{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=438","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=436","results":[{"created":"2024-06-05T11:15:27.576925+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.92","user_name":"Ain Roesley","item_type":"entity","text":"Gene: flt3lg has been classified as Red List (Low Evidence).","entity_name":"FLT3LG","entity_type":"gene"},{"created":"2024-06-05T11:15:23.613607+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1819","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: FLT3LG as ready","entity_name":"FLT3LG","entity_type":"gene"},{"created":"2024-06-05T11:15:23.599070+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1819","user_name":"Ain Roesley","item_type":"entity","text":"Gene: flt3lg has been classified as Red List (Low Evidence).","entity_name":"FLT3LG","entity_type":"gene"},{"created":"2024-06-05T11:15:01.638739+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.92","user_name":"Ain Roesley","item_type":"entity","text":"gene: FLT3LG was added\ngene: FLT3LG was added to Bone Marrow Failure. Sources: Literature\nMode of inheritance for gene: FLT3LG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FLT3LG were set to 38701783\nPhenotypes for gene: FLT3LG were set to Increased susceptibility to infections\nReview for gene: FLT3LG was set to RED\ngene: FLT3LG was marked as current diagnostic\nAdded comment: 3x sibs from a consanguineous family with a homozygous frameshift variant p.(Ser118Alafs*23) \r\nrecurrent infections and hypoplastic bone marrow with marked reduction in HPSCs\r\nKO mice recapitulated BM findings\r\n\r\nover a period of 5 (P1), 9 (P2), and 19 (P3) years of follow-up, all 3 were found to have moderate anaemia.\r\nTotal platelet counts and morphology decreased in 2 siblings.\r\nTotal WBC oscillated between low and normal\r\nEosinophils, basophils were in normal range\r\nNeutrophils were in the lower part of the control range, ocassiannly lower\r\ntotal lymphocyte counts were normal \nSources: Literature","entity_name":"FLT3LG","entity_type":"gene"},{"created":"2024-06-05T11:14:35.254694+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1819","user_name":"Ain Roesley","item_type":"entity","text":"gene: FLT3LG was added\ngene: FLT3LG was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FLT3LG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FLT3LG were set to 38701783\nPhenotypes for gene: FLT3LG were set to Increased susceptibility to infections\nReview for gene: FLT3LG was set to RED\ngene: FLT3LG was marked as current diagnostic\nAdded comment: 3x sibs from a consanguineous family with a homozygous frameshift variant p.(Ser118Alafs*23) \r\nrecurrent infections and hypoplastic bone marrow with marked reduction in HPSCs\r\nKO mice recapitulated BM findings\r\n\r\nover a period of 5 (P1), 9 (P2), and 19 (P3) years of follow-up, all 3 were found to have moderate anaemia.\r\nTotal platelet counts and morphology decreased in 2 siblings.\r\nTotal WBC oscillated between low and normal\r\nEosinophils, basophils were in normal range\r\nNeutrophils were in the lower part of the control range, ocassiannly lower\r\ntotal lymphocyte counts were normal \nSources: Literature","entity_name":"FLT3LG","entity_type":"gene"},{"created":"2024-06-05T10:37:48.354013+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1818","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: TIE1 as Green List (high evidence)","entity_name":"TIE1","entity_type":"gene"},{"created":"2024-06-05T10:37:48.328933+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1818","user_name":"Ain Roesley","item_type":"entity","text":"Gene: tie1 has been classified as Green List (High Evidence).","entity_name":"TIE1","entity_type":"gene"},{"created":"2024-06-05T10:37:44.573014+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1818","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: TIE1 were set to 32947856; 24764452","entity_name":"TIE1","entity_type":"gene"},{"created":"2024-06-05T10:35:27.147816+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1817","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: TIE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38820174; Phenotypes: Lymphatic malformation 11, MIM# 