{"count":220403,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1496","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1494","results":[{"created":"2020-11-26T13:38:06.187691+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3221","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OGT as ready","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:38:06.177957+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3221","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ogt has been classified as Green List (High Evidence).","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:36:26.879693+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3221","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OGT were changed from  to Mental retardation, X-linked 106, MIM# 300997","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:35:43.074671+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3220","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OGT were set to ","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:34:42.699877+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3219","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: OGT was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:34:10.536838+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3218","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: OGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 28302723, 28584052, 31296563, 31627256, 29769320, 29606577; Phenotypes: Mental retardation, X-linked 106, MIM# 300997; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:33:00.953126+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5469","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OGT as ready","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:33:00.942700+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5469","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ogt has been classified as Green List (High Evidence).","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:32:54.402064+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5469","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OGT were changed from  to Mental retardation, X-linked 106, MIM# 300997","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:32:32.362932+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5468","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OGT were set to ","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:32:12.193148+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5467","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: OGT was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:31:52.861425+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5466","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: OGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 28302723, 28584052, 31296563, 31627256, 29769320, 29606577; Phenotypes: Mental retardation, X-linked 106, MIM# 300997; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:31:09.680880+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OGT as ready","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:31:09.664771+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ogt has been classified as Green List (High Evidence).","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:31:05.691039+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: OGT as Green List (high evidence)","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:31:05.681678+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ogt has been classified as Green List (High Evidence).","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:30:30.594889+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OGT was added\ngene: OGT was added to Congenital Disorders of Glycosylation. Sources: Expert Review\nMode of inheritance for gene: OGT was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: OGT were set to 28302723; 28584052; 31296563; 31627256; 29769320; 29606577\nPhenotypes for gene: OGT were set to Mental retardation, X-linked 106, MIM#\t300997\nReview for gene: OGT was set to GREEN\nAdded comment: OGT encodes O-GlcNAc transferase subunit p110. More than 5 unrelated families reported, presenting with ID, hypotonia, eye abnormalities, hearing impairment, behavioural problems, short stature, dysmorphism. Functional data supports gene-disease association. \nSources: Expert Review","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:21:48.453126+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EXTL3 as ready","entity_name":"EXTL3","entity_type":"gene"},{"created":"2020-11-26T13:21:48.442702+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: extl3 has been classified as Green List (High Evidence).","entity_name":"EXTL3","entity_type":"gene"},{"created":"2020-11-26T13:21:44.327880+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EXTL3 as Green List (high evidence)","entity_name":"EXTL3","entity_type":"gene"},{"created":"2020-11-26T13:21:44.314079+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: extl3 has been classified as Green List (High Evidence).","entity_name":"EXTL3","entity_type":"gene"},{"created":"2020-11-26T13:21:15.558173+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EXTL3 was added\ngene: EXTL3 was added to Congenital Disorders of Glycosylation. Sources: Expert Review\nMode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXTL3 were set to 28132690; 28148688; 28331220\nPhenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425\nReview for gene: EXTL3 was set to GREEN\nAdded comment: EXTL3 is a glycosyltransferase involved in the synthesis of heparin and heparan sulfate. 8 unrelated families reported with skeletal dysplasia +/- immune deficiency and neurodevelopmental abnormalities. \nSources: Expert Review","entity_name":"EXTL3","entity_type":"gene"},{"created":"2020-11-26T13:19:47.282589+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5466","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EXTL3 as ready","entity_name":"EXTL3","entity_type":"gene"},{"created":"2020-11-26T13:19:47.273661+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5466","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: extl3 has been classified as Green List (High Evidence).","entity_name":"EXTL3","entity_type":"gene"},{"created":"2020-11-26T13:19:39.987254+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5466","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EXTL3 were changed from  to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425","entity_name":"EXTL3","entity_type":"gene"},{"created":"2020-11-26T13:19:16.611191+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5465","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EXTL3 were set to ","entity_name":"EXTL3","entity_type":"gene"},{"created":"2020-11-26T13:18:57.589290+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5464","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EXTL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXTL3","entity_type":"gene"},{"created":"2020-11-26T13:18:38.933245+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5463","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EXTL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132690, 28148688, 28331220; Phenotypes: Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXTL3","entity_type":"gene"},{"created":"2020-11-26T11:54:49.201044+11:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"0.2","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NPPA: Rating: AMBER; Mode of pathogenicity: None; Publications: 18614783, 20064500, 31034774, 31077706; Phenotypes: Atrial fibrillation, familial, 6, (MIM#612201); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NPPA","entity_type":"gene"},{"created":"2020-11-25T22:02:26.826886+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5463","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SSR3 as ready","entity_name":"SSR3","entity_type":"gene"},{"created":"2020-11-25T22:02:26.815976+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5463","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ssr3 has been classified as Amber List (Moderate Evidence).","entity_name":"SSR3","entity_type":"gene"},{"created":"2020-11-25T22:02:00.817028+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5463","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SSR3 