{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1197","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1195","results":[{"created":"2021-09-30T21:57:46.940939+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.176","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: RNASEH2B as Green List (high evidence)","entity_name":"RNASEH2B","entity_type":"gene"},{"created":"2021-09-30T21:57:46.912231+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.176","user_name":"Chirag Patel","item_type":"entity","text":"Gene: rnaseh2b has been classified as Green List (High Evidence).","entity_name":"RNASEH2B","entity_type":"gene"},{"created":"2021-09-30T21:57:31.808876+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.176","user_name":"Chirag Patel","item_type":"entity","text":"gene: RNASEH2A was added\ngene: RNASEH2A was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNASEH2A were set to PMID: 17846997\nPhenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome 4; OMIM #610333\nReview for gene: RNASEH2A was set to GREEN\nAdded comment: Aicardi-Goutieres syndrome is characterised by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic CSF lymphocytosis, and increased CSF alpha-interferon, and neurologic dysfunction (progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation), and often death in early childhood.\r\n\r\nRice et al. (2007) reported biallelic RNASEH2A mutations  in 3 families with AGS. \nSources: Literature","entity_name":"RNASEH2A","entity_type":"gene"},{"created":"2021-09-30T21:55:30.894769+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.175","user_name":"Chirag Patel","item_type":"entity","text":"gene: RNASEH2B was added\ngene: RNASEH2B was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNASEH2B were set to PMID: 17846997, 28762473\nPhenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome 2; OMIM #610181\nReview for gene: RNASEH2B was set to GREEN\nAdded comment: Aicardi-Goutieres syndrome is characterised by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic CSF lymphocytosis, and increased CSF alpha-interferon, and neurologic dysfunction (progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation), and often death in early childhood.\r\n\r\nRice et al. (2007) reported biallelic RNASEH2B mutations  in 47 families with AGS.\r\n\r\nSvingen et al. (2017) reported 2 siblings with atypical AGS with spastic quadriplegia, anarthria, preserved intellect, and increased iron signal in basal ganglia and homozygous RNASEH2B pathogenic variant. \nSources: Literature","entity_name":"RNASEH2B","entity_type":"gene"},{"created":"2021-09-30T21:48:52.130910+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.174","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TREX1 as Green List (high evidence)","entity_name":"TREX1","entity_type":"gene"},{"created":"2021-09-30T21:48:52.121681+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.174","user_name":"Chirag Patel","item_type":"entity","text":"Gene: trex1 has been classified as Green List (High Evidence).","entity_name":"TREX1","entity_type":"gene"},{"created":"2021-09-30T21:48:04.252317+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.173","user_name":"Chirag Patel","item_type":"entity","text":"gene: TREX1 was added\ngene: TREX1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TREX1 were set to PMID: 17846997, 33528536\nPhenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM #225750\nReview for gene: TREX1 was set to GREEN\nAdded comment: Aicardi-Goutieres syndrome is characterised by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic CSF lymphocytosis, and increased CSF alpha-interferon, and neurologic dysfunction (progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation), and often death in early childhood.\r\n\r\nRice et al. (2007) reported biallelic TREX1 mutations  in 31 families with AGS, and de novo heterozygous TREX1 mutation in 1 patient with AGS.\r\n\r\nMoreno-De-Luca et al. (2021) reported 1 patient with CP and paternally inherited pathogenic variant. \nSources: Literature","entity_name":"TREX1","entity_type":"gene"},{"created":"2021-09-30T20:29:22.772324+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.172","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TAF1 as Green List (high evidence)","entity_name":"TAF1","entity_type":"gene"},{"created":"2021-09-30T20:29:22.763976+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.172","user_name":"Chirag Patel","item_type":"entity","text":"Gene: taf1 has been classified as Green List (High Evidence).","entity_name":"TAF1","entity_type":"gene"},{"created":"2021-09-30T20:28:46.982569+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.171","user_name":"Chirag Patel","item_type":"entity","text":"gene: TAF1 was added\ngene: TAF1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: TAF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: TAF1 were set to PMID: 26637982, 33528536, 17273961\nPhenotypes for gene: TAF1 were set to Intellectual developmental disorder, X-linked syndromic 33, OMIM #300966; Dystonia-Parkinsonism, X-linked, OMIM #314250\nReview for gene: TAF1 was set to GREEN\nAdded comment: O'Rawe et al. (2015) reported 12 boys from 9 unrelated families with X-linked global developmental delay, intellectual disability, dysmorphism, generalized hypotonia, microcephaly and variable neurologic features (hypoplastic CC, spastic diplegia, dystonic movements, tremors).  They identified 9 different hemizygous mutations in TAF1 gene (most de novo, 3 maternally inherited). No functional studies. The mutations were found by WGS, WES, targeted panel and microarray, and all confirmed by Sanger sequencing.