{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=213","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=211","results":[{"created":"2025-06-09T19:42:55.489746+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2637","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARF1 were changed from Periventricular nodular heterotopia 8, MIM#\t618185 to Periventricular nodular heterotopia 8, MIM# 618185; Type 1 interferrinopathy of childhood, MONDO:0957408, ARF1 related","entity_name":"ARF1","entity_type":"gene"},{"created":"2025-06-09T19:42:36.825197+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2636","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARF1 were set to 28868155; 34353862; 36345169","entity_name":"ARF1","entity_type":"gene"},{"created":"2025-06-09T19:41:37.664921+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2635","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARF1 were set to 28868155; 34353862; 36345169","entity_name":"ARF1","entity_type":"gene"},{"created":"2025-06-09T19:41:08.975360+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2634","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Three unrelated individuals reported with de novo missense in this gene. \nSources: Expert list; to: Three unrelated individuals reported with de novo missense in this gene and PVNH.\r\nSources: Expert list","entity_name":"ARF1","entity_type":"gene"},{"created":"2025-06-09T19:40:44.348757+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2634","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ARF1: Added comment: PMID 37914730: Three individuals presenting with skin lesions resembling chilblains reported with missense changes at the same amino acid position, R99. Two demonstrated to be de novo. Extensive functional data.; Changed publications: 28868155, 37914730; Changed phenotypes: Periventricular nodular heterotopia 8, MIM# 618185, Type 1 interferrinopathy of childhood, MONDO:0957408, ARF1 related","entity_name":"ARF1","entity_type":"gene"},{"created":"2025-06-09T19:38:54.405584+10:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.7","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARF1 as ready","entity_name":"ARF1","entity_type":"gene"},{"created":"2025-06-09T19:38:54.397804+10:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arf1 has been classified as Green List (High Evidence).","entity_name":"ARF1","entity_type":"gene"},{"created":"2025-06-09T19:38:30.123766+10:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.7","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARF1 were changed from Interferonopathy to Type 1 interferrinopathy of childhood, MONDO:0957408, ARF1 related","entity_name":"ARF1","entity_type":"gene"},{"created":"2025-06-09T19:38:00.378872+10:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.6","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ARF1 as Green List (high evidence)","entity_name":"ARF1","entity_type":"gene"},{"created":"2025-06-09T19:38:00.372600+10:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arf1 has been classified as Green List (High Evidence).","entity_name":"ARF1","entity_type":"gene"},{"created":"2025-06-09T19:37:37.257375+10:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.5","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Type 1 interferrinopathy of childhood, MONDO:0957408, ARF1 related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ARF1","entity_type":"gene"},{"created":"2025-06-09T19:31:32.635165+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRPH2 as ready","entity_name":"PRPH2","entity_type":"gene"},{"created":"2025-06-09T19:31:32.625129+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prph2 has been classified as Green List (High Evidence).","entity_name":"PRPH2","entity_type":"gene"},{"created":"2025-06-09T19:31:25.386665+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRPH2 as Green List (high evidence)","entity_name":"PRPH2","entity_type":"gene"},{"created":"2025-06-09T19:31:25.373337+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prph2 has been classified as Green List (High Evidence).","entity_name":"PRPH2","entity_type":"gene"},{"created":"2025-06-09T19:31:02.011214+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RDH12 as ready","entity_name":"RDH12","entity_type":"gene"},{"created":"2025-06-09T19:31:02.004425+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rdh12 has been classified as Green List (High Evidence).","entity_name":"RDH12","entity_type":"gene"},{"created":"2025-06-09T19:30:58.605403+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RDH12 were changed from Leber congenital amaurosis 13, 612712; Retinitis Pigmentosa, Recessive to Leber congenital amaurosis 13, 612712; RDH12-related recessive retinopathy MONDO:0800099","entity_name":"RDH12","entity_type":"gene"},{"created":"2025-06-09T19:30:41.953712+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.162","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RDH12 were set to ","entity_name":"RDH12","entity_type":"gene"},{"created":"2025-06-09T19:30:13.023574+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RHO as ready","entity_name":"RHO","entity_type":"gene"},{"created":"2025-06-09T19:30:13.016323+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rho has been classified as Green List (High