{"count":220313,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1355","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1353","results":[{"created":"2021-04-13T13:20:52.602522+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7135","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMP2 were changed from  to Danon disease, MIM# 300257; MONDO:0010281","entity_name":"LAMP2","entity_type":"gene"},{"created":"2021-04-13T13:20:32.829227+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7134","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LAMP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"LAMP2","entity_type":"gene"},{"created":"2021-04-13T13:20:15.304500+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7133","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Danon disease, MIM# 300257, MONDO:0010281; 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":"LAMP2","entity_type":"gene"},{"created":"2021-04-13T13:20:13.640042+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LAMP2 was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"LAMP2","entity_type":"gene"},{"created":"2021-04-13T13:19:14.377563+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMP2 as ready","entity_name":"LAMP2","entity_type":"gene"},{"created":"2021-04-13T13:19:14.365933+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamp2 has been classified as Green List (High Evidence).","entity_name":"LAMP2","entity_type":"gene"},{"created":"2021-04-13T13:19:11.255260+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMP2 were changed from  to Danon disease, MIM# 300257; MONDO:0010281","entity_name":"LAMP2","entity_type":"gene"},{"created":"2021-04-13T13:18:47.126645+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LAMP2 was changed from Unknown to Other","entity_name":"LAMP2","entity_type":"gene"},{"created":"2021-04-13T13:18:14.633381+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: XLD. Vacuolar cardiomyopathy and myopathy.; to: XLD. Vacuolar cardiomyopathy and myopathy. Gene encodes lysosome-associated membrane protein-2.","entity_name":"LAMP2","entity_type":"gene"},{"created":"2021-04-13T13:17:48.347444+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Danon disease, MIM# 300257, MONDO:0010281; Mode of inheritance: Other","entity_name":"LAMP2","entity_type":"gene"},{"created":"2021-04-13T08:59:59.417603+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7133","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IDUA were changed from Mucopolysaccharidosis Ih (MIM#607014); Mucopolysaccharidosis Ih/s (MIM#607015); Mucopolysaccharidosis Is (MIM#6070) to Mucopolysaccharidosis Ih (MIM#607014); Mucopolysaccharidosis Ih/s (MIM#607015); Mucopolysaccharidosis Is (MIM#6070); Mucopolysaccharidosis type 1, MONDO:0001586","entity_name":"IDUA","entity_type":"gene"},{"created":"2021-04-13T08:59:31.698200+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7132","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type 1, MONDO:0001586; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IDUA","entity_type":"gene"},{"created":"2021-04-13T08:58:53.916216+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IDUA as ready","entity_name":"IDUA","entity_type":"gene"},{"created":"2021-04-13T08:58:53.905393+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: idua has been classified as Green List (High Evidence).","entity_name":"IDUA","entity_type":"gene"},{"created":"2021-04-13T08:58:50.756340+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IDUA were changed from  to Mucopolysaccharidosis Ih, MIM# 607014; Mucopolysaccharidosis Ih/s, MIM# 607015; Mucopolysaccharidosis Is, MIM# 607016; Mucopolysaccharidosis type 1, MONDO:0001586","entity_name":"IDUA","entity_type":"gene"},{"created":"2021-04-13T08:58:25.548666+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IDUA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IDUA","entity_type":"gene"},{"created":"2021-04-13T08:57:52.173484+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis Ih, MIM# 607014, Mucopolysaccharidosis Ih/s, MIM# 607015, Mucopolysaccharidosis Is, MIM# 607016, Mucopolysaccharidosis type 1, MONDO:0001586; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IDUA","entity_type":"gene"},{"created":"2021-04-12T21:32:08.312744+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7132","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IDS as ready","entity_name":"IDS","entity_type":"gene"},{"created":"2021-04-12T21:32:08.300983+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7132","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ids has been classified as Green List (High Evidence).","entity_name":"IDS","entity_type":"gene"},{"created":"2021-04-12T21:32:01.030498+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7132","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IDS were changed from  to Mucopolysaccharidosis II, MIM# 309900; MONDO:0010674; Hunter