{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1891","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1889","results":[{"created":"2020-03-31T16:34:17.495361+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TTN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TTN","entity_type":"gene"},{"created":"2020-03-31T16:30:12.531090+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYH7 as ready","entity_name":"MYH7","entity_type":"gene"},{"created":"2020-03-31T16:30:12.517829+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh7 has been classified as Red List (Low Evidence).","entity_name":"MYH7","entity_type":"gene"},{"created":"2020-03-31T16:30:08.926263+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYH7 were changed from  to Laing distal myopathy 160500; Myopathy, myosin storage, autosomal dominant 608358; Myopathy, myosin storage, autosomal recessive 255160; Scapuloperoneal syndrome, myopathic type 181430","entity_name":"MYH7","entity_type":"gene"},{"created":"2020-03-31T16:29:24.794687+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYH7 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MYH7","entity_type":"gene"},{"created":"2020-03-31T16:28:21.418065+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYH7 were set to ","entity_name":"MYH7","entity_type":"gene"},{"created":"2020-03-31T16:27:16.806052+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYH7 as Red List (low evidence)","entity_name":"MYH7","entity_type":"gene"},{"created":"2020-03-31T16:27:16.797118+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh7 has been classified as Red List (Low Evidence).","entity_name":"MYH7","entity_type":"gene"},{"created":"2020-03-31T16:26:38.247872+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MYH7: Rating: RED; Mode of pathogenicity: None; Publications: 27519903; Phenotypes: Laing distal myopathy, MIM# 160500; Mode of inheritance: None","entity_name":"MYH7","entity_type":"gene"},{"created":"2020-03-31T14:59:13.648143+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2495","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DLG3 as ready","entity_name":"DLG3","entity_type":"gene"},{"created":"2020-03-31T14:59:13.634999+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2495","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlg3 has been classified as Green List (High Evidence).","entity_name":"DLG3","entity_type":"gene"},{"created":"2020-03-31T14:59:06.701405+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2495","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DLG3 were changed from  to Mental retardation, X-linked 90, MIM#300850","entity_name":"DLG3","entity_type":"gene"},{"created":"2020-03-31T14:58:40.624375+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2494","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DLG3 were set to ","entity_name":"DLG3","entity_type":"gene"},{"created":"2020-03-31T14:58:10.018151+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2493","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DLG3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"DLG3","entity_type":"gene"},{"created":"2020-03-31T14:57:35.639243+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2492","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DLG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28777483, 24721225; Phenotypes: Mental retardation, X-linked 90, MIM#300850; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"DLG3","entity_type":"gene"},{"created":"2020-03-31T14:56:21.986063+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1853","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DLG3 as ready","entity_name":"DLG3","entity_type":"gene"},{"created":"2020-03-31T14:56:21.968721+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1853","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlg3 has been classified as Green List (High Evidence).","entity_name":"DLG3","entity_type":"gene"},{"created":"2020-03-31T14:56:14.418592+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1853","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DLG3 were changed from  to Mental retardation, X-linked 90, MIM#300850","entity_name":"DLG3","entity_type":"gene"},{"created":"2020-03-31T14:55:53.754595+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1852","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DLG3 were set to ","entity_name":"DLG3","entity_type":"gene"},{"created":"2020-03-31T14:55:36.327227+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1851","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DLG3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"DLG3","entity_type":"gene"},{"created":"2020-03-31T12:35:39.094859+11:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.18","user_name":"Kristin Rigbye","item_type":"entity","text":"reviewed gene: CALR3: Rating: RED; Mode of pathogenicity: Other; Publications: 29988065; Phenotypes: Hypertrophic cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"CALR3","entity_type":"gene"},{"created":"2020-03-31T12:24:04.156660+11:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBN2 