{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=414","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=412","results":[{"created":"2024-08-02T11:53:38.670709+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nbeal2 has been classified as Green List (High Evidence).","entity_name":"NBEAL2","entity_type":"gene"},{"created":"2024-08-02T11:53:35.624301+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NBEAL2 were changed from Immune dysregulation to Gray platelet syndrome, MIM# 139090; Immune dysregulation","entity_name":"NBEAL2","entity_type":"gene"},{"created":"2024-08-02T11:52:55.960456+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6081","user_name":"Ken Lee Wan","item_type":"entity","text":"reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36324412, 39016117; Phenotypes: familial porencephaly MONDO:0020496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"COL4A2","entity_type":"gene"},{"created":"2024-08-02T11:52:55.936646+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NBEAL2 as Green List (high evidence)","entity_name":"NBEAL2","entity_type":"gene"},{"created":"2024-08-02T11:52:55.917336+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nbeal2 has been classified as Green List (High Evidence).","entity_name":"NBEAL2","entity_type":"gene"},{"created":"2024-08-02T11:52:20.024687+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NBEAL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gray platelet syndrome, MIM# 139090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NBEAL2","entity_type":"gene"},{"created":"2024-08-02T11:49:31.556972+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNASEL were changed from MIS-C to Multisystem inflammatory syndrome, MONDO:0035375, RNASEL-related","entity_name":"RNASEL","entity_type":"gene"},{"created":"2024-08-02T11:48:38.500314+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RNASEL as Amber List (moderate evidence)","entity_name":"RNASEL","entity_type":"gene"},{"created":"2024-08-02T11:48:38.485260+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnasel has been classified as Amber List (Moderate Evidence).","entity_name":"RNASEL","entity_type":"gene"},{"created":"2024-08-02T11:48:01.225226+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RNASEL: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Multisystem inflammatory syndrome, MONDO:0035375, RNASEL-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RNASEL","entity_type":"gene"},{"created":"2024-08-02T11:47:46.447761+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1923","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OAS2 as ready","entity_name":"OAS2","entity_type":"gene"},{"created":"2024-08-02T11:47:46.420584+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1923","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: oas2 has been classified as Green List (High Evidence).","entity_name":"OAS2","entity_type":"gene"},{"created":"2024-08-02T11:47:21.935170+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1923","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: OAS2 as Green List (high evidence)","entity_name":"OAS2","entity_type":"gene"},{"created":"2024-08-02T11:47:21.921996+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1923","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: oas2 has been classified as Green List (High Evidence).","entity_name":"OAS2","entity_type":"gene"},{"created":"2024-08-02T11:47:01.645008+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1922","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OAS2 was added\ngene: OAS2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: OAS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OAS2 were set to 36538032\nPhenotypes for gene: OAS2 were set to Multisystem inflammatory syndrome, MONDO:0035375, OAS2-related\nReview for gene: OAS2 was set to GREEN\nAdded comment: 3x unrelated patients with MIS-C after COVID infection. Patients displayed excessive inflammatory responses to intracellular dsRNA, SARS-CoV-2, SARS-CoV-2–infected cells, and their RNA, providing a plausible mechanism for MIS-C. Similar presentation to OAS1 and RNASEL. Functional data. \nSources: Literature","entity_name":"OAS2","entity_type":"gene"},{"created":"2024-08-02T11:45:17.870438+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OAS2 as ready","entity_name":"OAS2","entity_type":"gene"},{"created":"2024-08-02T11:45:17.853204+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: oas2 has been classified as Green List (High Evidence).","entity_name":"OAS2","entity_type":"gene"},{"created":"2024-08-02T11:45:14.892816+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OAS2 were changed from MIS-C to Multisystem inflammatory syndrome, MONDO:0035375, OAS2-related","entity_name":"OAS2","entity_type":"gene"},{"created":"2024-08-02T11:44:31.981683+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: OAS2 as Green List (high evidence)","entity_name":"OAS2","entity_type":"gene"},{"created":"2024-08-02T11:44:31.966295+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: oas2 has been classified as Green List (High Evidence).","entity_name":"OAS2","entity_type":"gene"},{"created":"2024-08-02T11:43:57.414063+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: OAS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36538032; Phenotypes: Multisystem inflammatory syndrome, MONDO:0035375, OAS2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"OAS2","entity_type":"gene"},{"created":"2024-08-02T11:40:51.059011+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1921","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NFATC2 were changed from Skeletal system disorder MONDO:0005172 to Skeletal system disorder MONDO:0005172; Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related","entity_name":"NFATC2","entity_type":"gene"},{"created":"2024-08-02T11:40:29.302935+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1920","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NFATC2 were set to 35789258","entity_name":"NFATC2","entity_type":"gene"},{"created":"2024-08-02T11:40:05.501971+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1919","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NFATC2: Rating: RED; Mode of pathogenicity: None; Publications: 38427060; Phenotypes: Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NFATC2","entity_type":"gene"},{"created":"2024-08-02T11:38:13.161315+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NFATC2 as ready","entity_name":"NFATC2","entity_type":"gene"},{"created":"2024-08-02T11:38:13.147184+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nfatc2 has been classified as Red List (Low Evidence).","entity_name":"NFATC2","entity_type":"gene"},{"created":"2024-08-02T11:38:07.117633+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NFATC2 were changed from EBV associated lymphoproliferative disease to Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related","entity_name":"NFATC2","entity_type":"gene"},{"created":"2024-08-02T11:37:29.322292+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NFATC2 as Red List (low evidence)","entity_name":"NFATC2","entity_type":"gene"},{"created":"2024-08-02T11:37:29.308502+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nfatc2 has been classified as Red List (Low Evidence).","entity_name":"NFATC2","entity_type":"gene"},{"created":"2024-08-02T11:36:55.873372+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NFATC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NFATC2","entity_type":"gene"},{"created":"2024-08-02T11:35:30.294714+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6081","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLN8 as ready","entity_name":"CLN8","entity_type":"gene"},{"created":"2024-08-02T11:35:30.276392+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6081","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cln8 has been classified as Green List (High Evidence).","entity_name":"CLN8","entity_type":"gene"},{"created":"2024-08-02T11:35:25.944140+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6081","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLN8 were changed from  to neuronal ceroid lipofuscinosis MONDO:0016295","entity_name":"CLN8","entity_type":"gene"},{"created":"2024-08-02T11:34:49.593622+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6080","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CLN8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLN8","entity_type":"gene"},{"created":"2024-08-02T11:01:24.557472+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6079","user_name":"Ken Lee Wan","item_type":"entity","text":"reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neuronal ceroid lipofuscinosis MONDO:0016295; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"CLN8","entity_type":"gene"},{"created":"2024-08-02T10:58:54.756366+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IKBKE as ready","entity_name":"IKBKE","entity_type":"gene"},{"created":"2024-08-02T10:58:54.743987+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ikbke has been classified as Amber List (Moderate Evidence).","entity_name":"IKBKE","entity_type":"gene"},{"created":"2024-08-02T10:58:40.681676+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1919","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IKBKE as ready","entity_name":"IKBKE","entity_type":"gene"},{"created":"2024-08-02T10:58:40.668270+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1919","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ikbke has been classified as Amber List (Moderate Evidence).","entity_name":"IKBKE","entity_type":"gene"},{"created":"2024-08-02T10:58:09.922785+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1919","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IKBKE as Amber List (moderate evidence)","entity_name":"IKBKE","entity_type":"gene"},{"created":"2024-08-02T10:58:09.910837+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1919","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ikbke has been classified as Amber List (Moderate Evidence).","entity_name":"IKBKE","entity_type":"gene"},{"created":"2024-08-02T10:57:43.066918+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1918","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IKBKE was added\ngene: IKBKE was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: IKBKE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IKBKE were set to 37937644\nPhenotypes for gene: IKBKE were set to Encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174, IKBKE-related\nReview for gene: IKBKE was set to AMBER\nAdded comment: Single patient with recurrent HSV meningitis with supportive functional data. \nSources: Literature","entity_name":"IKBKE","entity_type":"gene"},{"created":"2024-08-02T10:57:41.911189+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IKBKE were changed from Recurrent HSV encephalitis to Encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174, IKBKE-related","entity_name":"IKBKE","entity_type":"gene"},{"created":"2024-08-02T10:53:58.729570+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IKBKE as Amber List (moderate evidence)","entity_name":"IKBKE","entity_type":"gene"},{"created":"2024-08-02T10:53:58.691148+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ikbke has been classified as Amber List (Moderate Evidence).","entity_name":"IKBKE","entity_type":"gene"},{"created":"2024-08-02T10:53:17.644506+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IKBKE: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174, IKBKE-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"IKBKE","entity_type":"gene"},{"created":"2024-08-02T10:49:31.458895+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1917","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SYCP2L were set to 32303603","entity_name":"SYCP2L","entity_type":"gene"},{"created":"2024-08-02T10:49:08.733031+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1916","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SYCP2L as Green List (high evidence)","entity_name":"SYCP2L","entity_type":"gene"},{"created":"2024-08-02T10:49:08.713340+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1916","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sycp2l has been classified as Green List (High Evidence).","entity_name":"SYCP2L","entity_type":"gene"},{"created":"2024-08-02T10:48:48.681930+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1915","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: PMID: 38521400 - A homozygous nonsense variant segregated with POI in a pedigree with two affected sisters (c.1528C>T, p.(Gln510Ter)) PMID: 32303603 - Two unrelated individuals with premature ovarian insufficiency and homozygous variants (c.150_151del (p.Ser52Profs*7), c.999A>G (p.Ile333Met)) in SYCP2L. Concordant mouse model.; to: PMID: 38521400 - A homozygous nonsense variant segregated with POI in a pedigree with two affected sisters c.1528C>T, p.(Gln510Ter)","entity_name":"SYCP2L","entity_type":"gene"},{"created":"2024-08-02T10:48:25.559935+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1915","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SYCP2L: Rating: GREEN; Mode of pathogenicity: None; Publications: 38521400; Phenotypes: Premature ovarian failure 24, MIM# 620840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SYCP2L","entity_type":"gene"},{"created":"2024-08-02T10:47:27.995305+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.330","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SYCP2L were set to ","entity_name":"SYCP2L","entity_type":"gene"},{"created":"2024-08-02T10:47:15.037989+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.329","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SYCP2L as Green List (high evidence)","entity_name":"SYCP2L","entity_type":"gene"},{"created":"2024-08-02T10:47:15.018701+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.329","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sycp2l has been classified as Green List (High Evidence).","entity_name":"SYCP2L","entity_type":"gene"},{"created":"2024-08-02T10:44:30.714153+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HBS1L as ready","entity_name":"HBS1L","entity_type":"gene"},{"created":"2024-08-02T10:44:30.701730+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hbs1l has been classified as Amber List (Moderate Evidence).","entity_name":"HBS1L","entity_type":"gene"},{"created":"2024-08-02T10:43:15.732768+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6079","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LEO1 as ready","entity_name":"LEO1","entity_type":"gene"},{"created":"2024-08-02T10:43:15.718942+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6079","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: leo1 has been classified as Amber List (Moderate Evidence).","entity_name":"LEO1","entity_type":"gene"},{"created":"2024-08-02T10:43:07.587733+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6079","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LEO1 as Amber List (moderate evidence)","entity_name":"LEO1","entity_type":"gene"},{"created":"2024-08-02T10:43:07.573606+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6079","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: leo1 has been classified as Amber List (Moderate Evidence).","entity_name":"LEO1","entity_type":"gene"},{"created":"2024-08-02T10:42:28.999273+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6078","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LEO1 was added\ngene: LEO1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: LEO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LEO1 were set to 38965372\nPhenotypes for gene: LEO1 were set