\r\n\r\nMoreno-De-Luca et al. (2021) reported 2 patients with CP and de novo LP variant.\r\n\r\nNote: X-linked dystonia-parkinsonism (XDP) is caused by an SVA (short interspersed nuclear element, variable number of tandem repeats, and Alu composite) retrotransposon insertion in intron 32 of TAF1, which encodes the largest component of the TFIID complex, and resulted in significantly decreased expression levels of TAF1 and the dopamine receptor D2 gene (DRD2) in the caudate nucleus. \nSources: Literature","entity_name":"TAF1","entity_type":"gene"},{"created":"2021-09-30T20:11:15.484233+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.170","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SPTAN1 as Green List (high evidence)","entity_name":"SPTAN1","entity_type":"gene"},{"created":"2021-09-30T20:11:15.475054+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.170","user_name":"Chirag Patel","item_type":"entity","text":"Gene: sptan1 has been classified as Green List (High Evidence).","entity_name":"SPTAN1","entity_type":"gene"},{"created":"2021-09-30T20:10:54.720135+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.169","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SPTAN1 as Green List (high evidence)","entity_name":"SPTAN1","entity_type":"gene"},{"created":"2021-09-30T20:10:54.710734+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.169","user_name":"Chirag Patel","item_type":"entity","text":"Gene: sptan1 has been classified as Green List (High Evidence).","entity_name":"SPTAN1","entity_type":"gene"},{"created":"2021-09-30T20:10:10.953575+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.168","user_name":"Chirag Patel","item_type":"entity","text":"gene: SPTAN1 was added\ngene: SPTAN1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPTAN1 were set to PMID: 20493457, 33528536, 34364746\nPhenotypes for gene: SPTAN1 were set to Developmental and epileptic encephalopathy 5; OMIM #613477\nReview for gene: SPTAN1 was set to GREEN\nAdded comment: Developmental and epileptic encephalopathy-5 (DEE5) is a neurologic disorder characterised by tonic seizures/infantile spasms in first months of life, global developmental delay, lack of visual attention, poor head control, feeding difficulties, microcephaly, and spastic quadriplegia. Brain imaging may show cerebral atrophy and hypomyelination.\r\n\r\nSaitsu et al (2010) reported 2 patients with de novo in-frame mutations of SPTAN1 with early-onset WS with spastic quadriplegia, poor visual attention, and severe developmental delay.\r\nMoreno-De-Luca et al (2021) reported 3 patients with CP with de novo LP/P variants.\r\nZahrani et al (2021) reported 1 patient with NDD (CP features) with de novo LP variant \nSources: Literature","entity_name":"SPTAN1","entity_type":"gene"},{"created":"2021-09-30T19:50:54.569495+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.167","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ZSWIM6 as Green List (high evidence)","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2021-09-30T19:50:54.560905+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.167","user_name":"Chirag Patel","item_type":"entity","text":"Gene: zswim6 has been classified as Green List (High Evidence).","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2021-09-30T19:50:31.276166+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.167","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ZSWIM6 as Green List (high evidence)","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2021-09-30T19:50:31.266476+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.167","user_name":"Chirag Patel","item_type":"entity","text":"Gene: zswim6 has been classified as Green List (High Evidence).","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2021-09-30T19:49:55.157747+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.166","user_name":"Chirag Patel","item_type":"entity","text":"gene: ZSWIM6 was added\ngene: ZSWIM6 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZSWIM6 were set to PMID: 29198722\nPhenotypes for gene: ZSWIM6 were set to Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, OMIM #617865\nReview for gene: ZSWIM6 was set to GREEN\nAdded comment: Palmer et al. (2017) reported 7 unrelated patients with neurodevelopmental disorder with movement abnormalities spasticity, abnormal gait, and autistic features. WES/WGS identified the same heterozygous R913X variant in exon 13 of ZSWIM6 gene (de novo in 6, unk in 1). The mutation was not found in gnomAD. Analysis of patient cells indicated that the mutant transcript escaped nonsense-mediated mRNA decay, and most likely produced a truncated protein, although antibody studies were unable to detect a truncated protein. \r\n\r\nNote: de novo missense variant within C-terminal Sin3-like domain of ZSWIM6 reported to cause acromelic frontonasal dysostosis (AFND), via a proposed gain-of-function effect. \nSources: Literature","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2021-09-30T17:49:12.816331+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1249","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMTC3 as ready","entity_name":"TMTC3","entity_type":"gene"},{"created":"2021-09-30T17:49:12.806194+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1249","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmtc3 has been classified as Green List (High Evidence).","entity_name":"TMTC3","entity_type":"gene"},{"created":"2021-09-30T17:49:09.075039+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1249","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMTC3 were changed from Lissencephaly 8 