{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=549","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=547","results":[{"created":"2023-09-15T10:47:14.370632+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1169","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLK11 as ready","entity_name":"KLK11","entity_type":"gene"},{"created":"2023-09-15T10:47:14.359210+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1169","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klk11 has been classified as Green List (High Evidence).","entity_name":"KLK11","entity_type":"gene"},{"created":"2023-09-15T10:47:03.433235+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1169","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KLK11 as Green List (high evidence)","entity_name":"KLK11","entity_type":"gene"},{"created":"2023-09-15T10:47:03.424202+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1169","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klk11 has been classified as Green List (High Evidence).","entity_name":"KLK11","entity_type":"gene"},{"created":"2023-09-15T10:46:43.452453+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1168","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KLK11 was added\ngene: KLK11 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KLK11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KLK11 were set to 36689511; 37212630\nPhenotypes for gene: KLK11 were set to Ichthyosis with erythrokeratoderma, MIM# 620507\nReview for gene: KLK11 was set to GREEN\nAdded comment: Four families reported: one multiplex with variant segregating with disease in 4 affected and 4 unaffected individuals. Three additional families with de novo variants. \nSources: Literature","entity_name":"KLK11","entity_type":"gene"},{"created":"2023-09-15T10:45:04.842457+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLK11 as ready","entity_name":"KLK11","entity_type":"gene"},{"created":"2023-09-15T10:45:04.824192+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klk11 has been classified as Green List (High Evidence).","entity_name":"KLK11","entity_type":"gene"},{"created":"2023-09-15T10:44:54.345464+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KLK11 as Green List (high evidence)","entity_name":"KLK11","entity_type":"gene"},{"created":"2023-09-15T10:44:54.335784+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klk11 has been classified as Green List (High Evidence).","entity_name":"KLK11","entity_type":"gene"},{"created":"2023-09-15T10:44:23.601862+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KLK11 was added\ngene: KLK11 was added to Ichthyosis. Sources: Literature\nMode of inheritance for gene: KLK11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KLK11 were set to 36689511; 37212630\nPhenotypes for gene: KLK11 were set to Ichthyosis with erythrokeratoderma, MIM#\t620507\nReview for gene: KLK11 was set to GREEN\nAdded comment: Four families reported: one multiplex with variant segregating with disease in 4 affected and 4 unaffected individuals. Three additional families with de novo variants. \nSources: Literature","entity_name":"KLK11","entity_type":"gene"},{"created":"2023-09-15T10:00:03.092078+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5399","user_name":"Kaitlyn Dianna Weldon","item_type":"entity","text":"reviewed gene: VLDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301729; Phenotypes: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 MONDO:0024542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VLDLR","entity_type":"gene"},{"created":"2023-09-15T09:57:52.020284+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5399","user_name":"Kaitlyn Dianna Weldon","item_type":"entity","text":"reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301655; Phenotypes: Cohen syndrome MONDO:0008999; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS13B","entity_type":"gene"},{"created":"2023-09-15T09:56:17.051765+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5399","user_name":"Kaitlyn Dianna Weldon","item_type":"entity","text":"reviewed gene: VRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19646678; Phenotypes: pontocerebellar hypoplasia type 1A MONDO:0011866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VRK1","entity_type":"gene"},{"created":"2023-09-15T09:51:30.414648+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5399","user_name":"Kaitlyn Dianna Weldon","item_type":"entity","text":"reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: None; Publications: 28211668; Phenotypes: X-linked complex neurodevelopmental disorder MONDO:0100148, neurodegeneration with brain iron accumulation 5 MONDO:0010476; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"WDR45","entity_type":"gene"},{"created":"2023-09-15T09:45:03.505240+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5399","user_name":"Kaitlyn Dianna Weldon","item_type":"entity","text":"reviewed gene: WDR73: Rating: GREEN; Mode of pathogenicity: None; Publications: 26123727; Phenotypes: Galloway-Mowat syndrome 1 