{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1633","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1631","results":[{"created":"2020-08-28T13:08:31.296913+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3963","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFA13 were set to 25901006","entity_name":"NDUFA13","entity_type":"gene"},{"created":"2020-08-28T13:08:11.910682+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3962","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NDUFA13 as Amber List (moderate evidence)","entity_name":"NDUFA13","entity_type":"gene"},{"created":"2020-08-28T13:08:11.902765+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3962","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufa13 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFA13","entity_type":"gene"},{"created":"2020-08-28T13:07:55.493941+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3961","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NDUFA13: Added comment: Second family reported with some supportive functional data.; Changed rating: AMBER; Changed publications: 25901006, 32722639","entity_name":"NDUFA13","entity_type":"gene"},{"created":"2020-08-28T13:07:26.515192+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.464","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NDUFA13 as Amber List (moderate evidence)","entity_name":"NDUFA13","entity_type":"gene"},{"created":"2020-08-28T13:07:26.504932+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.464","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufa13 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFA13","entity_type":"gene"},{"created":"2020-08-28T13:06:58.094129+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.463","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NDUFA13: Added comment: Second family reported with some supportive functional data.; Changed rating: AMBER; Changed publications: 25901006, 32722639","entity_name":"NDUFA13","entity_type":"gene"},{"created":"2020-08-28T12:31:57.107749+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3961","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: KBTBD13: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 28403181, 31167812, 31671076, 30208948; Phenotypes: Nemaline myopathy 6, autosomal dominant, 609273, Hereditary motor neuropathy, late-onset limb girdle muscular dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"KBTBD13","entity_type":"gene"},{"created":"2020-08-28T09:51:16.489159+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.70","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: C9orf72 as Green List (high evidence)","entity_name":"C9orf72","entity_type":"str"},{"created":"2020-08-28T09:51:16.480668+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.70","user_name":"Bryony Thompson","item_type":"entity","text":"Str: c9orf72 has been classified as Green List (High Evidence).","entity_name":"C9orf72","entity_type":"str"},{"created":"2020-08-28T09:50:48.731941+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.69","user_name":"Bryony Thompson","item_type":"entity","text":"STR: C9orf72 was added\nSTR: C9orf72 was added to Early-onset Dementia. Sources: Expert list\nSTR tags were added to STR: C9orf72.\nMode of inheritance for STR: C9orf72 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: C9orf72 were set to 25577942\nPhenotypes for STR: C9orf72 were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550\nReview for STR: C9orf72 was set to GREEN\nSTR: C9orf72 was marked as clinically relevant\nAdded comment: NG_031977​.1:g.5321GGGGCC[X]\r\nRepeat expansion affects the protein degradation pathways and may contribute to TDP‐43 accumulation\r\nNormal alleles: ≤25 G4C2 hexanucleotide repeat units generally considered normal\r\nPathogenic high-penetrance alleles: ≥60 G4C2 hexanucleotide repeat units are considered pathogenic\r\nNote: The minimal size of a G4C2 pathogenic repeat is under debate: some studies consider repeats of >30 G4C2 hexanucleotide repeat units as pathogenic, whereas others use a cutoff of 60 G4C2 hexanucleotide repeat units. \nSources: Expert list","entity_name":"C9orf72","entity_type":"str"},{"created":"2020-08-28T09:48:14.780353+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMA2 as ready","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-08-28T09:48:14.767016+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lama2 has been classified as Green List (High Evidence).","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-08-28T09:48:11.289789+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMA2 were changed from  to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-08-28T09:47:49.240592+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LAMA2 were set to ","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-08-28T09:47:26.862619+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LAMA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-08-28T09:46:59.443383+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30055037; Phenotypes: Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855, Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-08-28T09:45:10.695316+10:00","panel_name":"Muscular dystrophy","panel_id":141,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMA2 as ready","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-08-28T09:45:10.686932+10:00","panel_name":"Muscular dystrophy","panel_id":141,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lama2 has been classified as Green List (High Evidence).","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-08-28T09:45:07.953823+10:00","panel_name":"Muscular dystrophy","panel_id":141,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMA2 were changed from  to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-08-28T09:44:41.280895+10:00","panel_name":"Muscular dystrophy","panel_id":141,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LAMA2 were set to ","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-08-28T09:44:21.828458+10:00","panel_name":"Muscular dystrophy","panel_id":141,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LAMA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-08-28T09:43:57.260677+10:00","panel_name":"Muscular dystrophy","panel_id":141,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30055037; Phenotypes: Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855, Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-08-28T09:43:00.925431+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3961","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMA2 as