MIM#617255 to Lissencephaly 8, MIM#617255","entity_name":"TMTC3","entity_type":"gene"},{"created":"2021-09-30T17:48:41.928634+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1248","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMTC3 as Green List (high evidence)","entity_name":"TMTC3","entity_type":"gene"},{"created":"2021-09-30T17:48:41.916929+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1248","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmtc3 has been classified as Green List (High Evidence).","entity_name":"TMTC3","entity_type":"gene"},{"created":"2021-09-30T17:47:35.882759+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1247","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WDR26 as ready","entity_name":"WDR26","entity_type":"gene"},{"created":"2021-09-30T17:47:35.873872+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1247","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wdr26 has been classified as Green List (High Evidence).","entity_name":"WDR26","entity_type":"gene"},{"created":"2021-09-30T17:47:29.745369+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1247","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WDR26 as Green List (high evidence)","entity_name":"WDR26","entity_type":"gene"},{"created":"2021-09-30T17:47:29.735738+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1247","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wdr26 has been classified as Green List (High Evidence).","entity_name":"WDR26","entity_type":"gene"},{"created":"2021-09-30T17:46:22.078614+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1246","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZMYND11 as ready","entity_name":"ZMYND11","entity_type":"gene"},{"created":"2021-09-30T17:46:22.067585+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1246","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zmynd11 has been classified as Green List (High Evidence).","entity_name":"ZMYND11","entity_type":"gene"},{"created":"2021-09-30T17:46:16.972208+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1246","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZMYND11 as Green List (high evidence)","entity_name":"ZMYND11","entity_type":"gene"},{"created":"2021-09-30T17:46:16.962107+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1246","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zmynd11 has been classified as Green List (High Evidence).","entity_name":"ZMYND11","entity_type":"gene"},{"created":"2021-09-30T17:44:37.040384+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2021-09-30T17:44:04.611905+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9285","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTPRC as ready","entity_name":"PTPRC","entity_type":"gene"},{"created":"2021-09-30T17:44:04.600928+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9285","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptprc has been classified as Green List (High Evidence).","entity_name":"PTPRC","entity_type":"gene"},{"created":"2021-09-30T17:43:55.849970+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9285","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTPRC were changed from  to Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971; Hepatitis C virus, susceptibility to MIM# 609532","entity_name":"PTPRC","entity_type":"gene"},{"created":"2021-09-30T17:43:30.901101+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9284","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PTPRC were set to ","entity_name":"PTPRC","entity_type":"gene"},{"created":"2021-09-30T17:43:11.201788+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9283","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PTPRC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PTPRC","entity_type":"gene"},{"created":"2021-09-30T17:42:51.342072+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9282","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PTPRC: Rating: GREEN; Mode of pathogenicity: None; Publications: 11145714, 12073144, 22689986, 10700239; Phenotypes: Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971, Hepatitis C virus, susceptibility to MIM# 609532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PTPRC","entity_type":"gene"},{"created":"2021-09-30T17:41:41.026574+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTPRC as ready","entity_name":"PTPRC","entity_type":"gene"},{"created":"2021-09-30T17:41:41.016261+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptprc has been classified as Green List (High Evidence).","entity_name":"PTPRC","entity_type":"gene"},{"created":"2021-09-30T17:41:38.501682+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTPRC were changed from  to Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971; Hepatitis C virus, susceptibility to MIM# 609532","entity_name":"PTPRC","entity_type":"gene"},{"created":"2021-09-30T17:41:14.982960+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PTPRC were set to ","entity_name":"PTPRC","entity_type":"gene"},{"created":"2021-09-30T17:40:44.692508+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PTPRC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PTPRC","entity_type":"gene"},{"created":"2021-09-30T17:39:45.177306+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: JAK3 as ready","entity_name":"JAK3","entity_type":"gene"},{"created":"2021-09-30T17:39:45.165854+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jak3 has been classified as Green List (High Evidence).","entity_name":"JAK3","entity_type":"gene"},{"created":"2021-09-30T17:39:30.699140+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: JAK3 were changed from  to SCID, autosomal recessive, T-negative/B-positive type MIM# 600802","entity_name":"JAK3","entity_type":"gene"},{"created":"2021-09-30T17:38:57.446188+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: JAK3 were set to ","entity_name":"JAK3","entity_type":"gene"},{"created":"2021-09-30T17:38:22.814365+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: JAK3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"JAK3","entity_type":"gene"},{"created":"2021-09-30T17:36:55.043470+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IL7R as ready","entity_name":"IL7R","entity_type":"gene"},{"created":"2021-09-30T17:36:55.024527+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: il7r has been classified as Green List (High Evidence).","entity_name":"IL7R","entity_type":"gene"},{"created":"2021-09-30T17:36:52.606575+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IL7R were changed from  to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971; low T-cell numbers; normal-high B and NK-cell numbers; fever; rash; failure to thrive; recurrent respiratory and gastric infections; Hepatomegaly; Splenomegaly; diarrhoea; lymphadenopathy; pneumonitis; Pancytopaenia; decreased immunoglobulins","entity_name":"IL7R","entity_type":"gene"},{"created":"2021-09-30T17:36:29.513310+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IL7R were set to ","entity_name":"IL7R","entity_type":"gene"},{"created":"2021-09-30T17:31:21.910288+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IL7R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IL7R","entity_type":"gene"},{"created":"2021-09-30T17:30:31.674841+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9282","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CORO1A as ready","entity_name":"CORO1A","entity_type":"gene"},{"created":"2021-09-30T17:30:31.665243+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9282","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: coro1a has been classified as Green List (High Evidence).","entity_name":"CORO1A","entity_type":"gene"},{"created":"2021-09-30T17:30:25.225590+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9282","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CORO1A were changed from  to Immunodeficiency 8, MIM# 615401","entity_name":"CORO1A","entity_type":"gene"},{"created":"2021-09-30T17:30:02.541511+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9281","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CORO1A were set to ","entity_name":"CORO1A","entity_type":"gene"},{"created":"2021-09-30T17:29:41.261376+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9280","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CORO1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CORO1A","entity_type":"gene"},{"created":"2021-09-30T17:29:03.094047+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CORO1A as ready","entity_name":"CORO1A","entity_type":"gene"},{"created":"2021-09-30T17:29:03.081658+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: coro1a has been classified as Green List (High Evidence).","entity_name":"CORO1A","entity_type":"gene"},{"created":"2021-09-30T17:29:00.771879+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CORO1A were changed from  to Immunodeficiency 8, MIM# 615401","entity_name":"CORO1A","entity_type":"gene"},{"created":"2021-09-30T17:28:35.094503+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CORO1A were set to ","entity_name":"CORO1A","entity_type":"gene"},{"created":"2021-09-30T17:28:10.445538+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CORO1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CORO1A","entity_type":"gene"},{"created":"2021-09-30T17:26:44.400324+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9279","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POU6F2 as ready","entity_name":"POU6F2","entity_type":"gene"},{"created":"2021-09-30T17:26:44.395236+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9279","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: No evidence for association with Mendelian disease.","entity_name":"POU6F2","entity_type":"gene"},{"created":"2021-09-30T17:26:44.360336+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9279","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pou6f2 has been classified as Red List (Low Evidence).","entity_name":"POU6F2","entity_type":"gene"},{"created":"2021-09-30T17:26:27.400298+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9279","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POU6F2 as Red List (low evidence)","entity_name":"POU6F2","entity_type":"gene"},{"created":"2021-09-30T17:26:27.392181+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9279","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pou6f2 has been classified as Red List (Low Evidence).","entity_name":"POU6F2","entity_type":"gene"},{"created":"2021-09-30T15:18:40.302633+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1245","user_name":"Danielle Ariti","item_type":"entity","text":"gene: TMTC3 was added\ngene: TMTC3 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: TMTC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMTC3 were set to 27773428; 28973161; 32973946\nPhenotypes for gene: TMTC3 were set to Lissencephaly 8 MIM#617255\nReview for gene: TMTC3 was set to GREEN\nAdded comment: 14 individuals from 8 unrelated families reported with bi-allelic LoF (frameshift, deletion, insertion) and missense variants.\r\n\r\nLissencephaly-8 is a neurologic disorder characterised by delayed psychomotor development, ID with poor/absent speech, early-onset refractory seizures, hypotonia and appendicular spasticity.