MONDO:0033005; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WDR73","entity_type":"gene"},{"created":"2023-09-15T09:44:54.731946+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5399","user_name":"Claire Fryer-Smith","item_type":"entity","text":"reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9843046, 22243968, 7296942, 8261650; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MIM#175050, Myhre syndrome MIM#139210, Pancreatic cancer, somatic MIM#260350, Polyposis, juvenile intestinal MIM#174900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SMAD4","entity_type":"gene"},{"created":"2023-09-15T09:39:03.278672+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5399","user_name":"Kaitlyn Dianna Weldon","item_type":"entity","text":"reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 25411445, 24369382; Phenotypes: developmental and epileptic encephalopathy, 28 MONDO:0014533, autosomal recessive spinocerebellar ataxia 12 MONDO:0013687; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WWOX","entity_type":"gene"},{"created":"2023-09-15T09:38:55.897479+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5399","user_name":"Claire Fryer-Smith","item_type":"entity","text":"reviewed gene: XRCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25872942, 25839420, 18695064; Phenotypes: Short stature, microcephaly, and endocrine dysfunction MIM#616541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"XRCC4","entity_type":"gene"},{"created":"2023-09-15T09:33:58.094698+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5399","user_name":"Kaitlyn Dianna Weldon","item_type":"entity","text":"reviewed gene: XRCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25728776; Phenotypes: short stature, microcephaly, and endocrine dysfunction MONDO:0014686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"XRCC4","entity_type":"gene"},{"created":"2023-09-15T09:31:34.981285+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5399","user_name":"Claire Fryer-Smith","item_type":"entity","text":"reviewed gene: TUBB2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 11425694, 23001566, 19465910, 22333901; Phenotypes: Cortical dysplasia, complex, with other brain malformations 7 MIM#610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TUBB2B","entity_type":"gene"},{"created":"2023-09-15T09:27:40.755212+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5399","user_name":"Kaitlyn Dianna Weldon","item_type":"entity","text":"reviewed gene: ZDHHC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 17436253; Phenotypes: Syndromic X-linked intellectual disability Raymond type MONDO:0010427; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ZDHHC9","entity_type":"gene"},{"created":"2023-09-15T09:05:33.341930+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5399","user_name":"Kaitlyn Dianna Weldon","item_type":"entity","text":"reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301682; Phenotypes: hereditary spastic paraplegia 15 MONDO:0010044; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ZFYVE26","entity_type":"gene"},{"created":"2023-09-15T08:50:32.058894+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5399","user_name":"Kaitlyn Dianna Weldon","item_type":"entity","text":"reviewed gene: ZIC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21940735; Phenotypes: holoprosencephaly 5 MONDO:0012322; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZIC2","entity_type":"gene"},{"created":"2023-09-14T13:43:55.921974+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.1","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: HMBS as Green List (high evidence)","entity_name":"HMBS","entity_type":"gene"},{"created":"2023-09-14T13:43:55.902415+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.1","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hmbs has been classified as Green List (High Evidence).","entity_name":"HMBS","entity_type":"gene"},{"created":"2023-09-14T13:43:30.892815+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.0","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: None; Publications: 37113461, 25389600, 18647325, 36335232, 34187794, 30778035, 18816221, 15298749; Phenotypes: Porphyria, acute intermittent MIM#176000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"HMBS","entity_type":"gene"},{"created":"2023-09-14T13:40:15.652811+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.0","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"HMBS","entity_type":"gene"},{"created":"2023-09-14T11:54:46.437255+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5399","user_name":"Claire Fryer-Smith","item_type":"entity","text":"reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10533067, 18830229, 15798777, 17304050; Phenotypes: Tuberous sclerosis-1 MIM#191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TSC1","entity_type":"gene"},{"created":"2023-09-14T11:48:32.458938+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5399","user_name":"Claire Fryer-Smith","item_type":"entity","text":"reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14985384, 10533067, 10205261, 17304050; Phenotypes: Tuberous sclerosis-2 