{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=401","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=399","results":[{"created":"2024-09-04T16:45:46.125924+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.320","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYBBP1A as Green List (high evidence)","entity_name":"MYBBP1A","entity_type":"gene"},{"created":"2024-09-04T16:45:46.099273+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.320","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mybbp1a has been classified as Green List (High Evidence).","entity_name":"MYBBP1A","entity_type":"gene"},{"created":"2024-09-04T16:45:31.609052+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.257","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: EPM2A were set to ","entity_name":"EPM2A","entity_type":"gene"},{"created":"2024-09-04T16:45:05.348606+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.319","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYBBP1A as Green List (high evidence)","entity_name":"MYBBP1A","entity_type":"gene"},{"created":"2024-09-04T16:45:05.320113+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.319","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mybbp1a has been classified as Green List (High Evidence).","entity_name":"MYBBP1A","entity_type":"gene"},{"created":"2024-09-04T16:44:32.970593+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.256","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: FREM1 as ready","entity_name":"FREM1","entity_type":"gene"},{"created":"2024-09-04T16:44:32.964153+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.256","user_name":"Lilian Downie","item_type":"entity","text":"Added comment: Comment when marking as ready: 2 AR phenotypes with this gene - have not been assessed by ClinGen yet but appear to be spectrum of the same condition.","entity_name":"FREM1","entity_type":"gene"},{"created":"2024-09-04T16:44:32.907016+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.256","user_name":"Lilian Downie","item_type":"entity","text":"Gene: frem1 has been classified as Green List (High Evidence).","entity_name":"FREM1","entity_type":"gene"},{"created":"2024-09-04T16:44:11.252943+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.318","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYBBP1A was added\ngene: MYBBP1A was added to Hydrops fetalis. Sources: Literature\nMode of inheritance for gene: MYBBP1A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYBBP1A were set to 39191491; 28425981\nPhenotypes for gene: MYBBP1A were set to Hydrops fetalis, MONDO:0015193, MYBBP1A-related\nReview for gene: MYBBP1A was set to GREEN\nAdded comment: Three unrelated fetuses with bi-allelic variants in this gene and severe hydrops. \nSources: Literature","entity_name":"MYBBP1A","entity_type":"gene"},{"created":"2024-09-04T16:44:02.859287+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.256","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: FREM1 were changed from Bifid nose with or without anorectal and renal anomalies, 608980 (3) to Manitoba oculotrichoanal syndrome MIM# 248450; Bifid nose with or without anorectal and renal anomalies, MIM# 608980","entity_name":"FREM1","entity_type":"gene"},{"created":"2024-09-04T16:43:54.783328+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.255","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: FREM1 were set to 32016392; 21931569; 21507892; 19732862; 20301721; 28111185; 19732862","entity_name":"FREM1","entity_type":"gene"},{"created":"2024-09-04T16:33:58.418438+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.254","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: FREM1 were set to ","entity_name":"FREM1","entity_type":"gene"},{"created":"2024-09-04T16:33:19.609413+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.192","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP83 as ready","entity_name":"CEP83","entity_type":"gene"},{"created":"2024-09-04T16:33:19.544832+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.192","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep83 has been classified as Red List (Low Evidence).","entity_name":"CEP83","entity_type":"gene"},{"created":"2024-09-04T16:33:13.271508+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.253","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: FTO as ready","entity_name":"FTO","entity_type":"gene"},{"created":"2024-09-04T16:33:13.264611+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.253","user_name":"Lilian Downie","item_type":"entity","text":"Added comment: Comment when marking as ready: Growth retardation, developmental delay, and facial dysmorphism (GDFD) is an autosomal recessive multiple congenital anomaly syndrome characterized by severe psychomotor retardation, poor overall growth, and dysmorphic facial features. Additional features may include cardiac malformations and deafness","entity_name":"FTO","entity_type":"gene"},{"created":"2024-09-04T16:33:13.188449+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.253","user_name":"Lilian Downie","item_type":"entity","text":"Gene: fto has been classified as Green List (High Evidence).","entity_name":"FTO","entity_type":"gene"},{"created":"2024-09-04T16:33:09.920348+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.192","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CEP83 was added\ngene: CEP83 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP83 were set to 39219159\nPhenotypes for gene: CEP83 were set to Nephronophthisis 18, MIM# 615862\nReview for gene: CEP83 was set to RED\nAdded comment: Single individual reported with nephronophthisis and PMG and ID. Compound het variants in CEP83. \nSources: Literature","entity_name":"CEP83","entity_type":"gene"},{"created":"2024-09-04T16:33:06.318309+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.253","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: FTO were set to ","entity_name":"FTO","entity_type":"gene"},{"created":"2024-09-04T16:30:41.702445+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.252","user_name":"Shakira Heerah","item_type":"entity","text":"reviewed gene: KCNJ11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23345197, 32252216, 9356020; Phenotypes: Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KCNJ11","entity_type":"gene"},{"created":"2024-09-04T16:30:06.107006+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.252","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: FTO were changed from Growth retardation, developmental delay, coarse facies, and early death, 612938 (3) to Growth retardation, developmental delay, facial dysmorphism MIM#612938","entity_name":"FTO","entity_type":"gene"},{"created":"2024-09-04T16:28:48.199851+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.251","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: COL17A1 as ready","entity_name":"COL17A1","entity_type":"gene"},{"created":"2024-09-04T16:28:48.185785+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.251","user_name":"Lilian Downie","item_type":"entity","text":"Gene: col17a1 has been classified as Green List (High Evidence).","entity_name":"COL17A1","entity_type":"gene"},{"created":"2024-09-04T16:28:44.825691+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.251","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: COL17A1 were changed from Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) to Epidermolysis bullosa, junctional 4, intermediate, MIM# 619787","entity_name":"COL17A1","entity_type":"gene"},{"created":"2024-09-04T16:27:42.869826+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.250","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: COL17A1 were set to ","entity_name":"COL17A1","entity_type":"gene"},{"created":"2024-09-04T16:27:05.902627+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.249","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: GPC6 as ready","entity_name":"GPC6","entity_type":"gene"},{"created":"2024-09-04T16:27:05.886297+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.249","user_name":"Lilian Downie","item_type":"entity","text":"Gene: gpc6 has been classified as Green List (High Evidence).","entity_name":"GPC6","entity_type":"gene"},{"created":"2024-09-04T16:27:01.783676+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.249","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: GPC6 were set to ","entity_name":"GPC6","entity_type":"gene"},{"created":"2024-09-04T16:20:55.985481+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1974","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: ATP6V1C1: Changed phenotypes: neurodevelopmental disorder MONDO:0700092, ATP6V1C1-related","entity_name":"ATP6V1C1","entity_type":"gene"},{"created":"2024-09-04T16:19:49.271034+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1974","user_name":"Ain Roesley","item_type":"entity","text":"gene: ATP6V1C1 was added\ngene: ATP6V1C1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ATP6V1C1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP6V1C1 were set to 39210597\nReview for gene: ATP6V1C1 was set to AMBER\ngene: ATP6V1C1 was marked as current diagnostic\nAdded comment: 1x de novo missense p.Glu289Lys (absent in v4 gnomad). Manual inspection of IGV found the dad was mosaic 7% VAF and he shared some of the clinical features (minor digit anomalies).\r\n\r\nSome functional studies using patient fibroblasts were performed, demonstrating similar effects as known pathogenic variants in ATP6V1B2.\r\n- lysosomal morphology\r\n- autophagic flux dysregulation\r\n- increased acidification of lysosome\r\n\r\nborderline red/amber \nSources: Literature","entity_name":"ATP6V1C1","entity_type":"gene"},{"created":"2024-09-04T16:00:45.503965+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.248","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: GPC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 19481194 32655339 37353964; Phenotypes: Omodysplasia 1 MIM#258315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GPC6","entity_type":"gene"},{"created":"2024-09-04T15:08:07.257827+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.248","user_name":"Kate Scarff","item_type":"entity","text":"reviewed gene: COL17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301304, 21357940; Phenotypes: Epidermolysis bullosa, junctional 4, intermediate, MIM# 619787; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COL17A1","entity_type":"gene"},{"created":"2024-09-04T14:52:10.381629+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1973","user_name":"Mark Cleghorn","item_type":"entity","text":"gene: REPS2 was added\ngene: REPS2 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: REPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: REPS2 were set to complex neurodevelopmental disorder MONDO:0100038; Cerebral palsy HP:0100021\nPenetrance for gene: REPS2 were set to unknown\nReview for gene: REPS2 was set to AMBER\nAdded comment: REPS2\r\nHao Hu, Guangzhou Women and Children’s MC\r\nESHG talk 1/6/24, unpublished\r\n\r\nProposed X-linked cerebral palsy + NDD gene\r\n\r\n4 unrelated males with predicted deleterious hemizygous REPS2 variants, 2 PTC, 2 missense. 2 de novo, 2 maternally inherited\r\nPhenotypes: 2 w CP + moderate ID/ASD, 2 w NDD NOS\r\nVariants described: \r\nc.1050_1052delGAA;p.K351del\r\nc.1040T>C; p.I347T\r\nc.962C>G; p.S321C\r\nc.1736delA; p.N579Tfs*17\r\n\r\nIn vitro assay of above 4 variants suggest reduced REPS2 protein stability\r\nZebrafish model: REPS2 expressed in neuronal cells, REPS2 knock down have reduced motor activity and abN neuronal morphology\r\nMouse model hemizygous w one of above variants (not specified): reduced performance in cognitive tasks, abnormal neuronal migration pattern on post mortem examination\r\nMechanism may relate to dopamine signalling? \nSources: Other","entity_name":"REPS2","entity_type":"gene"},{"created":"2024-09-04T14:50:37.298480+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6123","user_name":"Mark Cleghorn","item_type":"entity","text":"gene: REPS2 was added\ngene: REPS2 was added to Intellectual disability syndromic and non-syndromic. Sources: Other\nMode of inheritance for gene: REPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: REPS2 were set to complex neurodevelopmental disorder MONDO:0100038; Cerebral palsy HP:0100021\nPenetrance for gene: REPS2 were set to unknown\nReview for gene: REPS2 was set to AMBER\nAdded comment: REPS2\r\nHao Hu, Guangzhou Women and Children’s MC\r\nESHG talk 1/6/24, unpublished\r\n\r\nProposed X-linked cerebral palsy + NDD gene\r\n\r\n4 unrelated males with predicted deleterious hemizygous REPS2 variants, 2 PTC, 2 missense. 2 de novo, 2 maternally inherited\r\nPhenotypes: 2 w CP + moderate ID/ASD, 2 w NDD NOS\r\nVariants described: \r\nc.1050_1052delGAA;p.K351del\r\nc.1040T>C; p.I347T\r\nc.962C>G; p.S321C\r\nc.1736delA; p.N579Tfs*17\r\n\r\nIn vitro assay of above 4 variants suggest reduced REPS2 protein stability\r\nZebrafish model: REPS2 expressed in neuronal cells, REPS2 knock down have reduced motor activity and abN neuronal morphology\r\nMouse model hemizygous w one of above variants (not specified): reduced performance in cognitive tasks, abnormal neuronal migration pattern on post mortem examination\r\nMechanism may relate to dopamine signalling? \nSources: Other","entity_name":"REPS2","entity_type":"gene"},{"created":"2024-09-04T14:47:52.455710+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Mark Cleghorn","item_type":"entity","text":"gene: REPS2 was added\ngene: REPS2 was added to Cerebral Palsy. Sources: Other\nMode of inheritance for gene: REPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: REPS2 were set to complex neurodevelopmental disorder MONDO:0100038; Cerebral palsy HP:0100021\nPenetrance for gene: REPS2 were set to unknown\nReview for gene: REPS2 was set to AMBER\nAdded comment: REPS2\r\nHao Hu, Guangzhou Women and Children’s MC\r\nESHG talk 1/6/24, unpublished\r\n\r\nProposed X-linked cerebral palsy + NDD gene\r\n\r\n4 unrelated males with predicted deleterious hemizygous REPS2 variants, 2 PTC, 2 missense. 