2020-01-31T09:39:56.356402+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1054","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: FGF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, congenital with inner ear agenesis, microtia, and microdontia; Mode of inheritance: None","entity_name":"FGF3","entity_type":"gene"},{"created":"2020-01-31T09:38:28.198700+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KMT5B as ready","entity_name":"KMT5B","entity_type":"gene"}]}