619401; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"TIE1","entity_type":"gene"},{"created":"2024-06-05T10:03:52.338632+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1817","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: MSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38815585, 38702431; Phenotypes: MSL2-Related Developmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MSL2","entity_type":"gene"},{"created":"2024-06-05T10:03:09.898185+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6032","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: MSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38815585, 38702431; Phenotypes: MSL2-Related Developmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MSL2","entity_type":"gene"},{"created":"2024-06-05T09:42:49.713609+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1817","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: PISD: Rating: GREEN; Mode of pathogenicity: None; Publications: 38801004; Phenotypes: Liberfarb syndrome MONDO:0030045; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PISD","entity_type":"gene"},{"created":"2024-06-05T09:42:15.155363+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.277","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: PISD: Rating: GREEN; Mode of pathogenicity: None; Publications: 38801004; Phenotypes: Liberfarb syndrome MONDO:0030045; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PISD","entity_type":"gene"},{"created":"2024-06-05T09:17:44.791854+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1817","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ATXN7L3 as Green List (high evidence)","entity_name":"ATXN7L3","entity_type":"gene"},{"created":"2024-06-05T09:17:44.775691+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1817","user_name":"Chirag Patel","item_type":"entity","text":"Gene: atxn7l3 has been classified as Green List (High Evidence).","entity_name":"ATXN7L3","entity_type":"gene"},{"created":"2024-06-05T09:17:17.928414+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1816","user_name":"Chirag Patel","item_type":"entity","text":"gene: ATXN7L3 was added\ngene: ATXN7L3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ATXN7L3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATXN7L3 were set to PMID: 38753057\nPhenotypes for gene: ATXN7L3 were set to Neurodevelopmental disorder, MONDO_0100500\nReview for gene: ATXN7L3 was set to GREEN\ngene: ATXN7L3 was marked as current diagnostic\nAdded comment: This study reports 9 unrelated individuals with de novo heterozygous variants in ATXN7L3 identified through WES testing and GeneMatcher. Core clinical features included: global motor and language developmental delay, hypotonia, and dysmorphic features (hypertelorism, epicanthal folds, blepharoptosis, small nose, small mouth, and low-set posteriorly rotated ears). Variable features included: feeding difficulties, seizures, mild periventricular leukomalacia, and structural cardiac abnormalities.\r\n\r\nA recurrent nonsense variant [p.(Arg114Ter)] was found in 5/9 individuals. The other variants were 1 frameshift [p.(Ser112LysfsTer12)] and 3 missense variants [p.(Ile71Thr), p.(Ser92Arg), and p.(Leu106Pro)]. They investigated the effects of the recurrent nonsense variant [p.(Arg114Ter)] in fibroblasts of an affected individual. ATXN7L3 protein levels were reduced, and deubiquitylation was impaired (as indicated by an increase in histone H2Bub1 levels). This is consistent with the previous observation of increased H2Bub1 levels in Atxn7l3-null mouse embryos, which have developmental delay and embryonic lethality.\r\n\r\nPathogenic variants in deubiquitinating enzymes (DUBs) have been implicated in neurodevelopmental disorders (ND) and congenital abnormalities. ATXN7L3 is a component of the DUB module of the SAGA complex, and two other related DUB modules, and serves as an obligate adaptor protein of 3 ubiquitin-specific proteases (USP22, USP27X or USP51). \nSources: Literature","entity_name":"ATXN7L3","entity_type":"gene"},{"created":"2024-06-05T09:16:07.663948+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1815","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: FAM177A1 as Green List (high evidence)","entity_name":"FAM177A1","entity_type":"gene"},{"created":"2024-06-05T09:16:07.651211+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1815","user_name":"Chirag