2 de novo, 2 maternally inherited\r\nPhenotypes: 2 w CP + moderate ID/ASD, 2 w NDD NOS\r\nVariants described: \r\nc.1050_1052delGAA;p.K351del\r\nc.1040T>C; p.I347T\r\nc.962C>G; p.S321C\r\nc.1736delA; p.N579Tfs*17\r\n\r\nIn vitro assay of above 4 variants suggest reduced REPS2 protein stability\r\nZebrafish model: REPS2 expressed in neuronal cells, REPS2 knock down have reduced motor activity and abN neuronal morphology\r\nMouse model hemizygous w one of above variants (not specified): reduced performance in cognitive tasks, abnormal neuronal migration pattern on post mortem examination\r\nMechanism may relate to dopamine signalling? \nSources: Other","entity_name":"REPS2","entity_type":"gene"},{"created":"2024-09-04T12:25:10.050915+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1973","user_name":"Mark Cleghorn","item_type":"entity","text":"gene: TTL was added\ngene: TTL was added to Mendeliome. Sources: Other\nMode of inheritance for gene: TTL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTL were set to complex neurodevelopmental disorderMONDO:0100038\nAdded comment: TTL\r\nValentina Serpieri, University of Pavia\r\nESHG talk 1/6/24\r\n\r\nFAM1 (Italy)\r\n2 affected sisters born to consanguineous Pakistani parents\r\nGDD, spastic tetraparesis, optic atrophy, brain anomalies resembling tubulinopathies (dysplasia of corpus callosum, basal ganglia, brainstem)\r\nWES: homozygous TTL:c.1013G>A; p.Cys338Tyr in both affected sisters\r\n\r\nVia genematcher\r\n5 more families (9 individuals) w similar phenotypes and biallelic variants in TTL\r\n\r\nFAM2 (Egypt): homozygous p.Arg46Pro\r\nFAM3 (Egypt): homozygous p.Arg46Pro\r\nFAM4 (Australia): homozygous p.Gln183Arg\r\nFAM5 (France): homozygous p.Trp147*\r\nFAM6 (Saudi Arabia): homozygous p.His243Tyr\r\n\r\nTTL KO mice: death soon after birth, no overt malformations, but defects in organisation of cerebral layers\r\n\r\nFunctional work on patient fibroblasts\r\nFAM1 – reduced quantity of TTL protein compared to control on Western blot, decreased function of TTL protein (increase in detyrosinated tubulin) compared to controls – infer LoF as mechanism\r\nFAM3 – mentioned but no details\r\nFAM4– mentioned but no details \nSources: Other","entity_name":"TTL","entity_type":"gene"},{"created":"2024-09-04T12:24:06.145260+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6123","user_name":"Mark Cleghorn","item_type":"entity","text":"gene: TTL was added\ngene: TTL was added to Intellectual disability syndromic and non-syndromic. Sources: Other\nMode of inheritance for gene: TTL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTL were set to complex neurodevelopmental disorder MONDO:0100038\nReview for gene: TTL was set to AMBER\nAdded comment: TTL\r\nValentina Serpieri, University of Pavia\r\nESHG talk 1/6/24\r\n\r\nFAM1 (Italy)\r\n2 affected sisters born to consanguineous Pakistani parents\r\nGDD, spastic tetraparesis, optic atrophy, brain anomalies resembling tubulinopathies (dysplasia of corpus callosum, basal ganglia, brainstem)\r\nWES: homozygous TTL:c.1013G>A; p.Cys338Tyr in both affected sisters\r\n\r\nVia genematcher\r\n5 more families (9 individuals) w similar phenotypes and biallelic variants in TTL\r\n\r\nFAM2 (Egypt): homozygous p.Arg46Pro\r\nFAM3 (Egypt): homozygous p.Arg46Pro\r\nFAM4 (Australia): homozygous p.Gln183Arg\r\nFAM5 (France): homozygous p.Trp147*\r\nFAM6 (Saudi Arabia): homozygous p.His243Tyr\r\n\r\nTTL KO mice: death soon after birth, no overt malformations, but defects in organisation of cerebral layers\r\n\r\nFunctional work on patient fibroblasts\r\nFAM1 – reduced quantity of TTL protein compared to control on Western blot, decreased function of TTL protein (increase in detyrosinated tubulin) compared to controls – infer LoF as mechanism\r\nFAM3 – mentioned but no details\r\nFAM4– mentioned but no details \nSources: Other","entity_name":"TTL","entity_type":"gene"},{"created":"2024-09-04T12:22:12.722496+10:00","panel_name":"Tubulinopathies","panel_id":21,"panel_version":"1.1","user_name":"Mark Cleghorn","item_type":"entity","text":"gene: TTL was added\ngene: TTL was added to Tubulinopathies. Sources: Other\nMode of inheritance for gene: TTL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTL were set to complex neurodevelopmental disorder MONDO:0100038\nPenetrance for gene: TTL were set to unknown\nReview for gene: TTL was set to AMBER\nAdded comment: TTL\r\nValentina Serpieri, University of Pavia\r\nESHG talk 1/6/24\r\n\r\nFAM1 (Italy)\r\n2 affected sisters born to consanguineous Pakistani parents\r\nGDD, spastic tetraparesis, optic atrophy, brain anomalies resembling tubulinopathies (dysplasia of corpus callosum, basal ganglia, brainstem)\r\nWES: homozygous TTL:c.1013G>A; p.Cys338Tyr in both affected sisters\r\n\r\nVia genematcher\r\n5 more families (9 individuals) w similar phenotypes and biallelic variants in TTL\r\n\r\nFAM2 (Egypt): homozygous p.Arg46Pro\r\nFAM3 (Egypt): homozygous p.Arg46Pro\r\nFAM4 (Australia): homozygous p.Gln183Arg\r\nFAM5 (France): homozygous p.Trp147*\r\nFAM6 (Saudi Arabia): homozygous p.His243Tyr\r\n\r\nTTL KO mice: death soon after birth, no overt malformations, but defects in organisation of cerebral layers\r\n\r\nFunctional work on patient fibroblasts\r\nFAM1 – reduced quantity of TTL protein compared to control on Western blot, decreased function of TTL protein (increase in detyrosinated tubulin) compared to controls – infer LoF as mechanism\r\nFAM3 – mentioned but no details\r\nFAM4– mentioned but no details \nSources: Other","entity_name":"TTL","entity_type":"gene"},{"created":"2024-09-04T12:20:35.180597+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.248","user_name":"Marta Cifuentes Ochoa","item_type":"entity","text":"reviewed gene: FTO: Rating: GREEN; Mode of pathogenicity: None; Publications: 19234441, 19559399, 26378117, 26697951, 26378117, 26740239; Phenotypes: Growth retardation, developmental delay, facial dysmorphism MIM#612938, lethal polymalformative syndrome, Boissel type MONDO:0013050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FTO","entity_type":"gene"},{"created":"2024-09-04T11:53:42.348972+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.248","user_name":"Marta Cifuentes