MIM#613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TSC2","entity_type":"gene"},{"created":"2023-09-13T23:06:13.032227+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5399","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"reviewed gene: NR2F2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37500725; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NR2F2","entity_type":"gene"},{"created":"2023-09-13T17:15:55.853046+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NCF1 as Green List (high evidence)","entity_name":"NCF1","entity_type":"gene"},{"created":"2023-09-13T17:15:55.841363+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ncf1 has been classified as Green List (High Evidence).","entity_name":"NCF1","entity_type":"gene"},{"created":"2023-09-13T17:15:40.278124+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.19","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NCF1: Changed rating: GREEN","entity_name":"NCF1","entity_type":"gene"},{"created":"2023-09-13T17:15:18.334025+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.19","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NCF1 as Amber List (moderate evidence)","entity_name":"NCF1","entity_type":"gene"},{"created":"2023-09-13T17:15:18.324131+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ncf1 has been classified as Amber List (Moderate Evidence).","entity_name":"NCF1","entity_type":"gene"},{"created":"2023-09-13T17:15:03.576597+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Tag technically challenging tag was added to gene: NCF1.","entity_name":"NCF1","entity_type":"gene"},{"created":"2023-09-13T17:14:53.769949+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NCF1: Added comment: Mappability issues.; Changed rating: AMBER","entity_name":"NCF1","entity_type":"gene"},{"created":"2023-09-13T17:14:07.215842+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CYP21A2 as Green List (high evidence)","entity_name":"CYP21A2","entity_type":"gene"},{"created":"2023-09-13T17:14:07.197113+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyp21a2 has been classified as Green List (High Evidence).","entity_name":"CYP21A2","entity_type":"gene"},{"created":"2023-09-13T17:13:56.907703+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CYP21A2.\nTag endocrine tag was added to gene: CYP21A2.\nTag technically challenging tag was added to gene: CYP21A2.","entity_name":"CYP21A2","entity_type":"gene"},{"created":"2023-09-13T17:13:38.794825+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CYP21A2: Added comment: Part of Victorian sNBS, therefore include, although technically challenging.; Changed rating: GREEN","entity_name":"CYP21A2","entity_type":"gene"},{"created":"2023-09-13T17:12:26.509668+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Tag technically challenging tag was added to gene: CORO1A.","entity_name":"CORO1A","entity_type":"gene"},{"created":"2023-09-13T17:11:40.400876+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: F8.\nTag technically challenging tag was added to gene: F8.","entity_name":"F8","entity_type":"gene"},{"created":"2023-09-13T17:09:55.854719+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Tag technically challenging tag was added to gene: GBA.","entity_name":"GBA","entity_type":"gene"},{"created":"2023-09-13T17:08:59.815347+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PMS2 as Amber List (moderate evidence)","entity_name":"PMS2","entity_type":"gene"},{"created":"2023-09-13T17:08:59.802696+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pms2 has been classified as Amber List (Moderate Evidence).","entity_name":"PMS2","entity_type":"gene"},{"created":"2023-09-13T17:08:48.820266+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Tag technically challenging tag was added to gene: PMS2.","entity_name":"PMS2","entity_type":"gene"},{"created":"2023-09-13T17:08:32.444573+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PMS2: Added comment: Mappability issues.; Changed rating: AMBER","entity_name":"PMS2","entity_type":"gene"},{"created":"2023-09-13T17:07:52.762051+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IGHM as Amber List (moderate evidence)","entity_name":"IGHM","entity_type":"gene"},{"created":"2023-09-13T17:07:52.749934+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ighm has been classified as Amber List (Moderate Evidence).","entity_name":"IGHM","entity_type":"gene"},{"created":"2023-09-13T17:07:42.346045+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"Tag technically challenging tag was added to gene: IGHM.","entity_name":"IGHM","entity_type":"gene"},{"created":"2023-09-13T17:07:31.869748+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IGHM: Changed rating: AMBER","entity_name":"IGHM","entity_type":"gene"},{"created":"2023-09-13T17:07:23.973573+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: IGHM: RefSeq annotation issues.","entity_name":"IGHM","entity_type":"gene"},{"created":"2023-09-13T17:06:34.879424+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: STRC as Amber List (moderate evidence)","entity_name":"STRC","entity_type":"gene"},{"created":"2023-09-13T17:06:34.864075+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: strc has been