syndrome","entity_name":"IDS","entity_type":"gene"},{"created":"2021-04-12T21:31:42.643078+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7131","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IDS were set to ","entity_name":"IDS","entity_type":"gene"},{"created":"2021-04-12T21:31:25.469263+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7130","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IDS","entity_type":"gene"},{"created":"2021-04-12T21:31:07.262778+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7129","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9921913, 9762601, 8940265, 1901826; Phenotypes: Mucopolysaccharidosis II, MIM# 309900, MONDO:0010674, Hunter syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IDS","entity_type":"gene"},{"created":"2021-04-12T21:30:06.327004+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IDS as ready","entity_name":"IDS","entity_type":"gene"},{"created":"2021-04-12T21:30:06.305353+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ids has been classified as Green List (High Evidence).","entity_name":"IDS","entity_type":"gene"},{"created":"2021-04-12T21:30:03.592727+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IDS were changed from  to Mucopolysaccharidosis II, MIM# 309900; MONDO:0010674; Hunter syndrome","entity_name":"IDS","entity_type":"gene"},{"created":"2021-04-12T21:29:39.853754+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IDS were set to ","entity_name":"IDS","entity_type":"gene"},{"created":"2021-04-12T21:29:08.820950+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IDS","entity_type":"gene"},{"created":"2021-04-12T21:28:35.399495+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9921913, 9762601, 8940265, 1901826; Phenotypes: Mucopolysaccharidosis II, MIM# 309900, MONDO:0010674, Hunter syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IDS","entity_type":"gene"},{"created":"2021-04-12T16:52:33.760780+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3646","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: USP18 as ready","entity_name":"USP18","entity_type":"gene"},{"created":"2021-04-12T16:52:33.751116+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3646","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp18 has been classified as Green List (High Evidence).","entity_name":"USP18","entity_type":"gene"},{"created":"2021-04-12T16:52:28.247832+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3646","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: USP18 were changed from  to Pseudo-TORCH syndrome 2; OMIM #617397","entity_name":"USP18","entity_type":"gene"},{"created":"2021-04-12T16:51:52.470885+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3645","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: USP18 were set to ","entity_name":"USP18","entity_type":"gene"},{"created":"2021-04-12T16:51:13.737812+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3644","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: USP18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"USP18","entity_type":"gene"},{"created":"2021-04-12T16:14:53.325157+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.6","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: TSPOAP1 as ready","entity_name":"TSPOAP1","entity_type":"gene"},{"created":"2021-04-12T16:14:53.313442+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.6","user_name":"Alison Yeung","item_type":"entity","text":"Gene: tspoap1 has been classified as Green List (High Evidence).","entity_name":"TSPOAP1","entity_type":"gene"},{"created":"2021-04-12T16:14:50.054652+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.6","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: TSPOAP1 as Green List (high evidence)","entity_name":"TSPOAP1","entity_type":"gene"},{"created":"2021-04-12T16:14:50.044616+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.6","user_name":"Alison Yeung","item_type":"entity","text":"Gene: tspoap1 has been classified as Green List (High Evidence).","entity_name":"TSPOAP1","entity_type":"gene"},{"created":"2021-04-12T16:13:15.385709+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3643","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: TSPOAP1 as ready","entity_name":"TSPOAP1","entity_type":"gene"},{"created":"2021-04-12T16:13:15.372872+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3643","user_name":"Alison Yeung","item_type":"entity","text":"Gene: tspoap1 has been classified as Green List (High Evidence).","entity_name":"TSPOAP1","entity_type":"gene"},{"created":"2021-04-12T16:13:07.761234+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3643","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: TSPOAP1 as Green List (high evidence)","entity_name":"TSPOAP1","entity_type":"gene"},{"created":"2021-04-12T16:13:07.752017+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3643","user_name":"Alison