Ochoa","item_type":"entity","text":"reviewed gene: FREM1: Rating: ; Mode of pathogenicity: None; Publications: 32016392, 21931569, 21507892, 19732862, 20301721, 28111185, 19732862; Phenotypes: Manitoba oculotrichoanal syndrome MIM# 248450, Bifid nose with or without anorectal and renal anomalies, MIM# 608980, oculotrichoanal syndrome MONDO:0009560, BNAR syndrome MONDO:0012165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FREM1","entity_type":"gene"},{"created":"2024-09-04T11:39:03.249770+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.248","user_name":"Marta Cifuentes Ochoa","item_type":"entity","text":"changed review comment from: Prothrombin deficiency type I, known as true prothrombin deficiency or 'hypoprothrombinemia,' is defined as plasma levels of prothrombin being less than 10% of normal with a concomitant decrease in activity. These patients have severe bleeding from birth, including umbilical cord hemorrhage, hematomas, ecchymoses, hematuria, mucosal bleeding, hemarthroses, intracranial bleeding, gastrointestinal bleeding, and menorrhagia. \r\n\r\nHGNC approved symbol/name: F2\r\nIs the phenotype(s) severe and onset <18yo ?  Y \r\nKnown technical challenges? N\r\nGene reported in >3 independent families \r\n \r\nType II deficiency, known as 'dysprothrombinemia,' is characterized by normal or low-normal synthesis of a dysfunctional protein; to: Prothrombin deficiency type I, known as true prothrombin deficiency or 'hypoprothrombinemia,' is defined as plasma levels of prothrombin being less than 10% of normal with a concomitant decrease in activity. These patients have severe bleeding from birth, including umbilical cord hemorrhage, hematomas, ecchymoses, hematuria, mucosal bleeding, hemarthroses, intracranial bleeding, gastrointestinal bleeding, and menorrhagia. \r\n\r\nHGNC approved symbol/name: F2\r\nIs the phenotype(s) severe and onset <18yo ?  Y \r\nKnown technical challenges? N\r\nGene reported in >3 independent families \r\n \r\nType II deficiency, known as 'dysprothrombinemia,' is characterized by normal or low-normal synthesis of a dysfunctional protein\r\n\r\nAD forms and multifactorial conditions described for this gene not reportable in screening context","entity_name":"F2","entity_type":"gene"},{"created":"2024-09-04T11:34:55.245110+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.248","user_name":"Marta Cifuentes Ochoa","item_type":"entity","text":"reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 9771710 9931343 11175283 12019207 12560877 14722920, 30947044, 22036712, 16311711, 28818698; Phenotypes: Myoclonic epilepsy of Lafora 1 MIM#254780, MONDO:0958199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EPM2A","entity_type":"gene"},{"created":"2024-09-04T11:32:40.040789+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.248","user_name":"Marta Cifuentes Ochoa","item_type":"entity","text":"reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23852823; Phenotypes: Hypoprothrombinemia MIM# 613679, congenital prothrombin deficiency MONDO:0013361; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"F2","entity_type":"gene"},{"created":"2024-09-04T09:44:24.305813+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.248","user_name":"Marta Cifuentes Ochoa","item_type":"entity","text":"reviewed gene: CBS: Rating: AMBER; Mode of pathogenicity: None; Publications: 7506602, 10338090, 7967489, 27778219; Phenotypes: Homocystinuria, B6-responsive and nonresponsive types, Thrombosis, hyperhomocysteinemic MIM#236200, classic homocystinuria, MONDO:0009352; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CBS","entity_type":"gene"},{"created":"2024-09-03T21:55:24.626329+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.248","user_name":"Andrew Coventry","item_type":"entity","text":"changed review comment from: Nonaka myopathy - Well established gene disease relationship. However, age of onset of myopathy reported to usually occur between age 20 and 40. Marginal for childhood onset condition. \r\n\r\nThrombocytopenia - well reported association of affected individuals experiencing bleeding episodes that commence from neonatal to early childhood. Myopathy variably reported in those affected - possibly due to young age of individuals presenting with bleeding symptoms. Myopathy, when reported, occurs at similar age of onset to Nonaka. Publication (25257349) indicates myopathy onset in affected sibs at mid-late teens. Also reported renal complications at age 7. Mouse model for GNE knockout shows renal involvement (PMID: 17549255). Condition reported to have caused cerebral haemorrhages in neonatal period (PMID:29941673). Unsure if phenotypic variability of condition, and isolated bleeding phenotype (as in ClinGen) suitable or adequate for screening context.; to: Nonaka myopathy - Well established gene disease relationship. However, age of onset of myopathy reported to usually occur between age 20 and 40. Myopathy then progresses, usually over ~10 year period to then require wheelchair assistance for mobility. Severe condition but onset is marginal for childhood onset screening context.\r\n\r\nThrombocytopenia - well reported association of affected individuals experiencing bleeding episodes that commence from neonatal to early childhood. Myopathy variably reported in those affected - possibly due to young age of individuals presenting with bleeding symptoms. Myopathy, when reported, occurs at similar age of onset to Nonaka. Publication (25257349) indicates myopathy onset in affected sibs at mid-late teens. Also reported renal complications at age 7. Mouse model for GNE knockout shows renal involvement (PMID: 17549255). Condition reported to have caused cerebral haemorrhages in neonatal period (PMID:29941673). Unsure if phenotypic variability of condition, and isolated bleeding phenotype (as in ClinGen) suitable or adequate for screening context.","entity_name":"GNE","entity_type":"gene"},{"created":"2024-09-03T21:50:31.834832+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.248","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: GNE: Rating: AMBER; Mode of pathogenicity: None; Publications: 25257349 17549255 25061177 30171045 29941673; Phenotypes: Nonaka myopathy MIM#605820, Thrombocytopenia 12 with or without myopathy MIM#620757; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNE","entity_type":"gene"},{"created":"2024-09-03T20:26:51.084175+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.248","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: GNAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32203983 17251445 15557429 23580486 31058429 12077706 12205108 27718025 21107338 28041643; Phenotypes: Achromatopsia 4 MIM#613856; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNAT2","entity_type":"gene"},{"created":"2024-09-03T14:41:02.622036+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"gene: TBCK was added\ngene: TBCK was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: TBCK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBCK were set to PMID: 39213953\nPhenotypes for gene: TBCK were set to Hypotonia, infantiale with psychomotor retardation and characteristic facies 3, MIM#616900\nReview for gene: TBCK was set to RED\nAdded comment: Single individual with biallelic variants in TBCK reported in a monocentric cohort study (PMID: 39213953). Clinically, hypotonic CP, DD, muscle weakness, hyperlaxicity, epilepsy. \nSources: Literature","entity_name":"TBCK","entity_type":"gene"},{"created":"2024-09-03T14:37:33.905298+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"gene: TBCD was added\ngene: TBCD was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBCD were set to PMID: 39213953\nPhenotypes for gene: TBCD were set to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum MIM#617193\nReview for gene: TBCD was set to RED\nAdded comment: Single individual with homozygous missense variant reported in a monocentric cohort study (PMID: 39213953). Clinically, spastic quadriplegia, DD, ID, regression, focal epilepsy, cerebral atrophy, atrophy corpus callosum and brainstem. Initially diagnosed with CP. \nSources: Literature","entity_name":"TBCD","entity_type":"gene"},{"created":"2024-09-03T14:31:47.321659+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"gene: RTN4IP1 was added\ngene: RTN4IP1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RTN4IP1 were set to PMID: 39213953\nPhenotypes for gene: RTN4IP1 were set to Optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures, MIM#616732\nReview for gene: RTN4IP1 was set to RED\nAdded comment: Single individual with biallelic variants in RTN4IP1 reported in a monocentric cohort study (PMID: 39213953). Clinically, ataxia, axial hypotonia, DD, epilepsy, nystagmus, opticus neuropathy, dysmorphic features. \nSources: Literature","entity_name":"RTN4IP1","entity_type":"gene"},{"created":"2024-09-03T13:55:35.545139+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"gene: COQ4 was added\ngene: COQ4 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COQ4 were set to PMID: 39213953\nPhenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, MIM#616276; Spastic ataxia 10, autosomal recessive, MIM#620666\nReview for gene: COQ4 was set to RED\nAdded comment: Two individuals with homozygous p.Thr77Ile variant reported in a monocentric cohort study (PMID: 39213953), both with spastic diplegia, DD but one also with hearing loss. \nSources: Literature","entity_name":"COQ4","entity_type":"gene"},{"created":"2024-09-03T13:47:41.548936+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"gene: RNU7-1 was added\ngene: RNU7-1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNU7-1 were set to PMID: 39213953\nPhenotypes for gene: RNU7-1 were set to Aicardi-Goutières syndrome 9, MIM#619487\nReview for gene: RNU7-1 was set to AMBER\nAdded comment: Two individuals with biallelic LP/P variants in RNU7-1 reported in a monocentric cohort study (PMID: 39213953). Both have recurrent RNU7-1 40_47DEL. \r\n\r\nOne with spastic quadriplegia, epilepsy, DD, hypomyelination, cerebral atrophy, old ishemic lesions, calcifications on CT. \r\n\r\nOther with peripheral hypertonia, axial hypotonia, dystonia, calcifications, PVL, delayed myelination. \nSources: Literature","entity_name":"RNU7-1","entity_type":"gene"},{"created":"2024-09-03T13:34:19.266441+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"edited their review of gene: KMT2D: Added comment: Additional individual with de novo splice variant reported in a monocentric cohort study (PMID: 39213953). Clinically, hypotonia, DD, ASD, dysmorphic features. No functional assessment of variant impact.; Changed publications: PMID: 38693247, PMID: 39213953","entity_name":"KMT2D","entity_type":"gene"},{"created":"2024-09-03T13:30:53.967583+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"gene: CLN6 was added\ngene: CLN6 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLN6 were set to PMID: 39213953\nPhenotypes for gene: CLN6 were set to Neuronal Ceroid Lipofuscinosis 6, MIM#601780\nReview for gene: CLN6 was set to RED\nAdded comment: Single individual with compound heterozygous LP/P variants in CLN6 reported in a monocentric cohort study (PMID: 39213953). Patient reported to have progressive dystonia, developmental regression, DD, ID, with initial diagnosis of CP. \nSources: Literature","entity_name":"CLN6","entity_type":"gene"},{"created":"2024-09-03T12:58:43.921136+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"gene: SMG8 was added\ngene: SMG8 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMG8 were set to PMID: 39213953\nPhenotypes for gene: SMG8 were set to Alzahrani-Kuwahara syndrome, MIM#619268\nReview for gene: SMG8 was set to RED\nAdded comment: Single individual with biallelic variants in SMG8 reported in a monocentric CP cohort study (PMID: 39213953). Clinically, spastic CP with DD, ID, peripheral hypertonia, dysmorphic features. \nSources: Literature","entity_name":"SMG8","entity_type":"gene"},{"created":"2024-09-03T11:07:58.204972+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.248","user_name":"Shakira Heerah","item_type":"entity","text":"reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: 17224688, 29649853, 26937390, 20301469; Phenotypes: Fabry disease, 301500, (3); 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":"GLA","entity_type":"gene"},{"created":"2024-09-03T10:25:34.220553+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.248","user_name":"Shakira Heerah","item_type":"entity","text":"reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 29376519, 31044565, 30792206, 28717661; Phenotypes: Fanconi anemia, complementation group C, 227645 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FANCC","entity_type":"gene"},{"created":"2024-09-02T17:40:53.530903+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"edited their review of gene: CHD3: Added comment: Additional individual with de novo missense variant reported in a monocentric cohort study (PMID: 39213953). Clinically, ataxic CP, DD, ID, bilateral widened frontal subarachnoid space.; Changed publications: PMID: 38168508, PMID: 39213953","entity_name":"CHD3","entity_type":"gene"},{"created":"2024-09-02T17:37:30.754938+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"gene: TSEN54 was added\ngene: TSEN54 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TSEN54 were set to PMID: 39213953\nPhenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia type 2, MIM#277470\nReview for gene: TSEN54 was set to RED\nAdded comment: Two individuals with recurrent homozygous variant reported in a monocentric