Evidence).","entity_name":"RHO","entity_type":"gene"},{"created":"2025-06-09T19:30:09.634808+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RHO were changed from Retinitis pigmentosa 4, autosomal dominant or recessive, 613731; Retinitis punctata albescens; Congenital Stationary Night Blindness to Retinitis pigmentosa 4, autosomal dominant or recessive, 613731; inherited retinal dystrophy MONDO:0019118","entity_name":"RHO","entity_type":"gene"},{"created":"2025-06-09T19:29:18.467797+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RHO were set to ","entity_name":"RHO","entity_type":"gene"},{"created":"2025-06-09T19:24:05.706053+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.165","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTPN1 as ready","entity_name":"PTPN1","entity_type":"gene"},{"created":"2025-06-09T19:24:05.698498+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.165","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptpn1 has been classified as Green List (High Evidence).","entity_name":"PTPN1","entity_type":"gene"},{"created":"2025-06-09T19:23:38.262138+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.165","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PTPN1 as Green List (high evidence)","entity_name":"PTPN1","entity_type":"gene"},{"created":"2025-06-09T19:23:38.252860+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.165","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptpn1 has been classified as Green List (High Evidence).","entity_name":"PTPN1","entity_type":"gene"},{"created":"2025-06-09T19:23:12.952280+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.164","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTPN1 was added\ngene: PTPN1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PTPN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PTPN1 were set to 39986310\nPhenotypes for gene: PTPN1 were set to Type 1 interferonopathy of childhood, MONDO:0957408, PTPN1-related\nReview for gene: PTPN1 was set to GREEN\nAdded comment: 12 patients from 11 families with phenotype characterised by subacute loss of skills following initially normal development, spastic dystonia, bulbar involvement, preserved head circumference, and an absence of seizures. The observation of enhanced type 1 IFN signalling in patient blood and CSF, and of increased levels of CSF neopterin suggests that PTPN1 haploinsufficiency can be classified as a novel type 1 interferonopathy. Features apparently distinguishing PTP1B-related encephalopathy from Aicardi-Goutières syndrome are a later age at onset (nine of 12 cases in cohort presenting beyond 18 months of age), notable bulbar involvement manifesting as difficulties with swallowing and expressive speech, and cerebral atrophy as the predominant neuroradiological sign. \nSources: Literature","entity_name":"PTPN1","entity_type":"gene"},{"created":"2025-06-09T19:22:46.351511+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.579","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTPN1 as ready","entity_name":"PTPN1","entity_type":"gene"},{"created":"2025-06-09T19:22:46.344343+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.579","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptpn1 has been classified as Green List (High Evidence).","entity_name":"PTPN1","entity_type":"gene"},{"created":"2025-06-09T19:21:51.593341+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.579","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PTPN1 as Green List (high evidence)","entity_name":"PTPN1","entity_type":"gene"},{"created":"2025-06-09T19:21:51.586528+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.579","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptpn1 has been classified as Green List (High Evidence).","entity_name":"PTPN1","entity_type":"gene"},{"created":"2025-06-09T19:21:19.359978+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2634","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTPN1 as ready","entity_name":"PTPN1","entity_type":"gene"},{"created":"2025-06-09T19:21:19.353975+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2634","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptpn1 has been classified as Green List (High Evidence).","entity_name":"PTPN1","entity_type":"gene"},{"created":"2025-06-09T19:21:09.555057+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2634","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PTPN1 as Green List (high evidence)","entity_name":"PTPN1","entity_type":"gene"},{"created":"2025-06-09T19:21:09.548573+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2634","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptpn1 has been classified as Green List (High Evidence).","entity_name":"PTPN1","entity_type":"gene"},{"created":"2025-06-09T19:21:07.699743+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.578","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTPN1 was added\ngene: PTPN1 was added to Regression. Sources: Literature\nMode of inheritance for gene: PTPN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PTPN1 were set to 39986310\nPhenotypes for gene: PTPN1 were set to Type 1 interferonopathy of childhood, MONDO:0957408, PTPN1-related\nReview for gene: PTPN1 was set to GREEN\nAdded comment: 12 patients from 11 families with phenotype characterised by subacute loss of skills