to neurodevelopmental disorder MONDO:0700092, LEO-1 related\nReview for gene: LEO1 was set to AMBER\nAdded comment: cohort of individuals with delayed motor and speech development, ASD\r\n\r\n8x de novo – 6x missense + 2x PTC\r\n1x pat splice (father unaffected)\r\n2x unknown_inh PTCs\r\n\r\nOf the missense variants, G370E has 8 hets in gnomad v4\r\n\r\nThis gene is not constraint for LoF with 4 hets with an NMD variant in gnomad v4\r\n3 of the missense are said to lie within a region of missense constraint, however this isn't the case in v4 \nSources: Literature","entity_name":"LEO1","entity_type":"gene"},{"created":"2024-08-02T10:39:17.220632+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6077","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHD2 were changed from Epileptic encephalopathy, childhood-onset (MIM # 615369) to Developmental and epileptic encephalopathy 94, MIM# 615369","entity_name":"CHD2","entity_type":"gene"},{"created":"2024-08-02T10:38:44.903095+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6076","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHD2 were set to ","entity_name":"CHD2","entity_type":"gene"},{"created":"2024-08-02T10:38:09.598863+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6075","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 94, MIM# 615369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CHD2","entity_type":"gene"},{"created":"2024-08-02T10:32:28.917162+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6075","user_name":"Ken Lee Wan","item_type":"entity","text":"reviewed gene: CHD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26677509; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"CHD2","entity_type":"gene"},{"created":"2024-08-02T08:09:39.622805+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CD28 were changed from Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901; isolated susceptibility to cutaneous α- and γ-HPVs to Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901; isolated susceptibility to cutaneous α- and γ-HPVs","entity_name":"CD28","entity_type":"gene"},{"created":"2024-08-02T08:09:16.070272+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CD28 were changed from Hereditary predisposition to infections, MONDO:0015979, CD28-related; isolated susceptibility to cutaneous α- and γ-HPVs to Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901; isolated susceptibility to cutaneous α- and γ-HPVs","entity_name":"CD28","entity_type":"gene"},{"created":"2024-08-02T08:08:35.642347+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CD28: Changed phenotypes: Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901","entity_name":"CD28","entity_type":"gene"},{"created":"2024-08-02T08:08:15.190344+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1915","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CD28 were changed from Hereditary predisposition to infections, MONDO:0015979, CD28-related; isolated susceptibility to cutaneous α- and γ-HPVs to Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901; isolated susceptibility to cutaneous α- and γ-HPVs","entity_name":"CD28","entity_type":"gene"},{"created":"2024-08-02T08:07:44.802596+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1914","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CD28: Changed phenotypes: Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901, isolated susceptibility to cutaneous α- and γ-HPVs","entity_name":"CD28","entity_type":"gene"},{"created":"2024-08-02T08:07:27.980753+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1914","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CD28: Changed phenotypes: Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#62090, isolated susceptibility to cutaneous α- and γ-HPVs","entity_name":"CD28","entity_type":"gene"},{"created":"2024-08-01T19:52:21.229713+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NEK8 were changed from Familial renal cystic disease MONDO:0019741, NEK8-related, dominant to Polycystic kidney disease 8, MIM# 620903","entity_name":"NEK8","entity_type":"gene"},{"created":"2024-08-01T19:51:40.752362+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 8, MIM# 620903; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NEK8","entity_type":"gene"},{"created":"2024-08-01T19:51:03.644277+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1914","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NEK8 were changed from Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174; Familial renal cystic disease MONDO:0019741, NEK8-related, dominant to Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174; Polycystic kidney disease 8, MIM# 620903","entity_name":"NEK8","entity_type":"gene"},{"created":"2024-08-01T19:50:43.188341+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1913","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NEK8: Changed phenotypes: Renal-hepatic-pancreatic dysplasia 2, MIM# 615415, MONDO:0014174, Polycystic kidney disease 8, MIM# 620903","entity_name":"NEK8","entity_type":"gene"},{"created":"2024-08-01T19:50:21.373029+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.55","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NEK8 were changed from Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174; Familial