Patel","item_type":"entity","text":"Gene: fam177a1 has been classified as Green List (High Evidence).","entity_name":"FAM177A1","entity_type":"gene"},{"created":"2024-06-05T09:15:44.370779+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1814","user_name":"Chirag Patel","item_type":"entity","text":"gene: FAM177A1 was added\ngene: FAM177A1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FAM177A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM177A1 were set to PMID: 38767059, 25558065\nPhenotypes for gene: FAM177A1 were set to Neurodevelopmental disorder, MONDO_0100500\nReview for gene: FAM177A1 was set to GREEN\ngene: FAM177A1 was marked as current diagnostic\nAdded comment: PMID: 38767059\r\n5 individuals from 3 unrelated families reported with with biallelic loss of function variants in FAM177A1. Clinical features included: global developmental delay, intellectual disability, seizures, behavioural abnormalities, hypotonia, gait disturbance, and macrocephaly.\r\n\r\nThey showed that FAM177A1 localizes to the Golgi complex in mammalian and zebrafish cells. Intersection of the RNA-seq and metabolomic datasets from FAM177A1-deficient human fibroblasts and whole zebrafish larvae demonstrated dysregulation of pathways associated with apoptosis, inflammation, and negative regulation of cell proliferation.\r\n\r\nPMID: 25558065\r\nA study of 143 multiplex consanguineous families identified a homozygous frameshift variant in FAM177A1 in 1 family with 4 affected siblings with intellectual disability, dolicocephaly, obesity, and macrocephaly. The variant segregated with all 4 affected siblings and parents were confirmed heterozygous carriers. \nSources: Literature","entity_name":"FAM177A1","entity_type":"gene"},{"created":"2024-06-05T09:14:43.620015+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1813","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: ERF: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38824261; Phenotypes: Noonan syndrome-like with or without craniosynostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"ERF","entity_type":"gene"},{"created":"2024-06-05T09:14:11.382201+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1813","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: SLC6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38781976; Phenotypes: myoclonic-atonic epilepsy MONDO:0014633; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SLC6A1","entity_type":"gene"},{"created":"2024-06-05T09:05:03.246916+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.277","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: FUZ as Green List (high evidence)","entity_name":"FUZ","entity_type":"gene"},{"created":"2024-06-05T09:05:03.229200+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.277","user_name":"Chirag Patel","item_type":"entity","text":"Gene: fuz has been classified as Green List (High Evidence).","entity_name":"FUZ","entity_type":"gene"},{"created":"2024-06-05T09:04:40.454910+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.276","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: FUZ as Green List (high evidence)","entity_name":"FUZ","entity_type":"gene"},{"created":"2024-06-05T09:04:40.429405+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.276","user_name":"Chirag Patel","item_type":"entity","text":"Gene: fuz has been classified as Green List (High Evidence).","entity_name":"FUZ","entity_type":"gene"},{"created":"2024-06-05T09:04:31.763261+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.220","user_name":"Chirag Patel","item_type":"entity","text":"gene: FUZ was added\ngene: FUZ was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: FUZ was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FUZ were set to PMID: 38702430, 29068549, 34719684\nPhenotypes for gene: FUZ were set to Ciliopathy_MONDO_0005308; skeletal ciliopathy\nReview for gene: FUZ was set to GREEN\ngene: FUZ was marked as current diagnostic\nAdded comment: FUZ is crucial for the transport of components to the primary cilium and potentially promotes protein complex assembly necessary for downstream cilium formation and function. Previous studies have shown complete knockout of Fuz in a mouse model leads to prenatal lethality, coronal craniosynostosis, micrognathia, facial malformations, eye, and heart defects. Suggested as a skeletal ciliopathy disorder gene.