following initially normal development, spastic dystonia, bulbar involvement, preserved head circumference, and an absence of seizures. The observation of enhanced type 1 IFN signalling in patient blood and CSF, and of increased levels of CSF neopterin suggests that PTPN1 haploinsufficiency can be classified as a novel type 1 interferonopathy. Features apparently distinguishing PTP1B-related encephalopathy from Aicardi-Goutières syndrome are a later age at onset (nine of 12 cases in cohort presenting beyond 18 months of age), notable bulbar involvement manifesting as difficulties with swallowing and expressive speech, and cerebral atrophy as the predominant neuroradiological sign. \nSources: Literature","entity_name":"PTPN1","entity_type":"gene"},{"created":"2025-06-09T19:19:46.585087+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2633","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTPN1 was added\ngene: PTPN1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PTPN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PTPN1 were set to 39986310\nPhenotypes for gene: PTPN1 were set to Type 1 interferonopathy of childhood, MONDO:0957408, PTPN1-related\nReview for gene: PTPN1 was set to GREEN\nAdded comment: 12 patients from 11 families with phenotype characterised by subacute loss of skills following initially normal development, spastic dystonia, bulbar involvement, preserved head circumference, and an absence of seizures. The observation of enhanced type 1 IFN signalling in patient blood and CSF, and of increased levels of CSF neopterin suggests that PTPN1 haploinsufficiency can be classified as a novel type 1 interferonopathy. Features apparently distinguishing PTP1B-related encephalopathy from Aicardi-Goutières syndrome are a later age at onset (nine of 12 cases in cohort presenting beyond 18 months of age), notable bulbar involvement manifesting as difficulties with swallowing and expressive speech, and cerebral atrophy as the predominant neuroradiological sign. \nSources: Literature","entity_name":"PTPN1","entity_type":"gene"},{"created":"2025-06-09T19:19:31.485891+10:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.5","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTPN1 were changed from Autoinflammatory encephalopathy to Type 1 interferonopathy of childhood, MONDO:0957408, PTPN1-related","entity_name":"PTPN1","entity_type":"gene"},{"created":"2025-06-09T19:17:52.176235+10:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTPN1 as ready","entity_name":"PTPN1","entity_type":"gene"},{"created":"2025-06-09T19:17:52.166564+10:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptpn1 has been classified as Green List (High Evidence).","entity_name":"PTPN1","entity_type":"gene"},{"created":"2025-06-09T19:17:23.988486+10:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.4","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PTPN1 as Green List (high evidence)","entity_name":"PTPN1","entity_type":"gene"},{"created":"2025-06-09T19:17:23.969478+10:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptpn1 has been classified as Green List (High Evidence).","entity_name":"PTPN1","entity_type":"gene"},{"created":"2025-06-09T19:17:00.321414+10:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.3","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PTPN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Type 1 interferonopathy of childhood, MONDO:0957408, PTPN1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PTPN1","entity_type":"gene"},{"created":"2025-06-06T12:27:49.420654+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.447","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: WNT11 as ready","entity_name":"WNT11","entity_type":"gene"},{"created":"2025-06-06T12:27:49.413846+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.447","user_name":"Krithika Murali","item_type":"entity","text":"Gene: wnt11 has been classified as Red List (Low Evidence).","entity_name":"WNT11","entity_type":"gene"},{"created":"2025-06-06T12:27:37.052817+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.147","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: WNT11 as ready","entity_name":"WNT11","entity_type":"gene"},{"created":"2025-06-06T12:27:37.042804+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.147","user_name":"Krithika Murali","item_type":"entity","text":"Gene: wnt11 has been classified as Red List (Low Evidence).","entity_name":"WNT11","entity_type":"gene"},{"created":"2025-06-06T12:27:15.687472+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.545","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: WSB2 as Green List (high evidence)","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:27:15.677556+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.545","user_name":"Krithika Murali","item_type":"entity","text":"Gene: wsb2 has been classified as Green List (High Evidence).","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:27:06.040716+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.544","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: WSB2 as ready","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:27:06.032411+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.544","user_name":"Krithika Murali","item_type":"entity","text":"Gene: wsb2 has been classified as Red List (Low