cohort study (PMID: 39213953). Not clear if they are related. \r\n\r\nOne with spastic CP, DD, epilepsy, feeding difficulties, behavioral problems, vision problems, pontocerebellar atrophy. Other with spastic CP and axial hypotonia, peripheral hypertonia, DD, ID, cortical visual impairment, pontocerebellar atrophy. \nSources: Literature","entity_name":"TSEN54","entity_type":"gene"},{"created":"2024-09-02T17:30:36.077023+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"gene: KCNK9 was added\ngene: KCNK9 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: KCNK9 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPublications for gene: KCNK9 were set to PMID: 39213953\nPhenotypes for gene: KCNK9 were set to Birk-Barel syndrome (KCNK9 imprinting syndrome), MIM#612292\nReview for gene: KCNK9 was set to RED\nAdded comment: Single individual with de novo missense variant reported in a monocentric cohort study (PMID: 39213953). Clinically, hypotonic CP, hyperlaxicity, DD, ID. \nSources: Literature","entity_name":"KCNK9","entity_type":"gene"},{"created":"2024-09-02T17:28:03.695945+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.248","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: GDF5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33333243 20683927 33872773; Phenotypes: Acromesomelic dysplasia 2A MIM#200700, Acromesomelic dysplasia 2B MIM#228900, Brachydactyly, type A1, C MIM#615072; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GDF5","entity_type":"gene"},{"created":"2024-09-02T17:25:52.330278+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"gene: PIK3CA was added\ngene: PIK3CA was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PIK3CA were set to PMID: 39213953\nPhenotypes for gene: PIK3CA were set to Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501\nReview for gene: PIK3CA was set to RED\nAdded comment: Single individual with novel de novo in-frame deletion reported in a monocentric cohort study (PMID: 39213953). Clinically hypotonia, hyperlaxity, bilateral polymicrogyria, incomplete inversion hippocampi, prominent cerebellum. \nSources: Literature","entity_name":"PIK3CA","entity_type":"gene"},{"created":"2024-09-02T17:17:38.474366+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"changed review comment from: An additional individual reported with CP and a homozygous frameshift variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.; to: An additional individual reported with CP and a homozygous frameshift variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.\r\n\r\nSingle individual with homozygous splice variant reported in a monocentric cohort study (PMID: 39213953). Clinically, spastic CP with hypertonia, DD, ID, corpus callosum hypoplasia, hyperintensities in the deep white matter. ","entity_name":"ERCC8","entity_type":"gene"},{"created":"2024-09-02T17:08:54.711949+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"gene: ALDH7A1 was added\ngene: ALDH7A1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDH7A1 were set to PMID: 39213953\nPhenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent, MIM#266100\nReview for gene: ALDH7A1 was set to RED\nAdded comment: Single individual with compound heterozygous varianta reported in a monocentric cohort study (PMID: 39213953). Clinically, spastic CP with mild hypertonia, ASD, ADHD, epilepsy not reported. Movement disorders, including CP in one case, are reported in one study of young adults with PDE-ALDH7A1 (PMID: 35782612). \nSources: Literature","entity_name":"ALDH7A1","entity_type":"gene"},{"created":"2024-09-02T17:03:18.143401+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"gene: BRAF was added\ngene: BRAF was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BRAF were set to PMID: 39213953\nPhenotypes for gene: BRAF were set to Cardiofaciocutaneous syndrome, MIM#115150\nReview for gene: BRAF was set to AMBER\nAdded comment: Two individuals each with a de novo missense variant reported in a monocentric cohort study (PMID: 39213953). \r\n\r\nOne with spastic CP with spasticity, hypertonia, ASD, PFO, mild pulmonary artery stenosis, failure to thrive, nystagmus, dysmorphic features. \r\n\r\nThe other with hypotonic CP with axial and peripheral hypotonia, DD, ID, mild pulmonary artery stenosis, dysmorphic features, hypothyroidism, small subacute subdural bleeding, small intraventricular haemorrhage, small cerebellum. \nSources: Literature","entity_name":"BRAF","entity_type":"gene"},{"created":"2024-09-02T16:57:56.934062+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"gene: TRIT1 was added\ngene: TRIT1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: TRIT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRIT1 were set to PMID: 39213953\nPhenotypes for gene: TRIT1 were set to Combined oxidative phosphorylation deficiency 35, MIM#617873\nReview for gene: TRIT1 was set to RED\nAdded comment: Single individual with compound heterozygous variants (nonsense and missense) reported in a monocentric cohort study (PMID: 39213953). Clinically axial hypotonia, peripheral hypertonia, microcephaly, spastic CP, widened ventricular system, widened subarachnoid space. \nSources: Literature","entity_name":"TRIT1","entity_type":"gene"},{"created":"2024-09-02T16:54:41.586160+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.248","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: FKTN: Rating: ; Mode of pathogenicity: None; Publications: 9690476 19017726 20301385 28680109 17036286; Phenotypes: Muscular dystrophy-dystroglycanopathy MONDO:0018276, Cardiomyopathy, dilated, 1X MIM#611615; Mode of inheritance: None","entity_name":"FKTN","entity_type":"gene"},{"created":"2024-09-02T16:51:41.766726+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"gene: KIF5C was added\ngene: KIF5C was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: KIF5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF5C were set to PMID: 39213953\nPhenotypes for gene: KIF5C were set to Cortical dysplasia, complex, with other brain malformations 2 MIM#615282\nReview for gene: KIF5C was set to RED\nAdded comment: Single individual with de novo missense variant reported in a monocentric cohort study (PMID: 39213953). Clinically spastic diplegia, DD, severe ID, epilepsy, polymicrogyria. \nSources: Literature","entity_name":"KIF5C","entity_type":"gene"},{"created":"2024-09-02T16:46:46.500230+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"gene: KIAA1109 was added\ngene: KIAA1109 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA1109 were set to PMID: 39213953\nPhenotypes for gene: KIAA1109 were set to Alkuraya-Kucinskas syndrome, MIM#617822\nReview for gene: KIAA1109 was set to RED\nAdded comment: Single individual with compound heterozygous variants (1 nonsense, 1 missense) reported