renal cystic disease MONDO:0019741, NEK8-related, dominant to Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174; Polycystic kidney disease 8, MIM# 620903","entity_name":"NEK8","entity_type":"gene"},{"created":"2024-08-01T19:49:43.760875+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.54","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NEK8: Changed phenotypes: Renal-hepatic-pancreatic dysplasia 2, MIM# 615415, MONDO:0014174, Polycystic kidney disease 8, MIM# 620903","entity_name":"NEK8","entity_type":"gene"},{"created":"2024-08-01T17:27:26.081378+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6075","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: RBBP5 were changed from  to neurodevelopmental disorder MONDO:0700092, RBBP5-related","entity_name":"RBBP5","entity_type":"gene"},{"created":"2024-08-01T17:26:37.302349+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6074","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: RBBP5: Changed phenotypes: neurodevelopmental disorder MONDO:0700092, RBBP5-related","entity_name":"RBBP5","entity_type":"gene"},{"created":"2024-08-01T17:25:07.214541+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6074","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: PCBP2 as ready","entity_name":"PCBP2","entity_type":"gene"},{"created":"2024-08-01T17:25:07.199598+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6074","user_name":"Ain Roesley","item_type":"entity","text":"Gene: pcbp2 has been classified as Green List (High Evidence).","entity_name":"PCBP2","entity_type":"gene"},{"created":"2024-08-01T17:25:01.157875+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1913","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: cohort of individuals with delayed motor and speech development, ASD\r\n\r\n8x de novo – 6x missense + 2x PTC\r\n1x pat splice (father unaffected)\r\n2x unknown_inh PTCs\r\n\r\nOf the missense variants, G370E has 8 hets in gnomad v4\r\n\r\nThis gene is not constraint for LoF with 4 hets with an NMD variant in gnomad v4 \r\nSources: Literature; to: cohort of individuals with delayed motor and speech development, ASD\r\n\r\n8x de novo – 6x missense + 2x PTC\r\n1x pat splice (father unaffected)\r\n2x unknown_inh PTCs\r\n\r\nOf the missense variants, G370E has 8 hets in gnomad v4\r\n\r\nThis gene is not constraint for LoF with 4 hets with an NMD variant in gnomad v4 \r\n3 of the missense are said to lie within a region of missense constraint, however this isn't the case in v4\r\n\r\nSources: Literature","entity_name":"LEO1","entity_type":"gene"},{"created":"2024-08-01T17:24:15.302899+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6074","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: PCBP2 as Green List (high evidence)","entity_name":"PCBP2","entity_type":"gene"},{"created":"2024-08-01T17:24:15.289922+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6074","user_name":"Ain Roesley","item_type":"entity","text":"Gene: pcbp2 has been classified as Green List (High Evidence).","entity_name":"PCBP2","entity_type":"gene"},{"created":"2024-08-01T17:23:11.729767+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6073","user_name":"Ain Roesley","item_type":"entity","text":"gene: PCBP2 was added\ngene: PCBP2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PCBP2 were set to 38965372\nPhenotypes for gene: PCBP2 were set to neurodevelopmental disorder MONDO:0700092, PCBP2-related\nReview for gene: PCBP2 was set to GREEN\ngene: PCBP2 was marked as current diagnostic\nAdded comment: 3x individuals with de novo variants\r\nMotor and speech delay and ASD\r\n2x missense + 1x fs\r\n\r\nThere are 2 NMD variants with 9 and 8 hets respectively in gnomad v4, however the IGV looks to be low quality \nSources: Literature","entity_name":"PCBP2","entity_type":"gene"},{"created":"2024-08-01T17:22:45.339454+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1913","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: PCBP2 as ready","entity_name":"PCBP2","entity_type":"gene"},{"created":"2024-08-01T17:22:45.311039+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1913","user_name":"Ain Roesley","item_type":"entity","text":"Gene: pcbp2 has been classified as Green List (High Evidence).","entity_name":"PCBP2","entity_type":"gene"},{"created":"2024-08-01T17:21:36.462854+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1913","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: PCBP2 as Green List (high evidence)","entity_name":"PCBP2","entity_type":"gene"},{"created":"2024-08-01T17:21:36.449082+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1913","user_name":"Ain Roesley","item_type":"entity","text":"Gene: pcbp2 has been classified as Green List (High Evidence).","entity_name":"PCBP2","entity_type":"gene"},{"created":"2024-08-01T17:21:12.462288+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1912","user_name":"Ain Roesley","item_type":"entity","text":"gene: PCBP2 was added\ngene: PCBP2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PCBP2 were set to 38965372\nPhenotypes for gene: PCBP2 were set to neurodevelopmental disorder MONDO:0700092, PCBP2-related\nReview for gene: PCBP2 was set to GREEN\ngene: PCBP2 was marked as current diagnostic\nAdded comment: 3x individuals with de novo variants\r\nMotor and speech delay and ASD\r\n2x missense + 1x fs\r\n\r\nThere are 2 NMD variants with 9 and 8 hets respectively in gnomad v4, however the IGV looks to be low quality \nSources: Literature","entity_name":"PCBP2","entity_type":"gene"},{"created":"2024-08-01T17:16:52.316901+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.76","user_name":"Cassandra Muller","item_type":"entity","text":"changed review comment from: 20+ unrelated Arab families reported in the literature with the same homozygous missense variant in this gene causing intellectual disability (p.