Evidence).","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:26:45.953218+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.155","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: WSB2 as Green List (high evidence)","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:26:45.947180+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.155","user_name":"Krithika Murali","item_type":"entity","text":"Gene: wsb2 has been classified as Green List (High Evidence).","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:26:36.228831+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.154","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: WSB2 as ready","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:26:36.221296+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.154","user_name":"Krithika Murali","item_type":"entity","text":"Gene: wsb2 has been classified as Red List (Low Evidence).","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:26:11.236288+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.87","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: WSB2 as Green List (high evidence)","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:26:11.229879+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.87","user_name":"Krithika Murali","item_type":"entity","text":"Gene: wsb2 has been classified as Green List (High Evidence).","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:26:06.032580+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.86","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: WSB2 as ready","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:26:06.023664+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.86","user_name":"Krithika Murali","item_type":"entity","text":"Gene: wsb2 has been classified as Red List (Low Evidence).","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:25:52.625377+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.316","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: WSB2 as Green List (high evidence)","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:25:52.617868+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.316","user_name":"Krithika Murali","item_type":"entity","text":"Gene: wsb2 has been classified as Green List (High Evidence).","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:25:40.056149+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.316","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: WSB2 as Green List (high evidence)","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:25:40.034417+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.316","user_name":"Krithika Murali","item_type":"entity","text":"Gene: wsb2 has been classified as Green List (High Evidence).","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:25:22.899008+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.315","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: WSB2 as Green List (high evidence)","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:25:22.889307+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.315","user_name":"Krithika Murali","item_type":"entity","text":"Gene: wsb2 has been classified as Green List (High Evidence).","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:25:13.648426+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.314","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: WSB2 as ready","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:25:13.640654+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.314","user_name":"Krithika Murali","item_type":"entity","text":"Gene: wsb2 has been classified as Red List (Low Evidence).","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:24:45.732907+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2632","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: WSB2 as ready","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:24:45.726447+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2632","user_name":"Krithika Murali","item_type":"entity","text":"Gene: wsb2 has been classified as Green List (High Evidence).","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:24:41.680168+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2632","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: WSB2 as Green List (high evidence)","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:24:41.673145+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2632","user_name":"Krithika Murali","item_type":"entity","text":"Gene: wsb2 has been classified as Green List (High Evidence).","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:24:20.409655+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.80","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: WSB2 as Green List (high evidence)","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:24:20.402930+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.80","user_name":"Krithika Murali","item_type":"entity","text":"Gene: wsb2 has been classified as Green List (High Evidence).","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:24:19.342575+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.79","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: WSB2 as ready","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:24:19.330735+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.79","user_name":"Krithika