\r\n\r\nSeizures are considered a prominent phenotype: 6/9 patients developed refractory generalised or myoclonic seizures in infancy (PMID: 27773428) and in a reported family all four affected siblings presented with nocturnal seizures and ID (PMID: 28973161). \nSources: Expert list","entity_name":"TMTC3","entity_type":"gene"},{"created":"2021-09-30T14:32:04.573384+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1245","user_name":"Danielle Ariti","item_type":"entity","text":"gene: WDR26 was added\ngene: WDR26 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: WDR26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WDR26 were set to 28686853; 33675273\nPhenotypes for gene: WDR26 were set to Skraban-Deardorff syndrome MIM# 617616\nReview for gene: WDR26 was set to GREEN\nAdded comment: 20 individuals have been reported (only 17 with a clinical description available).\r\n\r\nAll mono-allelic variants reported were de novo; most variants were LoF (frameshift, nonsense, splice site, deletion) but some were missense. \r\n\r\nSkraban-Deardorff syndrome is a neurodevelopmental disorder characterised by a broad range of clinical signs, including ID/DD, febrile and/or non-febrile seizures, abnormal facial features, feeding difficulties, and minor skeletal anomalies (Spastic gait). \r\n\r\nPMID: 28686853- Reported 15 individuals with pathogenic de novo WDR26 variants. 15/15 patients presented with both ID and seizures. \nSources: Expert list","entity_name":"WDR26","entity_type":"gene"},{"created":"2021-09-30T12:19:50.744915+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1245","user_name":"Danielle Ariti","item_type":"entity","text":"gene: ZMYND11 was added\ngene: ZMYND11 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: ZMYND11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZMYND11 were set to 32097528; 34216016\nPhenotypes for gene: ZMYND11 were set to Mental retardation, autosomal dominant 30 MIM# 616083\nReview for gene: ZMYND11 was set to GREEN\nAdded comment: ZMYND11 variants are associated with a neurodevelopmental disorder, MRD30 that is characterised by developmental delay, particularly affecting speech, mild‐moderate intellectual disability, significant behavioural abnormalities, seizures, and hypotonia.\r\n* Most identified variants are likely to result in premature truncation and/or nonsense‐mediated decay.\r\n\r\nPMID: 34216016- Study of individuals with pathogenic ZMYND11 variants, 20/47 individuals presented with epilepsy (idiopathic focal epilepsy, Rolandic epilepsy, generalised epilepsies, Atypical Benign Partial Epilepsy etc).\r\n\r\nPMID: 32097528- Study of 16 patients with ZMYND11-related syndromic intellectual disability, 31% presented with epilepsy. \nSources: Expert list","entity_name":"ZMYND11","entity_type":"gene"},{"created":"2021-09-30T11:57:42.472177+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4154","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDH15: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"CDH15","entity_type":"gene"},{"created":"2021-09-30T11:57:21.969102+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9278","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDH15 as ready","entity_name":"CDH15","entity_type":"gene"},{"created":"2021-09-30T11:57:21.954370+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9278","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdh15 has been classified as Red List (Low Evidence).","entity_name":"CDH15","entity_type":"gene"},{"created":"2021-09-30T11:57:14.220664+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9278","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDH15 were changed from  to Mental retardation, autosomal dominant 3, MIM#612580","entity_name":"CDH15","entity_type":"gene"},{"created":"2021-09-30T11:56:54.417079+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9277","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDH15 were set to ","entity_name":"CDH15","entity_type":"gene"},{"created":"2021-09-30T11:56:33.743077+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9276","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CDH15 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDH15","entity_type":"gene"},{"created":"2021-09-30T11:56:16.350231+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9275","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDH15 as Red List (low evidence)","entity_name":"CDH15","entity_type":"gene"},{"created":"2021-09-30T11:56:16.340892+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9275","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdh15 has been classified as Red List (Low Evidence).","entity_name":"CDH15","entity_type":"gene"},{"created":"2021-09-30T11:55:57.758771+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9274","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: CDH15.","entity_name":"CDH15","entity_type":"gene"},{"created":"2021-09-30T11:55:44.894826+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9274","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: CDH15: PMID: 19012874 - 4 unrelated patients with missense variants and mild-severe ID. Only two genes checked. All variants are common in gnomAD (>20 hets each) and classified as VUS or likely benign in ClinVar (paper is from 2008, pre-dates gnomAD). Functional studies were performed showing a LOF effect, where cell adhesion was reduced. \r\nHowever NMD PTCs are present in gnomAD (many >=6 hets each)\r\n\r\nPMID: 12052883 - null mouse model were viable, showed no gross developmental defects. In particular, the skeletal musculature appeared essentially normal. In the cerebellum of M-cadherin-lacking mutants, typical contactus adherens junctions were present and similar in size and numbers to the equivalent junctions in wild-type animals. However, the adhesion plaques in the cerebellum of these mutants appeared to contain elevated levels of N-cadherin compared to wild-type animals.