as Amber List (moderate evidence)","entity_name":"SSR3","entity_type":"gene"},{"created":"2020-11-25T22:02:00.808528+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5463","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ssr3 has been classified as Amber List (Moderate Evidence).","entity_name":"SSR3","entity_type":"gene"},{"created":"2020-11-25T22:01:42.172670+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5462","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SSR3 was added\ngene: SSR3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SSR3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SSR3 were set to 30945312\nPhenotypes for gene: SSR3 were set to Congenital disorder of glycosylation\nReview for gene: SSR3 was set to AMBER\nAdded comment: Single individual reported with an unsolved type I CDG, intellectual disability, homozygous LOF variant in SSR3, supportive functional evidence. \nSources: Literature","entity_name":"SSR3","entity_type":"gene"},{"created":"2020-11-25T22:00:18.044734+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SSR3 as ready","entity_name":"SSR3","entity_type":"gene"},{"created":"2020-11-25T22:00:18.033058+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ssr3 has been classified as Amber List (Moderate Evidence).","entity_name":"SSR3","entity_type":"gene"},{"created":"2020-11-25T22:00:12.481047+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SSR3 as Amber List (moderate evidence)","entity_name":"SSR3","entity_type":"gene"},{"created":"2020-11-25T22:00:12.463991+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ssr3 has been classified as Amber List (Moderate Evidence).","entity_name":"SSR3","entity_type":"gene"},{"created":"2020-11-25T21:59:41.693593+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SSR3 was added\ngene: SSR3 was added to Congenital Disorders of Glycosylation. Sources: Literature\nMode of inheritance for gene: SSR3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SSR3 were set to 30945312\nPhenotypes for gene: SSR3 were set to Congenital disorder of glycosylation\nReview for gene: SSR3 was set to AMBER\nAdded comment: Single individual reported with an unsolved type I CDG, intellectual disability, homozygous LOF variant in SSR3, supportive functional evidence. \nSources: Literature","entity_name":"SSR3","entity_type":"gene"},{"created":"2020-11-25T21:48:35.020402+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5461","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LCP2 as ready","entity_name":"LCP2","entity_type":"gene"},{"created":"2020-11-25T21:48:34.992927+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5461","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lcp2 has been classified as Red List (Low Evidence).","entity_name":"LCP2","entity_type":"gene"},{"created":"2020-11-25T21:48:24.335423+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5461","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LCP2 was added\ngene: LCP2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LCP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LCP2 were set to 33231617\nPhenotypes for gene: LCP2 were set to Severe combined immunodeficiency\nReview for gene: LCP2 was set to RED\nAdded comment: Infant with bi-allelic variants in this gene and early-onset life-threatening infections, combined T and B cell immunodeficiency, severe neutrophil defects, and impaired platelet aggregation. \nSources: Literature","entity_name":"LCP2","entity_type":"gene"},{"created":"2020-11-25T21:32:05.566710+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3218","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DPM2 as Green List (high evidence)","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-11-25T21:32:05.558661+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3218","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpm2 has been classified as Green List (High Evidence).","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-11-25T21:31:34.539201+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3217","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DPM2: Added comment: Further unrelated individual reported, main clinical features were truncal hypotonia, hypertonicity, congenital heart defects, intellectual disability, and generalized muscle wasting.; Changed rating: GREEN; Changed publications: 23109149, 33129689","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-11-25T21:30:51.461960+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5460","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DPM2 were set to 23109149","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-11-25T21:30:32.152388+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5459","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DPM2 as Green List (high evidence)","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-11-25T21:30:32.144955+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5459","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpm2 has been classified as Green List (High Evidence).","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-11-25T21:30:13.338874+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5458","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DPM2: Added comment: Further unrelated individual reported, main clinical features were truncal hypotonia, hypertonicity, congenital heart defects, intellectual disability, and generalized muscle wasting.; Changed rating: GREEN; Changed publications: 23109149, 33129689","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-11-25T21:29:29.636964+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DPM2 were set to 23109149","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-11-25T21:28:41.161408+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DPM2 as Green List (high evidence)","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-11-25T21:28:41.152676+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpm2 has been classified as Green List (High Evidence).","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-11-25T21:28:11.837585+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Further family reported.; to: Further unrelated individual reported, main clinical features were truncal hypotonia, hypertonicity, congenital heart defects, intellectual disability, and generalized muscle wasting.","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-11-25T21:27:37.748170+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DPM2: Added comment: Further family reported.; Changed rating: GREEN; Changed publications: 23109149, 33129689","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-11-25T21:23:52.231506+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5458","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP6V0A2 as ready","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2020-11-25T21:23:52.223423+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5458","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp6v0a2 has been classified as Green List (High Evidence).","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2020-11-25T21:23:44.921186+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5458","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP6V0A2 were changed from  to Cutis laxa, autosomal recessive, type IIA, MIM# 219200; Wrinkly skin syndrome, MIM#278250","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2020-11-25T21:23:23.000333+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5457","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP6V0A2 were set to ","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2020-11-25T21:23:06.267348+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5456","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATP6V0A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2020-11-25T21:23:04.339829+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP6V0A2 as ready","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2020-11-25T21:23:04.330730+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp6v0a2 has been classified as Green List (High