ready","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-08-28T09:43:00.906028+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3961","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lama2 has been classified as Green List (High Evidence).","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-08-28T09:42:54.249513+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3961","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMA2 were changed from  to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-08-28T09:42:34.975338+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3960","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LAMA2 were set to ","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-08-28T09:42:17.370573+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3959","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LAMA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-08-28T09:42:00.284099+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3958","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30055037; Phenotypes: Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855, Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-08-28T09:26:35.641279+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMA2 were changed from LAMA2-related muscular dystrophy to LAMA2-related muscular dystrophy; Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-08-28T09:25:57.690629+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-08-28T09:23:35.007042+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GRIN2B as ready","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2020-08-28T09:23:34.992443+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: grin2b has been classified as Green List (High Evidence).","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2020-08-28T09:23:28.948362+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRIN2B were changed from  to Mental retardation, autosomal dominant 6, MIM# 613970; Epileptic encephalopathy, early infantile, 27, MIM# 616139","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2020-08-28T09:23:01.732979+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GRIN2B were set to ","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2020-08-28T09:22:38.104283+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GRIN2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2020-08-28T09:22:10.749743+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GRIN2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28377535; Phenotypes: Mental retardation, autosomal dominant 6, MIM# 613970, Epileptic encephalopathy, early infantile, 27, MIM# 616139; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2020-08-28T09:21:31.843336+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.810","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GRIN2B as ready","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2020-08-28T09:21:31.832104+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.810","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: grin2b has been classified as Green List (High Evidence).","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2020-08-28T09:21:29.582822+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.810","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRIN2B were changed from  to Mental retardation, autosomal dominant 6, MIM# 613970; Epileptic encephalopathy, early infantile, 27, MIM# 616139","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2020-08-28T09:21:04.311701+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.809","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GRIN2B were set to ","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2020-08-28T09:20:42.466198+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.808","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GRIN2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2020-08-28T09:20:17.651684+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.807","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GRIN2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28377535; Phenotypes: Mental retardation, autosomal dominant 6, MIM# 613970, Epileptic encephalopathy, early infantile, 27, MIM# 616139; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2020-08-28T09:19:35.747854+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3958","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GRIN2B as ready","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2020-08-28T09:19:35.739359+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3958","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: grin2b has been classified as Green List (High Evidence).","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2020-08-28T09:19:28.770854+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3958","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRIN2B were changed from  to Mental retardation, autosomal dominant 6, MIM# 613970; Epileptic encephalopathy, early infantile, 27, MIM# 616139","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2020-08-28T09:19:12.068108+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3957","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GRIN2B were set to ","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2020-08-28T09:18:55.893636+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3956","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GRIN2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2020-08-28T09:18:38.906989+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3955","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GRIN2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28377535; Phenotypes: Mental retardation, autosomal dominant 6, MIM# 613970, Epileptic encephalopathy, early infantile, 27, MIM# 616139; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2020-08-28T09:18:29.107447+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2888","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GRIN2B as ready","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2020-08-28T09:18:29.082935+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2888","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: grin2b has been classified as Green List (High Evidence).","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2020-08-28T09:18:20.036272+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2888","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRIN2B were changed from Mental retardation, autosomal dominant 6, MIM# 613970; Epileptic encephalopathy, early infantile, 27, MIM# 616139 to Mental