Yeung","item_type":"entity","text":"Gene: tspoap1 has been classified as Green List (High Evidence).","entity_name":"TSPOAP1","entity_type":"gene"},{"created":"2021-04-12T16:11:15.178468+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.216","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: CLDN11 as ready","entity_name":"CLDN11","entity_type":"gene"},{"created":"2021-04-12T16:11:15.162745+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.216","user_name":"Alison Yeung","item_type":"entity","text":"Gene: cldn11 has been classified as Green List (High Evidence).","entity_name":"CLDN11","entity_type":"gene"},{"created":"2021-04-12T16:11:10.642846+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.216","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: CLDN11 as Green List (high evidence)","entity_name":"CLDN11","entity_type":"gene"},{"created":"2021-04-12T16:11:10.631831+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.216","user_name":"Alison Yeung","item_type":"entity","text":"Gene: cldn11 has been classified as Green List (High Evidence).","entity_name":"CLDN11","entity_type":"gene"},{"created":"2021-04-12T16:10:38.346321+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.215","user_name":"Melanie Marty","item_type":"entity","text":"gene: CLDN11 was added\ngene: CLDN11 was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: CLDN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CLDN11 were set to 33313762\nPhenotypes for gene: CLDN11 were set to Hypomyelinating leukodystrophy\nReview for gene: CLDN11 was set to GREEN\nAdded comment: In three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including hypermetropia, 2 different heterozygous de novo stop-loss variants were identified. One of the variants did not lead to a loss of CLDN11 expression on RNA level in fibroblasts indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein. \nSources: Literature","entity_name":"CLDN11","entity_type":"gene"},{"created":"2021-04-12T16:10:37.777906+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.79","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: SYK as ready","entity_name":"SYK","entity_type":"gene"},{"created":"2021-04-12T16:10:37.765106+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.79","user_name":"Alison Yeung","item_type":"entity","text":"Gene: syk has been classified as Green List (High Evidence).","entity_name":"SYK","entity_type":"gene"},{"created":"2021-04-12T16:10:30.771811+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.79","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: SYK as Green List (high evidence)","entity_name":"SYK","entity_type":"gene"},{"created":"2021-04-12T16:10:30.760925+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.79","user_name":"Alison Yeung","item_type":"entity","text":"Gene: syk has been classified as Green List (High Evidence).","entity_name":"SYK","entity_type":"gene"},{"created":"2021-04-12T16:08:59.101999+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7129","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: ERBB2 as Red List (low evidence)","entity_name":"ERBB2","entity_type":"gene"},{"created":"2021-04-12T16:08:59.087381+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7129","user_name":"Alison Yeung","item_type":"entity","text":"Gene: erbb2 has been classified as Red List (Low Evidence).","entity_name":"ERBB2","entity_type":"gene"},{"created":"2021-04-12T16:06:31.759406+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7128","user_name":"Teresa Zhao","item_type":"entity","text":"reviewed gene: ERBB2: Rating: RED; Mode of pathogenicity: None; Publications: 33720042; Phenotypes: Hirschsprung disease (HSCR, aganglionic megacolon, MIM#142623); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERBB2","entity_type":"gene"},{"created":"2021-04-12T16:03:39.078547+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.65","user_name":"Tiong Tan","item_type":"entity","text":"Publications for gene: RBCK1 were set to PMID: 7971833","entity_name":"RBCK1","entity_type":"gene"},{"created":"2021-04-12T16:03:07.310368+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.64","user_name":"Tiong Tan","item_type":"entity","text":"Marked gene: RBCK1 as ready","entity_name":"RBCK1","entity_type":"gene"},{"created":"2021-04-12T16:03:07.305490+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.64","user_name":"Tiong Tan","item_type":"entity","text":"Added comment: Comment when marking as ready: Need to add to immune superpanel","entity_name":"RBCK1","entity_type":"gene"},{"created":"2021-04-12T16:03:07.268147+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.64","user_name":"Tiong Tan","item_type":"entity","text":"Gene: rbck1 has been classified as Green List (High Evidence).","entity_name":"RBCK1","entity_type":"gene"},{"created":"2021-04-12T16:02:19.273482+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.64","user_name":"Tiong