Murali","item_type":"entity","text":"Gene: wsb2 has been classified as Red List (Low Evidence).","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:24:11.241485+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.163","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: WSB2 as Green List (high evidence)","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:24:11.235397+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.163","user_name":"Krithika Murali","item_type":"entity","text":"Gene: wsb2 has been classified as Green List (High Evidence).","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:23:58.822062+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.164","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: WSB2 as Green List (high evidence)","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:23:58.797487+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.164","user_name":"Krithika Murali","item_type":"entity","text":"Gene: wsb2 has been classified as Green List (High Evidence).","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:23:45.315362+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.163","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: WSB2 as Green List (high evidence)","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:23:45.294036+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.163","user_name":"Krithika Murali","item_type":"entity","text":"Gene: wsb2 has been classified as Green List (High Evidence).","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:23:33.069692+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.163","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: WSB2 as Green List (high evidence)","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:23:33.053200+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.163","user_name":"Krithika Murali","item_type":"entity","text":"Gene: wsb2 has been classified as Green List (High Evidence).","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:23:30.616434+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.162","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: WSB2 as ready","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:23:30.606859+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.162","user_name":"Krithika Murali","item_type":"entity","text":"Gene: wsb2 has been classified as Red List (Low Evidence).","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:22:55.174960+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.370","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: WSB2 as ready","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:22:55.164304+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.370","user_name":"Krithika Murali","item_type":"entity","text":"Gene: wsb2 has been classified as Green List (High Evidence).","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:22:47.605463+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.370","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: WSB2 as Green List (high evidence)","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:22:47.595682+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.370","user_name":"Krithika Murali","item_type":"entity","text":"Gene: wsb2 has been classified as Green List (High Evidence).","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:21:41.991662+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.369","user_name":"Krithika Murali","item_type":"entity","text":"gene: WSB2 was added\ngene: WSB2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: WSB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WSB2 were set to PMID:40374945\nPhenotypes for gene: WSB2 were set to Complex neurodevelopmental disorder, MONDO:0100038, WSB2-related\nReview for gene: WSB2 was set to GREEN\nAdded comment: PMID: 40374945 describe 5 individuals from 4 unrelated families with biallelic WSB2 variants and a complex neurodevelopmental disorder. Phenotypic features include:\r\n- Dev delay (all)\r\n- Brain anomalies (4/5 including callosal anomalies and cerebellar hypoplasia)\r\n- Dysmorphic feature\r\n- IUGR/oligohydramnios (3/5)\r\n- Hypotonia (all)\r\n- Microcephaly (3/5)\r\n- Seizures (3/5)\r\n\r\nIncludes two siblings with biallelic missense variants and shared phenotype. 3 unaffected siblings were heterozygous for the variant or hmz wt. Phenotypic features associated with hmz nonsense/fs variants were more severe than missense.\r\n\r\nSupportive mouse model. \nSources: Literature","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:20:56.800037+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.162","user_name":"Krithika Murali","item_type":"entity","text":"gene: WSB2 was added\ngene: WSB2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: WSB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WSB2 were set to PMID:40374945\nPhenotypes for gene: WSB2 were set to Complex neurodevelopmental disorder, MONDO:0100038, WSB2-related\nReview for gene: WSB2 was set to GREEN\nAdded comment: PMID: 40374945 describe 5 individuals from 4 unrelated families with biallelic WSB2 variants and a complex neurodevelopmental disorder. Phenotypic features include:\r\n- Dev delay (all)\r\n- Brain anomalies (4/5 including callosal anomalies and cerebellar hypoplasia)\r\n- Dysmorphic feature\r\n- IUGR/oligohydramnios (3/5)\r\n- Hypotonia (all)\r\n- Microcephaly (3/5)\r\n- Seizures (3/5)\r\n\r\nIncludes two siblings with biallelic missense variants and shared phenotype. 