retardation, autosomal dominant 6, MIM# 613970; Epileptic encephalopathy, early infantile, 27, MIM# 616139","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2020-08-28T09:18:04.884154+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2888","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRIN2B were changed from  to Mental retardation, autosomal dominant 6, MIM# 613970; Epileptic encephalopathy, early infantile, 27, MIM# 616139","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2020-08-28T09:17:30.071353+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2887","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GRIN2B were set to ","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2020-08-28T09:16:48.698171+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2886","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GRIN2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2020-08-28T09:16:18.545752+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2885","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GRIN2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28377535; Phenotypes: Mental retardation, autosomal dominant 6, MIM# 613970, Epileptic encephalopathy, early infantile, 27, MIM# 616139; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2020-08-28T09:09:33.456615+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRIN2B were changed from GRIN2B-related neurodevelopmental disorder to GRIN2B-related neurodevelopmental disorder; Mental retardation, autosomal dominant 6, MIM# 613970","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2020-08-28T09:09:01.498817+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GRIN2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 6, MIM# 613970; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2020-08-28T09:07:25.795832+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GRIN1 as ready","entity_name":"GRIN1","entity_type":"gene"},{"created":"2020-08-28T09:07:25.787211+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: grin1 has been classified as Green List (High Evidence).","entity_name":"GRIN1","entity_type":"gene"},{"created":"2020-08-28T09:07:16.518076+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GRIN1 as Green List (high evidence)","entity_name":"GRIN1","entity_type":"gene"},{"created":"2020-08-28T09:07:16.507825+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: grin1 has been classified as Green List (High Evidence).","entity_name":"GRIN1","entity_type":"gene"},{"created":"2020-08-28T09:07:07.146666+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GRIN1 was added\ngene: GRIN1 was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: GRIN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: GRIN1 were set to 29365063; 27164704; 27164704; 28051072\nPhenotypes for gene: GRIN1 were set to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820\nReview for gene: GRIN1 was set to GREEN\nAdded comment: Over 20 individuals reported with de novo missense variants in GRIN1 and severe neurodevelopmental phenotype, comprising ID, seizures, and a movement disorder, in particular dystonia. Two families reported with bi-allelic variants: different mechanism postulated (LOF vs affecting channel functioning or hypomorphic alleles), parents were carriers and unaffected. Movement disorder, in particular dystonia also reported in bi-allelic cases. \nSources: Expert list","entity_name":"GRIN1","entity_type":"gene"},{"created":"2020-08-28T09:04:47.339093+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3955","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GRIN1 as ready","entity_name":"GRIN1","entity_type":"gene"},{"created":"2020-08-28T09:04:47.328563+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3955","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: grin1 has been classified as Green List (High Evidence).","entity_name":"GRIN1","entity_type":"gene"},{"created":"2020-08-28T09:04:40.823566+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3955","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRIN1 were changed from  to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820","entity_name":"GRIN1","entity_type":"gene"},{"created":"2020-08-28T09:04:23.528690+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3954","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GRIN1 were set to ","entity_name":"GRIN1","entity_type":"gene"},{"created":"2020-08-28T09:04:06.993655+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3953","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GRIN1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GRIN1","entity_type":"gene"},{"created":"2020-08-28T09:03:51.479716+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3952","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GRIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29365063, 27164704, 27164704, 28051072; Phenotypes: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GRIN1","entity_type":"gene"},{"created":"2020-08-28T09:03:02.310587+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.807","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GRIN1 as ready","entity_name":"GRIN1","entity_type":"gene"},{"created":"2020-08-28T09:03:02.302005+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.807","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: grin1 has been classified as Green List (High Evidence).","entity_name":"GRIN1","entity_type":"gene"},{"created":"2020-08-28T09:02:59.468485+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.807","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRIN1 were changed from  to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254","entity_name":"GRIN1","entity_type":"gene"},{"created":"2020-08-28T09:02:31.297539+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.806","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GRIN1 were set to ","entity_name":"GRIN1","entity_type":"gene"},{"created":"2020-08-28T09:02:05.941831+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.805","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GRIN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIN1","entity_type":"gene"},{"created":"2020-08-28T09:01:37.831453+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.804","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GRIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29365063, 27164704; Phenotypes: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIN1","entity_type":"gene"},{"created":"2020-08-28T09:00:14.592749+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2885","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GRIN1 