as ready","entity_name":"FBN2","entity_type":"gene"},{"created":"2020-03-31T12:24:04.143259+11:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbn2 has been classified as Red List (Low Evidence).","entity_name":"FBN2","entity_type":"gene"},{"created":"2020-03-31T12:01:25.594415+11:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FBN2 were changed from  to Contractural arachnodactyly, congenital 121050; Macular degeneration, early-onset 616118","entity_name":"FBN2","entity_type":"gene"},{"created":"2020-03-31T12:01:03.287023+11:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FBN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FBN2","entity_type":"gene"},{"created":"2020-03-31T11:59:54.665961+11:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FBN2 as Red List (low evidence)","entity_name":"FBN2","entity_type":"gene"},{"created":"2020-03-31T11:59:54.657140+11:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbn2 has been classified as Red List (Low Evidence).","entity_name":"FBN2","entity_type":"gene"},{"created":"2020-03-31T11:59:26.836322+11:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FBN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Contractural arachnodactyly, congenital 121050, Macular degeneration, early-onset 616118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FBN2","entity_type":"gene"},{"created":"2020-03-31T11:51:52.833230+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBN2 as ready","entity_name":"FBN2","entity_type":"gene"},{"created":"2020-03-31T11:51:52.819924+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbn2 has been classified as Green List (High Evidence).","entity_name":"FBN2","entity_type":"gene"},{"created":"2020-03-31T11:51:50.155958+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FBN2 were changed from  to Contractural arachnodactyly, congenital, MIM# 121050","entity_name":"FBN2","entity_type":"gene"},{"created":"2020-03-31T11:51:25.163642+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FBN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FBN2","entity_type":"gene"},{"created":"2020-03-31T11:50:57.370688+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Contractural arachnodactyly, congenital, MIM# 121050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FBN2","entity_type":"gene"},{"created":"2020-03-31T11:50:22.941072+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBN2 as ready","entity_name":"FBN2","entity_type":"gene"},{"created":"2020-03-31T11:50:22.927853+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbn2 has been classified as Green List (High Evidence).","entity_name":"FBN2","entity_type":"gene"},{"created":"2020-03-31T11:50:11.925926+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FBN2 were changed from  to Contractural arachnodactyly, congenital, MIM# 121050","entity_name":"FBN2","entity_type":"gene"},{"created":"2020-03-31T11:49:48.446593+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FBN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FBN2","entity_type":"gene"},{"created":"2020-03-31T11:49:18.014917+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FBN2: Changed phenotypes: Contractural arachnodactyly, congenital, MIM# 121050","entity_name":"FBN2","entity_type":"gene"},{"created":"2020-03-31T11:48:52.629116+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Macular degeneration, early-onset, MIM# 616118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FBN2","entity_type":"gene"},{"created":"2020-03-31T11:47:44.319745+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1850","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBN2 as ready","entity_name":"FBN2","entity_type":"gene"},{"created":"2020-03-31T11:47:44.315572+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1850","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: The gene-disease association with Contractual arachnodactyly is extremely well established. The gene-disease association with macular degeneration much less so. There are ~4 families reported in the literature, and some discussion about whether the contribution of rare FBN2 variants in this context are under a 'monogenic' or 'polygenic' model.","entity_name":"FBN2","entity_type":"gene"},{"created":"2020-03-31T11:47:44.285868+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1850","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbn2 has been classified as Green List (High Evidence).","entity_name":"FBN2","entity_type":"gene"},{"created":"2020-03-31T11:46:01.747365+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1850","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FBN2 were set to 19473076; 11068201","entity_name":"FBN2","entity_type":"gene"},{"created":"2020-03-31T11:43:20.316429+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1849","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FBN2 were changed from  to Contractural arachnodactyly, congenital 121050; Macular degeneration, early-onset 