in a monocentric cohort study (PMID: 39213953). Clinically West syndrome with evolution to Lennox-Gastaut, severe DD, ID, vision problems, microcephaly, feeding difficulties, spasticity, corpus callosum hypoplasia, cerebral atrophy, heterotopia. \nSources: Literature","entity_name":"KIAA1109","entity_type":"gene"},{"created":"2024-09-02T16:42:24.157295+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"edited their review of gene: CYFIP2: Added comment: Additional individual with de novo missense variant in CYFIP2 reported in a monocentric cohort study (PMID: 39213953). Clinically ID, spastic quadriplegia, ASD.; Changed rating: AMBER; Changed publications: PMID: 38843839, PMID: 39213953","entity_name":"CYFIP2","entity_type":"gene"},{"created":"2024-09-02T16:40:35.950241+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.248","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: FAT4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29681106 24913602 24056717 22473091; Phenotypes: Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006, Van Maldergem syndrome 2 MIM#615546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FAT4","entity_type":"gene"},{"created":"2024-09-02T16:39:58.180856+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"edited their review of gene: CLCN4: Added comment: Additional hemizygous male (de novo missense mutation) in monocentric cohort study (PMID: 39213953). Clinically spastic quadriplegia, epilepsy, osteoporosis, cerebral atrophy, corpus callosum hypoplasia.; Changed publications: PMID: 38693247, PMID: 37789889, PMID: 39213953","entity_name":"CLCN4","entity_type":"gene"},{"created":"2024-09-02T16:35:17.412110+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"gene: TRIO was added\ngene: TRIO was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: TRIO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRIO were set to PMID: 39213953\nPhenotypes for gene: TRIO were set to Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061\nReview for gene: TRIO was set to RED\nAdded comment: Single individual with de novo missense variant in TRIO reported in a monocentric cohort study (PMID: 39213953). Clinically spastic quadriplegia, microcephaly, cortical visual impairment, Lennox Gastaut epilepsy, cerebral atrophy, megacisterna magna, aberrant skull morphology. \nSources: Literature","entity_name":"TRIO","entity_type":"gene"},{"created":"2024-09-02T16:29:20.016696+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"gene: EBF3 was added\ngene: EBF3 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: EBF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EBF3 were set to PMID: 39213953\nPhenotypes for gene: EBF3 were set to Hypotonia, ataxia and delayed development syndrome MIM#617330\nReview for gene: EBF3 was set to RED\nAdded comment: Single individual with de novo missense variant in EBF3 reported in a monocentric cohort study (PMID: 39213953). Clinically DD, ataxia, dysarthria, strabism, cortical visual impairment. \nSources: Literature","entity_name":"EBF3","entity_type":"gene"},{"created":"2024-09-02T16:23:50.532799+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"gene: ZMYND11 was added\ngene: ZMYND11 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ZMYND11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZMYND11 were set to PMID: 39213953\nPhenotypes for gene: ZMYND11 were set to Intellectual developmental disorder 30, MIM#616083\nReview for gene: ZMYND11 was set to RED\nAdded comment: Single individual with novel de novo missense variant and dyskinetic CP with ID, dystonia, peripheral hypertonia and delayed myelination. \nSources: Literature","entity_name":"ZMYND11","entity_type":"gene"},{"created":"2024-09-02T16:21:48.817068+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.248","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: F5: Rating: AMBER; Mode of pathogenicity: None; Publications: 35593819 31121608; Phenotypes: Factor V deficiency MIM#227400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"F5","entity_type":"gene"},{"created":"2024-09-02T16:16:45.189301+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"gene: PGAP2 was added\ngene: PGAP2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PGAP2 were set to PMID: 39213953\nPhenotypes for gene: PGAP2 were set to Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207\nReview for gene: PGAP2 was set to RED\nAdded comment: Single individual with homozygous missense variant and severe DD, epilepsy, axial hypotonia, dyskinetic quadriplegia, feeding difficulties. \nSources: Literature","entity_name":"PGAP2","entity_type":"gene"},{"created":"2024-09-02T16:12:56.425265+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"gene: PUM1 was added\ngene: PUM1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: PUM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PUM1 were set to PMID: 39213953\nPhenotypes for gene: PUM1 were set to Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM#620719; Spinocerebellar ataxia 47, MIM#617931\nReview for gene: PUM1 was set to RED\nAdded comment: Single individual with de novo missense variant in PUM1 reported in a monocentric cohort study (PMID: 39213953). Reported with spastic CP, severe DD, epilepsy, microcephaly, cerebral atrophy, thin corpus callosum. \nSources: Literature","entity_name":"PUM1","entity_type":"gene"},{"created":"2024-09-02T16:01:32.997703+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"gene: IREB2 was added\ngene: IREB2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: IREB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IREB2 were set to PMID: 39213953\nPhenotypes for gene: IREB2 were set to Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451\nReview for gene: IREB2 was set to RED\nAdded comment: Single individual with compound heterozygous LP/P variants in IREB2 and hypotonic quadriplegia, severe DD, microcytic anemia, elevated ferritin, retinal dystrophy. \nSources: Literature","entity_name":"IREB2","entity_type":"gene"},{"created":"2024-09-02T15:57:04.122274+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"reviewed gene: FRRS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 33528536, 27236917, 39213953; Phenotypes: Developmental and epileptic encephalopathy MIM#616981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FRRS1L","entity_type":"gene"},{"created":"2024-09-02T15:51:50.012506+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.248","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: EVC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23220543 10700184 33050204; Phenotypes: Ellis-van Creveld syndrome MIM#225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EVC2","entity_type":"gene"},{"created":"2024-09-02T15:43:41.594703+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.248","user_name":"Shakira