\r\n\r\nPMID: 38702430\r\n1 individual (from family with 2 affecteds) with orofaciodigital syndrome like phenotype (dysmorphism, bilateral foot preaxial polysyndactyly, right foot postaxial polysyndactyly, broad thumbs, bilateral 5th finger clinodactyly narrow chest, partial AVSD). They found a homozygous missense variant in FUZ [p.(Glu201Lys)]. Parents were heterozygous carriers. A sibling died at 18mths and had complete AVSD, bilateral cleft lip and palate, right 5th finger clinodactyly, and medially deviated/broad great toes.\r\n\r\n1 fetus with orofaciodigital syndrome like phenotype (right cleft lip, 4 limb polydactyly, bilateral duplicated hallux, and AVSD). They found compound heterozygous variants in FUZ [p.(Val209_Leu212del) and p.(Glu201Lys)].\r\n\r\nPMID: 29068549\r\n1 fetus with lethal short-rib polydactyly syndrome II-like phenotype and a homozygous variant (c.98_111+9del) in FUZ.\r\n1 individual with asphyxiating thoracic dystrophy (ATD) with polydactyly and a (unclear if homozygous) missense variant [p.(Arg284Leu)] in FUZ.\r\n\r\nPMID: 34719684\r\nMonozygotic twins with craniosynostosis (1 x metopic, 1 x metopic/coronal) and a homozygous missense variant in FUZ [p.(Arg284Pro)]. They cultured primary osteoblasts and mouse embryonic fibroblasts from Fuz mutant mice. Loss of Fuz resulted in increased osteoblastic mineralisation, suggesting that the FUZ protein normally acts as a negative regulator of osteogenesis. \nSources: Literature","entity_name":"FUZ","entity_type":"gene"},{"created":"2024-06-05T09:04:19.782790+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.276","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: FUZ as Green List (high evidence)","entity_name":"FUZ","entity_type":"gene"},{"created":"2024-06-05T09:04:19.751469+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.276","user_name":"Chirag Patel","item_type":"entity","text":"Gene: fuz has been classified as Green List (High Evidence).","entity_name":"FUZ","entity_type":"gene"},{"created":"2024-06-05T09:04:05.215582+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.220","user_name":"Chirag Patel","item_type":"entity","text":"gene: FUZ was added\ngene: FUZ was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: FUZ was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FUZ were set to PMID: 38702430, 29068549, 34719684\nPhenotypes for gene: FUZ were set to Ciliopathy_MONDO_0005308; skeletal ciliopathy\nReview for gene: FUZ was set to GREEN\ngene: FUZ was marked as current diagnostic\nAdded comment: FUZ is crucial for the transport of components to the primary cilium and potentially promotes protein complex assembly necessary for downstream cilium formation and function. Previous studies have shown complete knockout of Fuz in a mouse model leads to prenatal lethality, coronal craniosynostosis, micrognathia, facial malformations, eye, and heart defects. Suggested as a skeletal ciliopathy disorder gene.\r\n\r\nPMID: 38702430\r\n1 individual (from family with 2 affecteds) with orofaciodigital syndrome like phenotype (dysmorphism, bilateral foot preaxial polysyndactyly, right foot postaxial polysyndactyly, broad thumbs, bilateral 5th finger clinodactyly narrow chest, partial AVSD). They found a homozygous missense variant in FUZ [p.(Glu201Lys)]. Parents were heterozygous carriers. A sibling died at 18mths and had complete AVSD, bilateral cleft lip and palate, right 5th finger clinodactyly, and medially deviated/broad great toes.\r\n\r\n1 fetus with orofaciodigital syndrome like phenotype (right cleft lip, 4 limb polydactyly, bilateral duplicated hallux, and AVSD). They found compound heterozygous variants in FUZ [p.(Val209_Leu212del) and p.(Glu201Lys)].\r\n\r\nPMID: 29068549\r\n1 fetus with lethal short-rib polydactyly syndrome II-like phenotype and a homozygous variant (c.98_111+9del) in FUZ.\r\n1 individual with asphyxiating thoracic dystrophy (ATD) with polydactyly and a (unclear if homozygous) missense variant [p.(Arg284Leu)] in FUZ.\r\n\r\nPMID: 34719684\r\nMonozygotic twins with craniosynostosis (1 x metopic, 1 x metopic/coronal) and a homozygous missense variant in FUZ [p.