616118","entity_name":"FBN2","entity_type":"gene"},{"created":"2020-03-31T11:43:04.441242+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1848","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FBN2 were set to ","entity_name":"FBN2","entity_type":"gene"},{"created":"2020-03-31T11:42:49.323035+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1847","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FBN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FBN2","entity_type":"gene"},{"created":"2020-03-31T07:51:47.994037+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1846","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: BTBD7: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: Unknown","entity_name":"BTBD7","entity_type":"gene"},{"created":"2020-03-30T20:28:58.788780+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AIFM1 as ready","entity_name":"AIFM1","entity_type":"gene"},{"created":"2020-03-30T20:28:58.780400+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aifm1 has been classified as Green List (High Evidence).","entity_name":"AIFM1","entity_type":"gene"},{"created":"2020-03-30T20:28:53.185877+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AIFM1 were set to ","entity_name":"AIFM1","entity_type":"gene"},{"created":"2020-03-30T20:28:39.618905+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 3856385, 22019070, 26173962, 25583628; Phenotypes: Combined oxidative phosphorylation deficiency 6, Cowchock syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"AIFM1","entity_type":"gene"},{"created":"2020-03-30T20:21:57.511233+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AGXT as ready","entity_name":"AGXT","entity_type":"gene"},{"created":"2020-03-30T20:21:57.497389+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: agxt has been classified as Green List (High Evidence).","entity_name":"AGXT","entity_type":"gene"},{"created":"2020-03-30T20:21:49.418188+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AGXT as Green List (high evidence)","entity_name":"AGXT","entity_type":"gene"},{"created":"2020-03-30T20:21:49.404456+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: agxt has been classified as Green List (High Evidence).","entity_name":"AGXT","entity_type":"gene"},{"created":"2020-03-30T20:21:39.896627+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AGXT was added\ngene: AGXT was added to Hereditary Neuropathy - complex. Sources: NHS GMS\nMode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1, MIM#259900\nReview for gene: AGXT was set to GREEN\nAdded comment: Multi-system oxalate deposition including leading to neuropathy. \nSources: NHS GMS","entity_name":"AGXT","entity_type":"gene"},{"created":"2020-03-30T18:44:24.155397+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1846","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AGTPBP1 as ready","entity_name":"AGTPBP1","entity_type":"gene"},{"created":"2020-03-30T18:44:24.146748+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1846","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: agtpbp1 has been classified as Green List (High Evidence).","entity_name":"AGTPBP1","entity_type":"gene"},{"created":"2020-03-30T18:44:13.798120+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1846","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AGTPBP1 as Green List (high evidence)","entity_name":"AGTPBP1","entity_type":"gene"},{"created":"2020-03-30T18:44:13.785009+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1846","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: agtpbp1 has been classified as Green List (High Evidence).","entity_name":"AGTPBP1","entity_type":"gene"},{"created":"2020-03-30T18:43:54.884952+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1845","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AGTPBP1 was added\ngene: AGTPBP1 was added to Mendeliome. Sources: NHS GMS\nMode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGTPBP1 were set to 30420557\nPhenotypes for gene: AGTPBP1 were set to Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276\nReview for gene: AGTPBP1 was set to GREEN\nAdded comment: Thirteen individuals with bi-allelic variants in this gene, complex neurological phenotype of dev delay/ID, cerebellar atrophy and neuropathy, severe progressive course in six. \nSources: NHS GMS","entity_name":"AGTPBP1","entity_type":"gene"},{"created":"2020-03-30T18:38:25.212535+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2492","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AGTPBP1 as ready","entity_name":"AGTPBP1","entity_type":"gene"},{"created":"2020-03-30T18:38:25.199213+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2492","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: agtpbp1 has been classified as Green List (High Evidence).","entity_name":"AGTPBP1","entity_type":"gene"},{"created":"2020-03-30T18:37:31.297023+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2492","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AGTPBP1 as Green List (high