classified as Amber List (Moderate Evidence).","entity_name":"STRC","entity_type":"gene"},{"created":"2023-09-13T17:06:24.051166+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Tag technically challenging tag was added to gene: STRC.","entity_name":"STRC","entity_type":"gene"},{"created":"2023-09-13T17:04:44.548706+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: STRC: Added comment: Technical issues with multi-mapping, therefore exclude for now.; Changed rating: AMBER","entity_name":"STRC","entity_type":"gene"},{"created":"2023-09-13T14:25:36.931051+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1916","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GABBR1 were changed from Neurodevelopmental disorder, GABBR1-related, MONDO:0700092 to Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502","entity_name":"GABBR1","entity_type":"gene"},{"created":"2023-09-13T14:24:17.090271+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5399","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GABBR1 were changed from Neurodevelopmental disorder, GABBR1-related, MONDO:0700092 to Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502","entity_name":"GABBR1","entity_type":"gene"},{"created":"2023-09-13T14:23:25.689805+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1167","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GABBR1 were changed from Neurodevelopmental disorder, GABBR1-related, MONDO:0700092 to Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502","entity_name":"GABBR1","entity_type":"gene"},{"created":"2023-09-13T14:23:05.530262+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1166","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GABBR1: Changed phenotypes: Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502","entity_name":"GABBR1","entity_type":"gene"},{"created":"2023-09-13T10:30:54.733457+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5398","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TAB2 as ready","entity_name":"TAB2","entity_type":"gene"},{"created":"2023-09-13T10:30:54.723485+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5398","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tab2 has been classified as Green List (High Evidence).","entity_name":"TAB2","entity_type":"gene"},{"created":"2023-09-13T10:30:48.622657+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5398","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TAB2 as Green List (high evidence)","entity_name":"TAB2","entity_type":"gene"},{"created":"2023-09-13T10:30:48.604661+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5398","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tab2 has been classified as Green List (High Evidence).","entity_name":"TAB2","entity_type":"gene"},{"created":"2023-09-12T14:28:36.491619+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"1.7","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: MATR3 were set to ","entity_name":"MATR3","entity_type":"gene"},{"created":"2023-09-12T14:06:14.487723+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"1.6","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: MATR3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MATR3","entity_type":"gene"},{"created":"2023-09-12T13:12:23.439328+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.43","user_name":"Peter McNaughton","item_type":"entity","text":"reviewed gene: REL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34623332; Phenotypes: Immunodeficiency 92, MIM# 619652, Combined immunodeficiency, T cells: normal, decreased memory CD4, poor proliferation, B cells: low, mostly naive, few switched memory B cells, impaired proliferation, Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms, Defective innate immunity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"REL","entity_type":"gene"},{"created":"2023-09-11T19:20:52.266083+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNA5 as ready","entity_name":"KCNA5","entity_type":"gene"},{"created":"2023-09-11T19:20:52.254306+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcna5 has been classified as Red List (Low Evidence).","entity_name":"KCNA5","entity_type":"gene"},{"created":"2023-09-11T19:20:48.951623+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNA5 were changed from Atrial fibrillation to Atrial fibrillation, familial, 7, MIM# 612240","entity_name":"KCNA5","entity_type":"gene"},{"created":"2023-09-11T19:20:32.491048+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KCNA5 as Red List (low evidence)","entity_name":"KCNA5","entity_type":"gene"},{"created":"2023-09-11T19:20:32.478456+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcna5 has been classified as Red List (Low Evidence).","entity_name":"KCNA5","entity_type":"gene"},{"created":"2023-09-11T19:19:55.278322+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KCNA5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial fibrillation, familial, 7, MIM# 612240; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNA5","entity_type":"gene"},{"created":"2023-09-11T19:18:32.648036+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GABRG2 as