(Arg284Pro)]. They cultured primary osteoblasts and mouse embryonic fibroblasts from Fuz mutant mice. Loss of Fuz resulted in increased osteoblastic mineralisation, suggesting that the FUZ protein normally acts as a negative regulator of osteogenesis. \nSources: Literature","entity_name":"FUZ","entity_type":"gene"},{"created":"2024-06-05T09:03:42.437564+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.276","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: FUZ as Green List (high evidence)","entity_name":"FUZ","entity_type":"gene"},{"created":"2024-06-05T09:03:42.420607+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.276","user_name":"Chirag Patel","item_type":"entity","text":"Gene: fuz has been classified as Green List (High Evidence).","entity_name":"FUZ","entity_type":"gene"},{"created":"2024-06-05T09:03:28.122934+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.220","user_name":"Chirag Patel","item_type":"entity","text":"gene: FUZ was added\ngene: FUZ was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: FUZ was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FUZ were set to PMID: 38702430, 29068549, 34719684\nPhenotypes for gene: FUZ were set to Ciliopathy_MONDO_0005308; skeletal ciliopathy\nReview for gene: FUZ was set to GREEN\ngene: FUZ was marked as current diagnostic\nAdded comment: FUZ is crucial for the transport of components to the primary cilium and potentially promotes protein complex assembly necessary for downstream cilium formation and function. Previous studies have shown complete knockout of Fuz in a mouse model leads to prenatal lethality, coronal craniosynostosis, micrognathia, facial malformations, eye, and heart defects. Suggested as a skeletal ciliopathy disorder gene.\r\n\r\nPMID: 38702430\r\n1 individual (from family with 2 affecteds) with orofaciodigital syndrome like phenotype (dysmorphism, bilateral foot preaxial polysyndactyly, right foot postaxial polysyndactyly, broad thumbs, bilateral 5th finger clinodactyly narrow chest, partial AVSD). They found a homozygous missense variant in FUZ [p.(Glu201Lys)]. Parents were heterozygous carriers. A sibling died at 18mths and had complete AVSD, bilateral cleft lip and palate, right 5th finger clinodactyly, and medially deviated/broad great toes.\r\n\r\n1 fetus with orofaciodigital syndrome like phenotype (right cleft lip, 4 limb polydactyly, bilateral duplicated hallux, and AVSD). They found compound heterozygous variants in FUZ [p.(Val209_Leu212del) and p.(Glu201Lys)].\r\n\r\nPMID: 29068549\r\n1 fetus with lethal short-rib polydactyly syndrome II-like phenotype and a homozygous variant (c.98_111+9del) in FUZ.\r\n1 individual with asphyxiating thoracic dystrophy (ATD) with polydactyly and a (unclear if homozygous) missense variant [p.(Arg284Leu)] in FUZ.\r\n\r\nPMID: 34719684\r\nMonozygotic twins with craniosynostosis (1 x metopic, 1 x metopic/coronal) and a homozygous missense variant in FUZ [p.(Arg284Pro)]. They cultured primary osteoblasts and mouse embryonic fibroblasts from Fuz mutant mice. Loss of Fuz resulted in increased osteoblastic mineralisation, suggesting that the FUZ protein normally acts as a negative regulator of osteogenesis. \nSources: Literature","entity_name":"FUZ","entity_type":"gene"},{"created":"2024-06-05T09:01:31.440423+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.275","user_name":"Chirag Patel","item_type":"entity","text":"gene: FUZ was added\ngene: FUZ was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: FUZ was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FUZ were set to PMID: 38702430, 29068549, 34719684\nPhenotypes for gene: FUZ were set to Ciliopathy_MONDO_0005308; skeletal ciliopathy\nReview for gene: FUZ was set to GREEN\ngene: FUZ was marked as current diagnostic\nAdded comment: FUZ is crucial for the transport of components to the primary cilium and potentially promotes protein complex assembly necessary for downstream cilium formation and function. Previous studies have shown complete knockout of Fuz in a mouse model leads to prenatal lethality, coronal craniosynostosis, micrognathia, facial malformations, eye, and heart defects. Suggested as a skeletal ciliopathy disorder gene.\r\n\r\nPMID: 38702430\r\n1 individual (from family with 2 affecteds) with orofaciodigital syndrome like phenotype (dysmorphism, bilateral foot preaxial polysyndactyly, right foot postaxial polysyndactyly, broad thumbs, bilateral 5th finger clinodactyly narrow chest, partial AVSD). They found a homozygous missense variant in FUZ [p.