Tan","item_type":"entity","text":"Classified gene: RBCK1 as Green List (high evidence)","entity_name":"RBCK1","entity_type":"gene"},{"created":"2021-04-12T16:02:19.263918+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.64","user_name":"Tiong Tan","item_type":"entity","text":"Gene: rbck1 has been classified as Green List (High Evidence).","entity_name":"RBCK1","entity_type":"gene"},{"created":"2021-04-12T16:00:57.962165+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7128","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: VWA1 as ready","entity_name":"VWA1","entity_type":"gene"},{"created":"2021-04-12T16:00:57.950786+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7128","user_name":"Alison Yeung","item_type":"entity","text":"Gene: vwa1 has been classified as Green List (High Evidence).","entity_name":"VWA1","entity_type":"gene"},{"created":"2021-04-12T16:00:32.716763+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7128","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: VWA1 as Green List (high evidence)","entity_name":"VWA1","entity_type":"gene"},{"created":"2021-04-12T16:00:32.703957+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7128","user_name":"Alison Yeung","item_type":"entity","text":"Gene: vwa1 has been classified as Green List (High Evidence).","entity_name":"VWA1","entity_type":"gene"},{"created":"2021-04-12T16:00:17.681102+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.63","user_name":"Tiong Tan","item_type":"entity","text":"reviewed gene: RBCK1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RBCK1","entity_type":"gene"},{"created":"2021-04-12T15:59:00.340131+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7127","user_name":"Melanie Marty","item_type":"entity","text":"gene: VWA1 was added\ngene: VWA1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: VWA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VWA1 were set to 33459760; 33693694; 33559681\nPhenotypes for gene: VWA1 were set to Hereditary motor neuropathy\nReview for gene: VWA1 was set to GREEN\nAdded comment: Six different truncating variants identified in 15 affected individuals from six families (biallelic inheritance). Disease manifested in childhood or adulthood with proximal and distal muscle weakness predominantly of the lower limbs. Myopathological and neurophysiological findings were indicative of combined neurogenic and myopathic pathology. Early childhood foot deformity was frequent, but no sensory signs were observed.\r\n\r\nAn additional 17 individuals from 15 families with hereditary motor neuropathy were identified. A 10-bp repeat expansion at the end of exon 1 was observed in 14 families and was homozygous in 10 of them. This mutation, c.62_71dup [p.Gly25Argfs*74], leads to a frameshift that results in a reduction in VWA1 transcript levels via nonsense-mediated decay. \nSources: Literature","entity_name":"VWA1","entity_type":"gene"},{"created":"2021-04-12T15:58:08.368118+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3642","user_name":"Ain Roesley","item_type":"entity","text":"gene: TSPOAP1 was added\ngene: TSPOAP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TSPOAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TSPOAP1 were set to 33539324\nPhenotypes for gene: TSPOAP1 were set to Dystonia, intellectual disability and cerebellar atrophy\nPenetrance for gene: TSPOAP1 were set to unknown\nReview for gene: TSPOAP1 was set to GREEN\nAdded comment: 7 affecteds from 3 families (1 consanguineous)\r\n2x null, 1x missense\r\n\r\nAffecteds with the null variants presented with juvenile-onset progressive generalized dystonia, associated with intellectual disability and cerebellar atrophy while those with the missense p.(Gly1808Ser) presented with isolated adult-onset focal dystonia (mild cognitive impairment noted)\r\n\r\nmice KO models were investigated \nSources: Literature","entity_name":"TSPOAP1","entity_type":"gene"},{"created":"2021-04-12T15:57:47.427419+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7127","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: GIPC1 as Amber List (moderate evidence)","entity_name":"GIPC1","entity_type":"gene"},{"created":"2021-04-12T15:57:47.416590+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7127","user_name":"Alison Yeung","item_type":"entity","text":"Gene: gipc1 has been classified as Amber List (Moderate Evidence).","entity_name":"GIPC1","entity_type":"gene"},{"created":"2021-04-12T15:56:14.817596+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.5","user_name":"Ain Roesley","item_type":"entity","text":"gene: TSPOAP1 was added\ngene: TSPOAP1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: TSPOAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TSPOAP1 were set to 33539324\nPhenotypes for gene: TSPOAP1 were set to Dystonia, intellectual disability and cerebellar atrophy\nPenetrance for gene: TSPOAP1 were set to unknown\nReview for gene: TSPOAP1 was set to GREEN\nAdded comment: 7 affecteds from 3 families (1 consanguineous)\r\n2x null, 1x missense\r\n\r\nAffecteds with the null variants presented with juvenile-onset progressive generalized dystonia, associated with intellectual disability and cerebellar atrophy while those with the missense p.