ready","entity_name":"GABRG2","entity_type":"gene"},{"created":"2023-09-11T19:18:32.637094+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gabrg2 has been classified as Red List (Low Evidence).","entity_name":"GABRG2","entity_type":"gene"},{"created":"2023-09-11T19:18:22.065977+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GABRG2 as Red List (low evidence)","entity_name":"GABRG2","entity_type":"gene"},{"created":"2023-09-11T19:18:22.045137+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gabrg2 has been classified as Red List (Low Evidence).","entity_name":"GABRG2","entity_type":"gene"},{"created":"2023-09-11T19:18:21.532705+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GABRG2 as Red List (low evidence)","entity_name":"GABRG2","entity_type":"gene"},{"created":"2023-09-11T19:18:21.517462+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gabrg2 has been classified as Red List (Low Evidence).","entity_name":"GABRG2","entity_type":"gene"},{"created":"2023-09-11T19:18:06.869481+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GABRG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 74 618396, Epilepsy, generalized, with febrile seizures plus, type 3 607681; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GABRG2","entity_type":"gene"},{"created":"2023-09-11T19:16:59.946866+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DKC1 as ready","entity_name":"DKC1","entity_type":"gene"},{"created":"2023-09-11T19:16:59.934999+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dkc1 has been classified as Red List (Low Evidence).","entity_name":"DKC1","entity_type":"gene"},{"created":"2023-09-11T19:16:46.048134+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DKC1 were changed from Dyskeratosis congenita, X-linked, MIM#\t305000; Dyskeratosis congenita to Dyskeratosis congenita, X-linked, MIM#\t305000","entity_name":"DKC1","entity_type":"gene"},{"created":"2023-09-11T19:16:22.928900+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DKC1 as Red List (low evidence)","entity_name":"DKC1","entity_type":"gene"},{"created":"2023-09-11T19:16:22.918028+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dkc1 has been classified as Red List (Low Evidence).","entity_name":"DKC1","entity_type":"gene"},{"created":"2023-09-11T19:16:09.558370+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DKC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, X-linked, MIM# 305000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"DKC1","entity_type":"gene"},{"created":"2023-09-11T19:12:07.723758+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDKN2A as ready","entity_name":"CDKN2A","entity_type":"gene"},{"created":"2023-09-11T19:12:07.702874+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdkn2a has been classified as Red List (Low Evidence).","entity_name":"CDKN2A","entity_type":"gene"},{"created":"2023-09-11T19:08:49.403735+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDKN2A were changed from Melanoma to {Melanoma, cutaneous malignant, 2}, MIM# 155601","entity_name":"CDKN2A","entity_type":"gene"},{"created":"2023-09-11T19:08:37.067580+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDKN2A as Red List (low evidence)","entity_name":"CDKN2A","entity_type":"gene"},{"created":"2023-09-11T19:08:37.042756+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdkn2a has been classified as Red List (Low Evidence).","entity_name":"CDKN2A","entity_type":"gene"},{"created":"2023-09-11T19:08:25.788122+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDKN2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Melanoma, cutaneous malignant, 2}, MIM# 155601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDKN2A","entity_type":"gene"},{"created":"2023-09-11T19:05:59.879645+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BMPR2 as ready","entity_name":"BMPR2","entity_type":"gene"},{"created":"2023-09-11T19:05:59.869826+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bmpr2 has been classified as Red List (Low Evidence).","entity_name":"BMPR2","entity_type":"gene"},{"created":"2023-09-11T19:05:56.113008+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BMPR2 were changed from Pulmonary hypertension, familial primary to Pulmonary hypertension, familial primary, 1, with or without HHT, MIM# 178600","entity_name":"BMPR2","entity_type":"gene"},{"created":"2023-09-11T19:05:38.366650+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BMPR2 as Red List (low evidence)","entity_name":"BMPR2","entity_type":"gene"},{"created":"2023-09-11T19:05:38.350602+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bmpr2 has been classified as Red List (Low Evidence).","entity_name":"BMPR2","entity_type":"gene"},{"created":"2023-09-11T19:05:27.242823+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BMPR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary hypertension, familial primary, 1, with or without HHT, MIM# 178600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BMPR2","entity_type":"gene"},{"created":"2023-09-11T19:02:33.784252+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AIP as Red List (low evidence)","entity_name":"AIP","entity_type":"gene"}]}