(Glu201Lys)]. Parents were heterozygous carriers. A sibling died at 18mths and had complete AVSD, bilateral cleft lip and palate, right 5th finger clinodactyly, and medially deviated/broad great toes.\r\n\r\n1 fetus with orofaciodigital syndrome like phenotype (right cleft lip, 4 limb polydactyly, bilateral duplicated hallux, and AVSD). They found compound heterozygous variants in FUZ [p.(Val209_Leu212del) and p.(Glu201Lys)].\r\n\r\nPMID: 29068549\r\n1 fetus with lethal short-rib polydactyly syndrome II-like phenotype and a homozygous variant (c.98_111+9del) in FUZ.\r\n1 individual with asphyxiating thoracic dystrophy (ATD) with polydactyly and a (unclear if homozygous) missense variant [p.(Arg284Leu)] in FUZ.\r\n\r\nPMID: 34719684\r\nMonozygotic twins with craniosynostosis (1 x metopic, 1 x metopic/coronal) and a homozygous missense variant in FUZ [p.(Arg284Pro)]. They cultured primary osteoblasts and mouse embryonic fibroblasts from Fuz mutant mice. Loss of Fuz resulted in increased osteoblastic mineralisation, suggesting that the FUZ protein normally acts as a negative regulator of osteogenesis. \nSources: Literature","entity_name":"FUZ","entity_type":"gene"},{"created":"2024-06-05T09:00:58.250927+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"1.14","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: FUZ as Green List (high evidence)","entity_name":"FUZ","entity_type":"gene"},{"created":"2024-06-05T09:00:58.236861+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"1.14","user_name":"Chirag Patel","item_type":"entity","text":"Gene: fuz has been classified as Green List (High Evidence).","entity_name":"FUZ","entity_type":"gene"},{"created":"2024-06-05T08:57:08.779817+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"1.13","user_name":"Chirag Patel","item_type":"entity","text":"gene: FUZ was added\ngene: FUZ was added to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy. Sources: Literature\nMode of inheritance for gene: FUZ was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FUZ were set to PMID: 38702430, 29068549, 34719684\nPhenotypes for gene: FUZ were set to Ciliopathy_MONDO_0005308; skeletal ciliopathy\nReview for gene: FUZ was set to GREEN\ngene: FUZ was marked as current diagnostic\nAdded comment: FUZ is crucial for the transport of components to the primary cilium and potentially promotes protein complex assembly necessary for downstream cilium formation and function. Previous studies have shown complete knockout of Fuz in a mouse model leads to prenatal lethality, coronal craniosynostosis, micrognathia, facial malformations, eye, and heart defects. Suggested as a skeletal ciliopathy disorder gene.\r\n\r\nPMID: 38702430\r\n1 individual (from family with 2 affecteds) with orofaciodigital syndrome like phenotype (dysmorphism, bilateral foot preaxial polysyndactyly, right foot postaxial polysyndactyly, broad thumbs, bilateral 5th finger clinodactyly narrow chest, partial AVSD). They found a homozygous missense variant in FUZ [p.(Glu201Lys)]. Parents were heterozygous carriers. A sibling died at 18mths and had complete AVSD, bilateral cleft lip and palate, right 5th finger clinodactyly, and medially deviated/broad great toes.\r\n\r\n1 fetus with orofaciodigital syndrome like phenotype (right cleft lip, 4 limb polydactyly, bilateral duplicated hallux, and AVSD). They found compound heterozygous variants in FUZ [p.(Val209_Leu212del) and p.(Glu201Lys)].\r\n\r\nPMID: 29068549\r\n1 fetus with lethal short-rib polydactyly syndrome II-like phenotype and a homozygous variant (c.98_111+9del) in FUZ.\r\n1 individual with asphyxiating thoracic dystrophy (ATD) with polydactyly and a (unclear if homozygous) missense variant [p.(Arg284Leu)] in FUZ.\r\n\r\nPMID: 34719684\r\nMonozygotic twins with craniosynostosis (1 x metopic, 1 x metopic/coronal) and a homozygous missense variant in FUZ [p.