evidence)","entity_name":"AGTPBP1","entity_type":"gene"},{"created":"2020-03-30T18:37:31.288491+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2492","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: agtpbp1 has been classified as Green List (High Evidence).","entity_name":"AGTPBP1","entity_type":"gene"},{"created":"2020-03-30T18:36:58.249050+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2491","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AGTPBP1 was added\ngene: AGTPBP1 was added to Intellectual disability syndromic and non-syndromic. Sources: NHS GMS\nMode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGTPBP1 were set to 30420557\nPhenotypes for gene: AGTPBP1 were set to Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276\nReview for gene: AGTPBP1 was set to GREEN\nAdded comment: Thirteen individuals reported, clinical presentation was with developmental delay, though six went on to have a progressive neurological course. Other features include cerebellar atrophy and neuropathy. \nSources: NHS GMS","entity_name":"AGTPBP1","entity_type":"gene"},{"created":"2020-03-30T18:34:40.486516+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AGTPBP1 as ready","entity_name":"AGTPBP1","entity_type":"gene"},{"created":"2020-03-30T18:34:40.473249+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: agtpbp1 has been classified as Green List (High Evidence).","entity_name":"AGTPBP1","entity_type":"gene"},{"created":"2020-03-30T18:34:15.389156+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AGTPBP1 as Green List (high evidence)","entity_name":"AGTPBP1","entity_type":"gene"},{"created":"2020-03-30T18:34:15.380200+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: agtpbp1 has been classified as Green List (High Evidence).","entity_name":"AGTPBP1","entity_type":"gene"},{"created":"2020-03-30T18:33:39.979589+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AGTPBP1 was added\ngene: AGTPBP1 was added to Regression. Sources: NHS GMS\nMode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGTPBP1 were set to 30420557\nPhenotypes for gene: AGTPBP1 were set to Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276\nReview for gene: AGTPBP1 was set to GREEN\nAdded comment: Thirteen individuals with bi-allelic variants in this gene, six of those had a progressive course. \nSources: NHS GMS","entity_name":"AGTPBP1","entity_type":"gene"},{"created":"2020-03-30T18:30:10.032804+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AGTPBP1 as ready","entity_name":"AGTPBP1","entity_type":"gene"},{"created":"2020-03-30T18:30:10.019097+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: agtpbp1 has been classified as Green List (High Evidence).","entity_name":"AGTPBP1","entity_type":"gene"},{"created":"2020-03-30T18:30:04.904782+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AGTPBP1 as Green List (high evidence)","entity_name":"AGTPBP1","entity_type":"gene"},{"created":"2020-03-30T18:30:04.895931+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: agtpbp1 has been classified as Green List (High Evidence).","entity_name":"AGTPBP1","entity_type":"gene"},{"created":"2020-03-30T18:29:55.634654+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AGTPBP1 was added\ngene: AGTPBP1 was added to Hereditary Neuropathy - complex. Sources: NHS GMS\nMode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGTPBP1 were set to 30420557\nPhenotypes for gene: AGTPBP1 were set to Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276\nReview for gene: AGTPBP1 was set to GREEN\nAdded comment: Thirteen individuals with bi-allelic variants in this gene, neuropathy is a major feature. \nSources: NHS GMS","entity_name":"AGTPBP1","entity_type":"gene"},{"created":"2020-03-30T17:37:54.353376+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AAAS as ready","entity_name":"AAAS","entity_type":"gene"},{"created":"2020-03-30T17:37:54.344222+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aaas has been classified as Green List (High Evidence).","entity_name":"AAAS","entity_type":"gene"},{"created":"2020-03-30T17:37:51.830304+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AAAS were changed from HMSN; Glucocorticoid deficiency with achalasia to HMSN; Glucocorticoid deficiency with achalasia; Achalasia-addisonianism-alacrimia syndrome, MIM# 231550","entity_name":"AAAS","entity_type":"gene"},{"created":"2020-03-30T17:37:29.990017+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, MIM# 231550; Mode of inheritance: None","entity_name":"AAAS","entity_type":"gene"},{"created":"2020-03-30T17:17:55.866260+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2490","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ADGRG6: Rating: RED; Mode of pathogenicity: None; Publications: 30549416, 26004201; Phenotypes: Lethal congenital contracture syndrome 9, OMIM #616503; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADGRG6","entity_type":"gene"},{"created":"2020-03-30T17:15:47.856753+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1844","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADGRG6 were