(Gly1808Ser) presented with isolated adult-onset focal dystonia (mild cognitive impairment noted)\r\n\r\nmice KO models were investigated \nSources: Literature","entity_name":"TSPOAP1","entity_type":"gene"},{"created":"2021-04-12T15:55:09.250685+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1054","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: NCDN as ready","entity_name":"NCDN","entity_type":"gene"},{"created":"2021-04-12T15:55:09.240988+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1054","user_name":"Alison Yeung","item_type":"entity","text":"Gene: ncdn has been classified as Green List (High Evidence).","entity_name":"NCDN","entity_type":"gene"},{"created":"2021-04-12T15:55:03.538720+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1054","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: NCDN as Green List (high evidence)","entity_name":"NCDN","entity_type":"gene"},{"created":"2021-04-12T15:55:03.520289+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1054","user_name":"Alison Yeung","item_type":"entity","text":"Gene: ncdn has been classified as Green List (High Evidence).","entity_name":"NCDN","entity_type":"gene"},{"created":"2021-04-12T15:54:55.287867+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7126","user_name":"Tiong Tan","item_type":"entity","text":"Marked gene: TSPOAP1 as ready","entity_name":"TSPOAP1","entity_type":"gene"},{"created":"2021-04-12T15:54:55.277304+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7126","user_name":"Tiong Tan","item_type":"entity","text":"Gene: tspoap1 has been classified as Green List (High Evidence).","entity_name":"TSPOAP1","entity_type":"gene"},{"created":"2021-04-12T15:53:43.224598+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.171","user_name":"Tiong Tan","item_type":"entity","text":"gene: TSPOAP1 was added\ngene: TSPOAP1 was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: TSPOAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TSPOAP1 were set to 33539324\nPhenotypes for gene: TSPOAP1 were set to dystonia; intellectual disability; cerebellar atrophy\nPenetrance for gene: TSPOAP1 were set to Complete\nReview for gene: TSPOAP1 was set to GREEN\nAdded comment: Sources: Literature","entity_name":"TSPOAP1","entity_type":"gene"},{"created":"2021-04-12T15:53:40.406723+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3642","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: NCDN as ready","entity_name":"NCDN","entity_type":"gene"},{"created":"2021-04-12T15:53:40.397252+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3642","user_name":"Alison Yeung","item_type":"entity","text":"Gene: ncdn has been classified as Green List (High Evidence).","entity_name":"NCDN","entity_type":"gene"},{"created":"2021-04-12T15:53:35.530887+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3642","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: NCDN as Green List (high evidence)","entity_name":"NCDN","entity_type":"gene"},{"created":"2021-04-12T15:53:35.522385+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3642","user_name":"Alison Yeung","item_type":"entity","text":"Gene: ncdn has been classified as Green List (High Evidence).","entity_name":"NCDN","entity_type":"gene"},{"created":"2021-04-12T15:51:35.711256+10:00","panel_name":"Vitreoretinopathy","panel_id":3113,"panel_version":"1.1","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: CTNNA1 as ready","entity_name":"CTNNA1","entity_type":"gene"},{"created":"2021-04-12T15:51:35.701823+10:00","panel_name":"Vitreoretinopathy","panel_id":3113,"panel_version":"1.1","user_name":"Alison Yeung","item_type":"entity","text":"Gene: ctnna1 has been classified as Green List (High Evidence).","entity_name":"CTNNA1","entity_type":"gene"},{"created":"2021-04-12T15:51:32.568304+10:00","panel_name":"Vitreoretinopathy","panel_id":3113,"panel_version":"1.1","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: CTNNA1 as Green List (high evidence)","entity_name":"CTNNA1","entity_type":"gene"},{"created":"2021-04-12T15:51:32.553167+10:00","panel_name":"Vitreoretinopathy","panel_id":3113,"panel_version":"1.1","user_name":"Alison Yeung","item_type":"entity","text":"Gene: ctnna1 has been classified as Green List (High Evidence).","entity_name":"CTNNA1","entity_type":"gene"},{"created":"2021-04-12T15:50:38.892234+10:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.13","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: ERBB3 as ready","entity_name":"ERBB3","entity_type":"gene"},{"created":"2021-04-12T15:50:38.881929+10:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.13","user_name":"Alison