3 unaffected siblings were heterozygous for the variant or hmz wt. Phenotypic features associated with hmz nonsense/fs variants were more severe than missense.\r\n\r\nSupportive mouse model. \nSources: Literature","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:20:08.134080+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.314","user_name":"Krithika Murali","item_type":"entity","text":"gene: WSB2 was added\ngene: WSB2 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: WSB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WSB2 were set to PMID: 40374945\nPhenotypes for gene: WSB2 were set to Complex neurodevelopmental disorder, MONDO:0100038, WSB2-related\nReview for gene: WSB2 was set to GREEN\nAdded comment: PMID: 40374945 describe 5 individuals from 4 unrelated families with biallelic WSB2 variants and a complex neurodevelopmental disorder. Phenotypic features include:\r\n- Dev delay (all)\r\n- Brain anomalies (4/5 including callosal anomalies and cerebellar hypoplasia)\r\n- Dysmorphic feature\r\n- IUGR/oligohydramnios (3/5)\r\n- Hypotonia (all)\r\n- Microcephaly (3/5)\r\n- Seizures (3/5)\r\n\r\nIncludes two siblings with biallelic missense variants and shared phenotype. 3 unaffected siblings were heterozygous for the variant or hmz wt. Phenotypic features associated with hmz nonsense/fs variants were more severe than missense.\r\n\r\nSupportive mouse model. \nSources: Literature","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:18:12.425037+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.86","user_name":"Krithika Murali","item_type":"entity","text":"gene: WSB2 was added\ngene: WSB2 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: WSB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WSB2 were set to PMID: 40374945\nPhenotypes for gene: WSB2 were set to Complex neurodevelopmental disorder, MONDO:0100038, WSB2-related\nReview for gene: WSB2 was set to GREEN\nAdded comment: PMID: 40374945 describe 5 individuals from 4 unrelated families with biallelic WSB2 variants and a complex neurodevelopmental disorder. Phenotypic features include:\r\n- Dev delay (all)\r\n- Brain anomalies (4/5 including callosal anomalies and cerebellar hypoplasia)\r\n- Dysmorphic feature\r\n- IUGR/oligohydramnios (3/5)\r\n- Hypotonia (all)\r\n- Microcephaly (3/5)\r\n- Seizures (3/5)\r\n\r\nIncludes two siblings with biallelic missense variants and shared phenotype. 3 unaffected siblings were heterozygous for the variant or hmz wt. Phenotypic features associated with hmz nonsense/fs variants were more severe than missense.\r\n\r\nSupportive mouse model. \nSources: Literature","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:16:17.754812+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.154","user_name":"Krithika Murali","item_type":"entity","text":"gene: WSB2 was added\ngene: WSB2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: WSB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WSB2 were set to PMID: 40374945\nPhenotypes for gene: WSB2 were set to Complex neurodevelopmental disorder, MONDO:0100038, WSB2-related\nReview for gene: WSB2 was set to GREEN\nAdded comment: PMID: 40374945 describe 5 individuals from 4 unrelated families with biallelic WSB2 variants and a complex neurodevelopmental disorder. Phenotypic features include:\r\n- Dev delay (all)\r\n- Brain anomalies (4/5 including callosal anomalies and cerebellar hypoplasia)\r\n- Dysmorphic feature\r\n- IUGR/oligohydramnios (3/5)\r\n- Hypotonia (all)\r\n- Microcephaly (3/5)\r\n- Seizures (3/5)\r\n\r\nIncludes two siblings with biallelic missense variants and shared phenotype. 3 unaffected siblings were heterozygous for the variant or hmz wt. Phenotypic features associated with hmz nonsense/fs variants were more severe than missense.\r\n\r\nSupportive mouse model. \nSources: Literature","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:14:54.544877+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2631","user_name":"Krithika Murali","item_type":"entity","text":"gene: WSB2 was added\ngene: WSB2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: WSB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WSB2 were set to PMID:40374945\nPhenotypes for gene: WSB2 were set to Complex neurodevelopmental disorder, MONDO:0100038, WSB2-related\nReview for gene: WSB2 was set to GREEN\nAdded comment: PMID: 40374945 describe 5 individuals from 4 unrelated families with biallelic WSB2 variants and a complex neurodevelopmental disorder. Phenotypic features include:\r\n- Dev delay (all)\r\n- Brain anomalies (4/5 including callosal anomalies and cerebellar hypoplasia)\r\n- Dysmorphic feature\r\n- IUGR/oligohydramnios (3/5)\r\n- Hypotonia (all)\r\n- Microcephaly (3/5)\r\n- Seizures (3/5)\r\n\r\nIncludes two siblings with biallelic missense variants and shared phenotype. 3 unaffected siblings were heterozygous for the variant or hmz wt. Phenotypic features associated with hmz nonsense/fs variants were more severe than missense.