set to 30549416","entity_name":"ADGRG6","entity_type":"gene"},{"created":"2020-03-30T17:15:28.559914+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1843","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADGRG6 as Green List (high evidence)","entity_name":"ADGRG6","entity_type":"gene"},{"created":"2020-03-30T17:15:28.546671+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1843","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adgrg6 has been classified as Green List (High Evidence).","entity_name":"ADGRG6","entity_type":"gene"},{"created":"2020-03-30T17:15:07.017718+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1842","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ADGRG6: Added comment: Three families reported originally with severe prenatal-onset arthrogryposis (PMID: 26004201), one family with more complex neurological phenotype (PMID:30549416).; Changed rating: GREEN; Changed publications: 30549416, 26004201; Changed phenotypes: Lethal congenital contracture syndrome 9, OMIM #616503; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADGRG6","entity_type":"gene"},{"created":"2020-03-30T17:12:18.877774+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADGRG6 as ready","entity_name":"ADGRG6","entity_type":"gene"},{"created":"2020-03-30T17:12:18.873909+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Gene previously known as GPR126.","entity_name":"ADGRG6","entity_type":"gene"},{"created":"2020-03-30T17:12:18.853328+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adgrg6 has been classified as Green List (High Evidence).","entity_name":"ADGRG6","entity_type":"gene"},{"created":"2020-03-30T17:11:34.512782+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADGRG6 as Green List (high evidence)","entity_name":"ADGRG6","entity_type":"gene"},{"created":"2020-03-30T17:11:34.504930+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adgrg6 has been classified as Green List (High Evidence).","entity_name":"ADGRG6","entity_type":"gene"},{"created":"2020-03-30T17:10:45.503590+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADGRG6 were set to 30549416; 26004201","entity_name":"ADGRG6","entity_type":"gene"},{"created":"2020-03-30T17:09:11.042555+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADGRG6 were set to 30549416","entity_name":"ADGRG6","entity_type":"gene"},{"created":"2020-03-30T17:08:27.353231+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADGRG6 as Green List (high evidence)","entity_name":"ADGRG6","entity_type":"gene"},{"created":"2020-03-30T17:08:27.339748+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adgrg6 has been classified as Green List (High Evidence).","entity_name":"ADGRG6","entity_type":"gene"},{"created":"2020-03-30T11:14:59.492898+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1842","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: NOS1AP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"NOS1AP","entity_type":"gene"},{"created":"2020-03-30T09:38:44.809293+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1842","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: ARID2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:30838730; Phenotypes: Coffin-Siris syndrome 6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes","entity_name":"ARID2","entity_type":"gene"},{"created":"2020-03-30T09:36:20.978194+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1842","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: DYNC1H1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25512093, 28196890; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 20, Mental retardation, autosomal dominant 13, Spinal muscular atrophy, lower extremity-predominant 1; Mode of inheritance: None","entity_name":"DYNC1H1","entity_type":"gene"},{"created":"2020-03-30T09:21:26.991803+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1842","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: PQBP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:31840929, 14634649, 20410308; Phenotypes: Renpenning syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes","entity_name":"PQBP1","entity_type":"gene"},{"created":"2020-03-30T08:28:48.738474+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1842","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: CHD3: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:30397230; Phenotypes: Snijders Blok-Campeau syndrome (618205); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"CHD3","entity_type":"gene"},{"created":"2020-03-30T07:46:22.894868+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.22","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25589632, 28045975; Phenotypes: Cardiomyopathy, dilated, 1G, 604145, Cardiomyopathy, familial hypertrophic, 9, 613765, Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807, (LGMDR10), Myopathy, myofibrillar, 9, with early respiratory failure, 603689, Salih myopathy, 611705, Tibial muscular dystrophy, tardive, 600334; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TTN","entity_type":"gene"}]}