Yeung","item_type":"entity","text":"Gene: erbb3 has been classified as Green List (High Evidence).","entity_name":"ERBB3","entity_type":"gene"},{"created":"2021-04-12T15:50:35.417764+10:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.13","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: ERBB3 as Green List (high evidence)","entity_name":"ERBB3","entity_type":"gene"},{"created":"2021-04-12T15:50:35.408300+10:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.13","user_name":"Alison Yeung","item_type":"entity","text":"Gene: erbb3 has been classified as Green List (High Evidence).","entity_name":"ERBB3","entity_type":"gene"},{"created":"2021-04-12T15:50:16.098274+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7126","user_name":"Tiong Tan","item_type":"entity","text":"Classified gene: TSPOAP1 as Green List (high evidence)","entity_name":"TSPOAP1","entity_type":"gene"},{"created":"2021-04-12T15:50:16.093031+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7126","user_name":"Tiong Tan","item_type":"entity","text":"Added comment: Comment on list classification: Need to add to HSP gene lists too - dystonia/HSP","entity_name":"TSPOAP1","entity_type":"gene"},{"created":"2021-04-12T15:50:16.052131+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7126","user_name":"Tiong Tan","item_type":"entity","text":"Gene: tspoap1 has been classified as Green List (High Evidence).","entity_name":"TSPOAP1","entity_type":"gene"},{"created":"2021-04-12T15:49:28.461892+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7125","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: CLDN11 as ready","entity_name":"CLDN11","entity_type":"gene"},{"created":"2021-04-12T15:49:28.452061+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7125","user_name":"Alison Yeung","item_type":"entity","text":"Gene: cldn11 has been classified as Green List (High Evidence).","entity_name":"CLDN11","entity_type":"gene"},{"created":"2021-04-12T15:49:16.614465+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7125","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: CLDN11 as Green List (high evidence)","entity_name":"CLDN11","entity_type":"gene"},{"created":"2021-04-12T15:49:16.597436+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7125","user_name":"Alison Yeung","item_type":"entity","text":"Gene: cldn11 has been classified as Green List (High Evidence).","entity_name":"CLDN11","entity_type":"gene"},{"created":"2021-04-12T15:48:34.411334+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7124","user_name":"Dean Phelan","item_type":"entity","text":"reviewed gene: GIPC1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33374016; Phenotypes: Oculopharyngodistal myopathy 2 (MIM#618940); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GIPC1","entity_type":"gene"},{"created":"2021-04-12T15:48:16.572550+10:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.12","user_name":"Teresa Zhao","item_type":"entity","text":"gene: ERBB3 was added\ngene: ERBB3 was added to Hirschsprung disease. Sources: Literature\nMode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERBB3 were set to 33720042\nPhenotypes for gene: ERBB3 were set to Hirschsprung disease (HSCR) aganglionic megacolon, MIM#142623\nReview for gene: ERBB3 was set to GREEN\nAdded comment: Seven variants (missense and frameshfit) from four independent families with Hirschsprung disease (HSCR) reported.\r\n\r\nAll reported individuals variably associated with conditions such as HSCR, chronic intestinal pseudo-obstruction, peripheral neuropathy, and arthrogryposis.\r\n\r\nFunctional study revealed mutant proteins reduced protein expression or altered phosphorylation of the mutant receptors. \nSources: Literature","entity_name":"ERBB3","entity_type":"gene"},{"created":"2021-04-12T15:45:21.803788+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1053","user_name":"Ain Roesley","item_type":"entity","text":"gene: NCDN was added\ngene: NCDN was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: NCDN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: NCDN were set to 33711248\nPhenotypes for gene: NCDN were set to neurodevelopmental delay, intellectual disability, and epilepsy\nPenetrance for gene: NCDN were set to unknown\nReview for gene: NCDN was set to GREEN\nAdded comment: 4x families all missense and de novo except for 1 consag family where 3 affecteds were homozygous and carrier parents unaffected\r\n\r\nID ranged from mild to severe\r\n3/4 probands had seizures\r\nonly 3 affecteds had MRI done, with 1 delayed myelination\r\n\r\nin vitro studies were done \nSources: Literature","entity_name":"NCDN","entity_type":"gene"},{"created":"2021-04-12T15:45:20.062708+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7124","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: ERBB3 as Green List (high evidence)","entity_name":"ERBB3","entity_type":"gene"}]}