as ready","entity_name":"GRIN1","entity_type":"gene"},{"created":"2020-08-28T09:00:14.578260+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2885","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: grin1 has been classified as Green List (High Evidence).","entity_name":"GRIN1","entity_type":"gene"},{"created":"2020-08-28T09:00:04.373997+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2885","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRIN1 were changed from  to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820","entity_name":"GRIN1","entity_type":"gene"},{"created":"2020-08-28T08:59:35.962995+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2884","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GRIN1 were set to ","entity_name":"GRIN1","entity_type":"gene"},{"created":"2020-08-28T08:59:10.168203+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2883","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GRIN1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GRIN1","entity_type":"gene"},{"created":"2020-08-28T08:58:34.841294+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2882","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GRIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29365063, 27164704, 27164704, 28051072; Phenotypes: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GRIN1","entity_type":"gene"},{"created":"2020-08-28T08:54:19.210545+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GRIN1 as ready","entity_name":"GRIN1","entity_type":"gene"},{"created":"2020-08-28T08:54:19.205924+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: All variants occurred between residues 559 and 828, and there may be an association between variant location and PMG.","entity_name":"GRIN1","entity_type":"gene"},{"created":"2020-08-28T08:54:19.166657+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: grin1 has been classified as Green List (High Evidence).","entity_name":"GRIN1","entity_type":"gene"},{"created":"2020-08-28T08:50:11.035127+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRIN1 were changed from GRIN1-related neurodevelopmental disorder to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM#\t614254","entity_name":"GRIN1","entity_type":"gene"},{"created":"2020-08-28T05:57:21.911084+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2882","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HARS were set to 32296180","entity_name":"HARS","entity_type":"gene"},{"created":"2020-08-28T05:56:49.106207+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2881","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: HARS: Please note this is the correct PMID for this disease association","entity_name":"HARS","entity_type":"gene"},{"created":"2020-08-28T05:56:26.532696+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2881","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HARS: Rating: AMBER; Mode of pathogenicity: None; Publications: 32333447; Phenotypes: multisystem ataxic syndrome, mild-severe intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HARS","entity_type":"gene"},{"created":"2020-08-28T05:55:55.202675+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.222","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HARS were set to 32296180","entity_name":"HARS","entity_type":"gene"},{"created":"2020-08-28T05:55:34.335013+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.221","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HARS: Rating: AMBER; Mode of pathogenicity: None; Publications: 32333447; Phenotypes: multisystem ataxic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HARS","entity_type":"gene"},{"created":"2020-08-27T21:09:57.341810+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZNF674 was added\ngene: ZNF674 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ZNF674 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ZNF674 were set to Mental retardation","entity_name":"ZNF674","entity_type":"gene"},{"created":"2020-08-27T21:09:56.829849+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZNF252P was added\ngene: ZNF252P was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ZNF252P was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ZNF252P were set to Hypothyroidism","entity_name":"ZNF252P","entity_type":"gene"},{"created":"2020-08-27T21:09:56.030372+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZFPM2 was added\ngene: ZFPM2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ZFPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ZFPM2 were set to Tetralogy of Fallot","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2020-08-27T21:09:55.441635+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: YARS2 was added\ngene: YARS2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: YARS2 were set to Myopathy, lactic acidosis, and sideroblastic anemia","entity_name":"YARS2","entity_type":"gene"},{"created":"2020-08-27T21:09:54.642558+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WRAP53 was added\ngene: WRAP53 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WRAP53 were set to Dyskeratosis congenita","entity_name":"WRAP53","entity_type":"gene"},{"created":"2020-08-27T21:09:54.123115+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WNT7A was added\ngene: WNT7A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WNT7A were set to Ulna and fibula absence of with severe limb deficiency","entity_name":"WNT7A","entity_type":"gene"},{"created":"2020-08-27T21:09:53.325133+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WNT5A was added\ngene: WNT5A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: WNT5A were set to Robinow syndrome","entity_name":"WNT5A","entity_type":"gene"},{"created":"2020-08-27T21:09:52.738351+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WNT3 was added\ngene: WNT3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WNT3 were set to Tetra-amelia, autosomal recessive","entity_name":"WNT3","entity_type":"gene"},{"created":"2020-08-27T21:09:51.941648+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WNK1 was added\ngene: WNK1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WNK1 were set to Neuropathy, hereditary sensory and autonomic, type I","entity_name":"WNK1","entity_type":"gene"},{"created":"2020-08-27T21:09:51.426134+10:00","panel_name":"Newborn Screening_BabySeq","panel_id":3302,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WDR36 was added\ngene: WDR36 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: WDR36 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: WDR36 were set to Glaucoma","entity_name":"WDR36","entity_type":"gene"}]}