\r\n\r\nSupportive mouse model. \nSources: Literature","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:13:28.744713+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.544","user_name":"Krithika Murali","item_type":"entity","text":"gene: WSB2 was added\ngene: WSB2 was added to Callosome. Sources: Literature\nMode of inheritance for gene: WSB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WSB2 were set to PMID: 40374945\nPhenotypes for gene: WSB2 were set to Complex neurodevelopmental disorder, MONDO:0100038, WSB2-related\nReview for gene: WSB2 was set to GREEN\nAdded comment: PMID: 40374945 describe 5 individuals from 4 unrelated families with biallelic WSB2 variants and a complex neurodevelopmental disorder. Phenotypic features include:\r\n- Dev delay (all)\r\n- Brain anomalies (4/5 including callosal anomalies and cerebellar hypoplasia)\r\n- Dysmorphic feature\r\n- IUGR/oligohydramnios (3/5)\r\n- Hypotonia (all)\r\n- Microcephaly (3/5)\r\n- Seizures (3/5)\r\n\r\nIncludes two siblings with biallelic missense variants and shared phenotype. 3 unaffected siblings were heterozygous for the variant or hmz wt. Phenotypic features associated with hmz nonsense/fs variants were more severe than missense.\r\n\r\nSupportive mouse model. \nSources: Literature","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T12:12:23.288516+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.79","user_name":"Krithika Murali","item_type":"entity","text":"gene: WSB2 was added\ngene: WSB2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: WSB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WSB2 were set to PMID: 40374945\nPhenotypes for gene: WSB2 were set to Complex neurodevelopmental disorder, MONDO:0100038, WSB2-related\nReview for gene: WSB2 was set to GREEN\nAdded comment: PMID: 40374945 describe 5 individuals from 4 unrelated families with biallelic WSB2 variants and a complex neurodevelopmental disorder. Phenotypic features include:\r\n- Dev delay (all)\r\n- Brain anomalies (4/5 including callosal anomalies and cerebellar hypoplasia)\r\n- Dysmorphic feature\r\n- IUGR/oligohydramnios (3/5)\r\n- Hypotonia (all)\r\n- Microcephaly (3/5)\r\n- Seizures (3/5)\r\n\r\nIncludes two siblings with biallelic missense variants and shared phenotype. 3 unaffected siblings were heterozygous for the variant or hmz wt. Phenotypic features associated with hmz nonsense/fs variants were more severe than missense. \r\n\r\nSupportive mouse model. \nSources: Literature","entity_name":"WSB2","entity_type":"gene"},{"created":"2025-06-06T11:45:42.499702+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.147","user_name":"Krithika Murali","item_type":"entity","text":"gene: WNT11 was added\ngene: WNT11 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature\nMode of inheritance for gene: WNT11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WNT11 were set to PMID: 40200693\nPhenotypes for gene: WNT11 were set to Laterality defects; complex congenital heart defects; renal defects\nReview for gene: WNT11 was set to RED\nAdded comment: PMID: 40200693 report an infant of consanguineous South-East Asian descent with dextrocardia, tetralogy of Fallot and severe bilateral renal hypodysplasia with end-stage renal failure. WES identified a homozygous predicted NMD-escape WNT11 variant c.814delG; p.Glu272Asn*13 variant in the child with both parents confirmed to be heterozygous for this variant. The authors postulate this variant encodes a protein with reduced stability that lost signaling activity in vivo based on functional studies in Xenopus embryos.\r\n\r\nThe proband's mother also has a history of situs inversus totalis and is heterozygous for this variant, the father is unaffected. The authors do not describe any features in the parents of the established bone fragility monoallelic association with this gene (PMID: 34875064). No other individuals with biallelic variants and an associated phenotype were identified through GeneMatcher. \nSources: Literature","entity_name":"WNT11","entity_type":"gene"},{"created":"2025-06-06T11:43:37.709935+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.447","user_name":"Krithika Murali","item_type":"entity","text":"gene: WNT11 was added\ngene: WNT11 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: WNT11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WNT11 were set to PMID: 40200693\nPhenotypes for gene: WNT11 were set to Laterality defects; complex congenital heart defects; renal defects\nReview for gene: WNT11 was set to RED\nAdded comment: PMID: 40200693 report an infant of consanguineous South-East Asian descent with dextrocardia, tetralogy of Fallot and severe bilateral renal hypodysplasia.  WES identified a homozygous predicted NMD-escape WNT11 variant c.814delG; p.Glu272Asn*13 variant in the child with both parents confirmed to be heterozygous for this variant.  The authors postulate this variant encodes a protein with reduced stability that lost signaling activity in vivo based on functional studies in Xenopus embryos. \r\n\r\nThe proband's mother also has a history of situs inversus totalis and is heterozygous for this variant, the father is unaffected. The authors do not describe any features in the parents of the established bone fragility monoallelic association with this gene (PMID: 34875064).  No other individuals with biallelic variants and an associated phenotype were identified through GeneMatcher. \nSources: Literature","entity_name":"WNT11","entity_type":"gene"}]}