\r\n\r\nPMID: 28422132 - reviewed microdeletions spanning multiple genes including CDH15, suggests it may contribute to a more severe neurological phenotype, with particular regard to brain malformations.\r\n\r\nPMID: 26506440 - speculates low penetrance for PTCs in this gene. Acknowledges variants in ExAC, describes them as benign\r\n\r\nNote no P/LP variants in ClinVar","entity_name":"CDH15","entity_type":"gene"},{"created":"2021-09-30T11:55:14.148859+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9274","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDH15: Rating: RED; Mode of pathogenicity: None; Publications: 19012874, 12052883, 28422132, 26506440; Phenotypes: Mental retardation, autosomal dominant 3, MIM#612580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDH15","entity_type":"gene"},{"created":"2021-09-30T11:54:27.576915+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4154","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDH15 as ready","entity_name":"CDH15","entity_type":"gene"},{"created":"2021-09-30T11:54:27.565146+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4154","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdh15 has been classified as Red List (Low Evidence).","entity_name":"CDH15","entity_type":"gene"},{"created":"2021-09-30T11:54:22.627812+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4154","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDH15 were changed from  to Mental retardation, autosomal dominant 3 MIM#612580","entity_name":"CDH15","entity_type":"gene"},{"created":"2021-09-30T11:53:47.991732+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4153","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDH15 were set to ","entity_name":"CDH15","entity_type":"gene"},{"created":"2021-09-30T11:35:34.586607+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.34","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: PTPRC: Rating: GREEN; Mode of pathogenicity: None; Publications: 11145714, 12073144, 22689986, 10700239; Phenotypes: Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971, Hepatitis C virus, susceptibility to MIM# 609532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PTPRC","entity_type":"gene"},{"created":"2021-09-30T11:04:01.261806+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9274","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: JAK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 14615376, 11668610; Phenotypes: SCID, autosomal recessive, T-negative/B-positive type MIM# 600802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"JAK3","entity_type":"gene"},{"created":"2021-09-30T11:02:27.818351+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.34","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: JAK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 14615376, 11668610; Phenotypes: SCID, autosomal recessive, T-negative/B-positive type MIM# 600802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"JAK3","entity_type":"gene"},{"created":"2021-09-30T10:22:46.172143+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9274","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: CORO1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25073507, 2352248, 18836449; Phenotypes: Immunodeficiency 8 MIM#  615401; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CORO1A","entity_type":"gene"},{"created":"2021-09-30T10:19:55.576333+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.34","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: CORO1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25073507, 2352248, 18836449; Phenotypes: Immunodeficiency 8 MIM#  615401; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CORO1A","entity_type":"gene"},{"created":"2021-09-30T09:55:58.675526+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9274","user_name":"Chloe Stutterd","item_type":"entity","text":"reviewed gene: POU6F2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"POU6F2","entity_type":"gene"},{"created":"2021-09-30T09:53:06.525162+10:00","panel_name":"Vasculopathy SuperPanel","panel_id":3731,"panel_version":"1.1","user_name":"Bryony Thompson","item_type":"panel","text":"Panel status changed from internal to public","entity_name":null,"entity_type":null},{"created":"2021-09-30T09:30:24.859544+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4152","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CDH15 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDH15","entity_type":"gene"},{"created":"2021-09-30T09:29:52.822657+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4151","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: CDH15.","entity_name":"CDH15","entity_type":"gene"},{"created":"2021-09-30T09:29:43.495084+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4151","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDH15 as Red List (low evidence)","entity_name":"CDH15","entity_type":"gene"},{"created":"2021-09-30T09:29:43.479648+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4151","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdh15 has been classified as Red List (Low Evidence).","entity_name":"CDH15","entity_type":"gene"},{"created":"2021-09-30T09:24:37.822381+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FGF8 as ready","entity_name":"FGF8","entity_type":"gene"}]}