Evidence).","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2020-11-25T21:22:50.890215+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP6V0A2 were changed from  to Cutis laxa, autosomal recessive, type IIA, MIM# 219200; Wrinkly skin syndrome, MIM#278250","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2020-11-25T21:22:45.996849+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5455","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP6V0A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29952037, 22773132; Phenotypes: Cutis laxa, autosomal recessive, type IIA, MIM# 219200, Wrinkly skin syndrome, MIM#278250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2020-11-25T21:22:24.030647+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP6V0A2 were set to ","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2020-11-25T21:21:51.547075+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATP6V0A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2020-11-25T21:21:16.980847+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP6V0A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29952037, 22773132; Phenotypes: Cutis laxa, autosomal recessive, type IIA, MIM# 219200, Wrinkly skin syndrome, MIM#278250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2020-11-25T21:16:29.634224+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG9 as ready","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:16:29.625657+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg9 has been classified as Green List (High Evidence).","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:16:25.725742+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG9 were changed from Congenital disorder of glycosylation, type Il to Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:16:04.362716+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.162","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALG9 were set to ","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:15:51.670015+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALG9 as Green List (high evidence)","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:15:51.659434+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg9 has been classified as Green List (High Evidence).","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:15:38.160245+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28932688, 25966638, 26453364; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776, Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:14:13.451636+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3217","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG9 as ready","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:14:13.439150+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3217","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg9 has been classified as Green List (High Evidence).","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:14:08.523808+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3217","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG9 were changed from  to Congenital disorder of glycosylation, type Il, MIM#608776","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:13:36.656021+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3216","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALG9 were set to ","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:13:03.592302+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3215","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALG9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:12:24.997357+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.925","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG9 as ready","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:12:24.987320+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.925","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg9 has been classified as Green List (High Evidence).","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:12:17.086668+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.925","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG9 were changed from  to Congenital disorder of glycosylation, type Il, MIM#608776","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:11:48.908951+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.924","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALG9 were set to ","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:11:20.500042+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.923","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALG9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:10:47.940844+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.922","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28932688; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T20:36:04.989988+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5455","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG9 as ready","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T20:36:04.981736+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5455","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg9 has been classified as Green List (High Evidence).","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T20:35:48.040927+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5455","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG9 were changed from  to Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Polycystic kidney disease","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T20:35:28.331471+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5454","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALG9 were set to ","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T20:35:09.492719+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5453","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALG9 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T20:34:39.332801+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5452","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28932688, 25966638, 26453364, 30676690; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776, Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210, Polycystic kidney disease; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T20:27:53.381839+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG9 as ready","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T20:27:53.373517+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg9 has been classified as Green List (High Evidence).","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T20:27:50.399257+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG9 were changed from  to Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T20:27:21.906866+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALG9 were set to ","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T20:26:52.363021+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.199","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALG9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T20:26:18.632790+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.198","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28932688, 25966638, 26453364; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776, Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T18:26:24.668047+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3214","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG8 as ready","entity_name":"ALG8","entity_type":"gene"},{"created":"2020-11-25T18:26:24.657123+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3214","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg8 has been classified as Green List (High Evidence).","entity_name":"ALG8","entity_type":"gene"},{"created":"2020-11-25T18:26:18.147020+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3214","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG8 were changed from  to Congenital disorder of glycosylation, type Ih, MIM# 608104","entity_name":"ALG8","entity_type":"gene"},{"created":"2020-11-25T18:25:43.700744+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3213","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALG8 were set to ","entity_name":"ALG8","entity_type":"gene"}]}