(Arg284Pro)]. They cultured primary osteoblasts and mouse embryonic fibroblasts from Fuz mutant mice. Loss of Fuz resulted in increased osteoblastic mineralisation, suggesting that the FUZ protein normally acts as a negative regulator of osteogenesis. \nSources: Literature","entity_name":"FUZ","entity_type":"gene"},{"created":"2024-06-05T08:54:54.838431+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.53","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: FUZ as Green List (high evidence)","entity_name":"FUZ","entity_type":"gene"},{"created":"2024-06-05T08:54:54.813097+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.53","user_name":"Chirag Patel","item_type":"entity","text":"Gene: fuz has been classified as Green List (High Evidence).","entity_name":"FUZ","entity_type":"gene"},{"created":"2024-06-05T08:54:51.231286+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.246","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: FUZ as Green List (high evidence)","entity_name":"FUZ","entity_type":"gene"},{"created":"2024-06-05T08:54:51.208335+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.246","user_name":"Chirag Patel","item_type":"entity","text":"Gene: fuz has been classified as Green List (High Evidence).","entity_name":"FUZ","entity_type":"gene"},{"created":"2024-06-05T08:54:26.249848+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.11","user_name":"Ain Roesley","item_type":"entity","text":"gene: ANO4 was added\ngene: ANO4 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ANO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANO4 were set to 38744284\nPhenotypes for gene: ANO4 were set to neurodevelopmental disorder MONDO:0700092, ANO4-related\nReview for gene: ANO4 was set to GREEN\ngene: ANO4 was marked as current diagnostic\nAdded comment: aka TMEM16D\r\n\r\n5x de novo + 2x inherited missense (73% penetrance + asymptomatic)\r\n\r\nthe ones with de novo variants:\r\nall had ID, hypotonia\r\n4x skeletal features (scoliosis, funnel chest, pet plants, hyper extensible joints)\r\n\r\nall had epilepsy\r\nall had abnormal MRI \nSources: Literature","entity_name":"ANO4","entity_type":"gene"},{"created":"2024-06-05T08:53:59.538834+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.245","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: FUZ: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38702430, 29068549, 34719684; Phenotypes: Ciliopathy_MONDO_0005308, skeletal ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"FUZ","entity_type":"gene"},{"created":"2024-06-05T08:53:52.263010+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6032","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: ANO4 as Green List (high evidence)","entity_name":"ANO4","entity_type":"gene"},{"created":"2024-06-05T08:53:52.243550+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6032","user_name":"Ain Roesley","item_type":"entity","text":"Gene: ano4 has been classified as Green List (High Evidence).","entity_name":"ANO4","entity_type":"gene"},{"created":"2024-06-05T08:53:47.747942+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.11","user_name":"Ain Roesley","item_type":"entity","text":"gene: ANO4 was added\ngene: ANO4 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ANO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANO4 were set to 38744284\nPhenotypes for gene: ANO4 were set to neurodevelopmental disorder MONDO:0700092, ANO4-related\nReview for gene: ANO4 was set to GREEN\ngene: ANO4 was marked as current diagnostic\nAdded comment: aka TMEM16D\r\n\r\n5x de novo + 2x inherited missense (73% penetrance + asymptomatic)\r\n\r\nthe ones with de novo variants:\r\nall had ID, hypotonia\r\n4x skeletal features (scoliosis, funnel chest, pet plants, hyper extensible joints)\r\n\r\nall had epilepsy\r\nall had abnormal MRI \nSources: Literature","entity_name":"ANO4","entity_type":"gene"},{"created":"2024-06-05T08:53:25.459615+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.52","user_name":"Chirag Patel","item_type":"entity","text":"gene: FUZ was added\ngene: FUZ was added to Ciliopathies. Sources: Literature\nMode of inheritance for gene: FUZ was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FUZ were set to PMID: 38702430, 29068549, 34719684\nPhenotypes for gene: FUZ were set to Ciliopathy_MONDO_0005308; skeletal ciliopathy\nReview for gene: FUZ was set to GREEN\ngene: FUZ was marked as current diagnostic\nAdded comment: FUZ is crucial for the transport of components to the primary cilium and potentially promotes protein complex assembly necessary for downstream cilium formation and function. Previous studies have shown complete knockout of Fuz in a mouse model leads to prenatal lethality, coronal craniosynostosis, micrognathia, facial malformations, eye, and heart defects. Suggested as a skeletal ciliopathy disorder gene.