(Val128Met))\r\nOther features can include microcephaly, growth failure, epilepsy.; to: 20+ unrelated Arab families reported in the literature with the same homozygous missense variant in this gene causing intellectual disability (p.(Val128Met)). One known family with a different variant in the same gene. \r\nOther features can include microcephaly, growth failure, epilepsy.","entity_name":"ADAT3","entity_type":"gene"},{"created":"2024-08-01T17:15:42.761444+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.76","user_name":"Cassandra Muller","item_type":"entity","text":"reviewed gene: ADAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23620220, 26842963, 29796286, 30296593, 35118659; Phenotypes: Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, MIM#615286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADAT3","entity_type":"gene"},{"created":"2024-08-01T17:11:32.658493+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1911","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: enrichment of a neurodev cohort\r\nLEO1:\r\n8x de novo – 6x missense + 2x PTC\r\n1x pat splice (father unaffected)\r\n2x unknown_inh PTCs\r\n\r\nOf the missense variants, G370E has 8 hets in gnomad v4\r\n\r\nThis gene is not constraint for LoF with 4 hets with an NMD variant in gnomad v4 \r\nSources: Literature; to: cohort of individuals with delayed motor and speech development, ASD\r\n\r\n8x de novo – 6x missense + 2x PTC\r\n1x pat splice (father unaffected)\r\n2x unknown_inh PTCs\r\n\r\nOf the missense variants, G370E has 8 hets in gnomad v4\r\n\r\nThis gene is not constraint for LoF with 4 hets with an NMD variant in gnomad v4 \r\nSources: Literature","entity_name":"LEO1","entity_type":"gene"},{"created":"2024-08-01T16:59:25.622223+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1911","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: enrichment of a neurodev cohort\r\nLEO1:\r\n8x de novo – 6x missense + 2x PTC\r\n1x pat splice\r\n2x unknown_inh PTCs\r\n\r\nOf the missense variants, G370E has 8 hets in gnomad v4\r\n\r\nThis gene is not constraint for LoF with 4 hets with an NMD variant in gnomad v4 \nSources: Literature; to: enrichment of a neurodev cohort\r\nLEO1:\r\n8x de novo – 6x missense + 2x PTC\r\n1x pat splice (father unaffected)\r\n2x unknown_inh PTCs\r\n\r\nOf the missense variants, G370E has 8 hets in gnomad v4\r\n\r\nThis gene is not constraint for LoF with 4 hets with an NMD variant in gnomad v4 \r\nSources: Literature","entity_name":"LEO1","entity_type":"gene"},{"created":"2024-08-01T16:48:25.123863+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.76","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37696499, 29987015; Phenotypes: Bone marrow failure syndrome 2 MIM#615715; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC6L2","entity_type":"gene"},{"created":"2024-08-01T16:39:48.424908+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1911","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: LEO1 as ready","entity_name":"LEO1","entity_type":"gene"},{"created":"2024-08-01T16:39:48.396147+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1911","user_name":"Ain Roesley","item_type":"entity","text":"Gene: leo1 has been classified as Amber List (Moderate Evidence).","entity_name":"LEO1","entity_type":"gene"},{"created":"2024-08-01T16:39:39.385450+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1911","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: LEO1 as Amber List (moderate evidence)","entity_name":"LEO1","entity_type":"gene"},{"created":"2024-08-01T16:39:39.368180+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1911","user_name":"Ain Roesley","item_type":"entity","text":"Gene: leo1 has been classified as Amber List (Moderate Evidence).","entity_name":"LEO1","entity_type":"gene"},{"created":"2024-08-01T16:39:05.120847+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1910","user_name":"Ain Roesley","item_type":"entity","text":"gene: LEO1 was added\ngene: LEO1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LEO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LEO1 were set to 38965372\nPhenotypes for gene: LEO1 were set to neurodevelopmental disorder MONDO:0700092, LEO-1 related\nReview for gene: LEO1 was set to AMBER\ngene: LEO1 was marked as current diagnostic\nAdded comment: enrichment of a neurodev cohort\r\nLEO1:\r\n8x de novo – 6x missense + 2x PTC\r\n1x pat splice\r\n2x unknown_inh PTCs\r\n\r\nOf the missense variants, G370E has 8 hets in gnomad v4\r\n\r\nThis gene is not constraint for LoF with 4 hets with an NMD variant in gnomad v4 \nSources: Literature","entity_name":"LEO1","entity_type":"gene"}]}