Heerah","item_type":"entity","text":"reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35338537, 38585583, 23453667, 33290285, 29791932, 29273094, 28688748, 28303321; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11, 615181 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"B3GALNT2","entity_type":"gene"},{"created":"2024-09-02T15:42:50.442421+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.248","user_name":"Shakira Heerah","item_type":"entity","text":"Deleted their review","entity_name":"B3GALNT2","entity_type":"gene"},{"created":"2024-09-02T15:42:26.726462+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.248","user_name":"Shakira Heerah","item_type":"entity","text":"reviewed gene: B3GALNT2: Rating: ; Mode of pathogenicity: None; Publications: 35338537, 38585583, 23453667, 33290285, 29791932, 29273094, 28688748, 28303321; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11, 615181 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"B3GALNT2","entity_type":"gene"},{"created":"2024-09-02T15:38:11.418400+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.248","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: ERBB3: Rating: AMBER; Mode of pathogenicity: None; Publications: 17701904 31752936 33497358 12548738 38009810; Phenotypes: Visceral neuropathy, familial, 1, autosomal recessive MIM#243180, Lethal congenital contractural syndrome 2 MIM#607598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERBB3","entity_type":"gene"},{"created":"2024-09-02T14:46:09.307496+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.248","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11835386 12707859 18263758 25843247 25761052 30014503 39139316; Phenotypes: Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure MIM#620314; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EIF2B4","entity_type":"gene"},{"created":"2024-09-02T10:51:49.525465+10:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.23","user_name":"Ain Roesley","item_type":"entity","text":"gene: GPC3 was added\ngene: GPC3 was added to Hyperinsulinism. Sources: Literature\nMode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: GPC3 were set to 20301398\nPhenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome, type 1\tMIM#312870\nReview for gene: GPC3 was set to RED\ngene: GPC3 was marked as current diagnostic\nAdded comment: from genereviews:\r\n\r\nhypoglycemia may be present in the neonatal period; however, hypoglycemia is rare in SGBS1 and is not considered to be a cardinal feature. \nSources: Literature","entity_name":"GPC3","entity_type":"gene"},{"created":"2024-09-02T10:17:28.768542+10:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.22","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: AKT2 as Red List (low evidence)","entity_name":"AKT2","entity_type":"gene"},{"created":"2024-09-02T10:17:28.734169+10:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.22","user_name":"Ain Roesley","item_type":"entity","text":"Gene: akt2 has been classified as Red List (Low Evidence).","entity_name":"AKT2","entity_type":"gene"},{"created":"2024-09-02T10:16:52.285941+10:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.21","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: AKT2: Changed rating: RED","entity_name":"AKT2","entity_type":"gene"},{"created":"2024-09-02T09:59:30.402289+10:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.21","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: AKT2 as Amber List (moderate evidence)","entity_name":"AKT2","entity_type":"gene"},{"created":"2024-09-02T09:59:30.385791+10:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.21","user_name":"Ain Roesley","item_type":"entity","text":"Gene: akt2 has been classified as Amber List (Moderate Evidence).","entity_name":"AKT2","entity_type":"gene"},{"created":"2024-09-02T09:59:06.476550+10:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.21","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: AKT2 as Amber List (moderate evidence)","entity_name":"AKT2","entity_type":"gene"},{"created":"2024-09-02T09:59:06.455386+10:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.21","user_name":"Ain Roesley","item_type":"entity","text":"Gene: akt2 has been classified as Amber List (Moderate Evidence).","entity_name":"AKT2","entity_type":"gene"},{"created":"2024-09-02T09:58:35.400486+10:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.20","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: AKT2: Changed rating: AMBER; Changed phenotypes: Diabetes mellitus, type II MIM#125853, Hypoinsulinemic hypoglycemia with hemihypertrophy MIM#240900","entity_name":"AKT2","entity_type":"gene"},{"created":"2024-09-02T09:58:30.125884+10:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.20","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: at least 5x individuals with hypoglycemia and de novo missense\r\n\r\nGlu17Lys is a hotspot and GoF as a mechanism of disease \nSources: Literature; to: at least 5x individuals with hypoglycemia and de novo missense\r\n\r\nGlu17Lys is a hotspot and GoF as a mechanism of disease \r\n\r\nHowever, undetectable levels of serum insulin and C-peptide\r\n\r\nSources: Literature","entity_name":"AKT2","entity_type":"gene"},{"created":"2024-09-02T09:55:15.243158+10:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.20","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: AKT2 as Green List (high evidence)","entity_name":"AKT2","entity_type":"gene"},{"created":"2024-09-02T09:55:15.225796+10:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.20","user_name":"Ain Roesley","item_type":"entity","text":"Gene: akt2 has been classified as Green List (High Evidence).","entity_name":"AKT2","entity_type":"gene"},{"created":"2024-09-02T09:54:39.903178+10:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.19","user_name":"Ain Roesley","item_type":"entity","text":"gene: AKT2 was added\ngene: AKT2 was added to Hyperinsulinism. Sources: Literature\nMode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AKT2 were set to 21979934; 35602880; 24285683\nPhenotypes for gene: AKT2 were set to Diabetes mellitus, type II\tMIM#125853; Hypoinsulinemic hypoglycemia with hemihypertrophy\tMIM#240900\nReview for gene: AKT2 was set to GREEN\ngene: AKT2 was marked as current diagnostic\nAdded comment: at least 5x individuals with hypoglycemia and de novo missense\r\n\r\nGlu17Lys is a hotspot and GoF as a mechanism of disease \nSources: Literature","entity_name":"AKT2","entity_type":"gene"},{"created":"2024-08-31T17:04:24.538190+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1973","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PLEKHM2 as ready","entity_name":"PLEKHM2","entity_type":"gene"}]}