\r\n\r\nPMID: 38702430\r\n1 individual (from family with 2 affecteds) with orofaciodigital syndrome like phenotype (dysmorphism, bilateral foot preaxial polysyndactyly, right foot postaxial polysyndactyly, broad thumbs, bilateral 5th finger clinodactyly narrow chest, partial AVSD). They found a homozygous missense variant in FUZ [p.(Glu201Lys)]. Parents were heterozygous carriers. A sibling died at 18mths and had complete AVSD, bilateral cleft lip and palate, right 5th finger clinodactyly, and medially deviated/broad great toes.\r\n\r\n1 fetus with orofaciodigital syndrome like phenotype (right cleft lip, 4 limb polydactyly, bilateral duplicated hallux, and AVSD). They found compound heterozygous variants in FUZ [p.(Val209_Leu212del) and p.(Glu201Lys)].\r\n\r\nPMID: 29068549\r\n1 fetus with lethal short-rib polydactyly syndrome II-like phenotype and a homozygous variant (c.98_111+9del) in FUZ.\r\n1 individual with asphyxiating thoracic dystrophy (ATD) with polydactyly and a (unclear if homozygous) missense variant [p.(Arg284Leu)] in FUZ.\r\n\r\nPMID: 34719684\r\nMonozygotic twins with craniosynostosis (1 x metopic, 1 x metopic/coronal) and a homozygous missense variant in FUZ [p.(Arg284Pro)]. They cultured primary osteoblasts and mouse embryonic fibroblasts from Fuz mutant mice. Loss of Fuz resulted in increased osteoblastic mineralisation, suggesting that the FUZ protein normally acts as a negative regulator of osteogenesis. \nSources: Literature","entity_name":"FUZ","entity_type":"gene"},{"created":"2024-06-05T08:53:13.792612+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.11","user_name":"Ain Roesley","item_type":"entity","text":"gene: ANO4 was added\ngene: ANO4 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ANO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANO4 were set to 38744284\nPhenotypes for gene: ANO4 were set to neurodevelopmental disorder MONDO:0700092, ANO4-related\nReview for gene: ANO4 was set to GREEN\ngene: ANO4 was marked as current diagnostic\nAdded comment: aka TMEM16D\r\n\r\n5x de novo + 2x inherited missense (73% penetrance + asymptomatic)\r\n\r\nthe ones with de novo variants:\r\nall had ID, hypotonia\r\n4x skeletal features (scoliosis, funnel chest, pet plants, hyper extensible joints)\r\n\r\nall had epilepsy\r\nall had abnormal MRI \nSources: Literature","entity_name":"ANO4","entity_type":"gene"},{"created":"2024-06-05T08:53:13.749516+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6031","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: ANO4 as Green List (high evidence)","entity_name":"ANO4","entity_type":"gene"},{"created":"2024-06-05T08:53:13.706947+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6031","user_name":"Ain Roesley","item_type":"entity","text":"Gene: ano4 has been classified as Green List (High Evidence).","entity_name":"ANO4","entity_type":"gene"},{"created":"2024-06-05T08:53:09.329746+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1813","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: FUZ as Green List (high evidence)","entity_name":"FUZ","entity_type":"gene"},{"created":"2024-06-05T08:53:09.302491+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1813","user_name":"Chirag Patel","item_type":"entity","text":"Gene: fuz has been classified as Green List (High Evidence).","entity_name":"FUZ","entity_type":"gene"},{"created":"2024-06-05T08:52:38.538304+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6031","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: ANO4 as ready","entity_name":"ANO4","entity_type":"gene"},{"created":"2024-06-05T08:52:38.522637+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6031","user_name":"Ain Roesley","item_type":"entity","text":"Gene: ano4 has been classified as Green List (High Evidence).","entity_name":"ANO4","entity_type":"gene"},{"created":"2024-06-05T08:52:33.004520+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1812","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: ANO4 as ready","entity_name":"ANO4","entity_type":"gene"},{"created":"2024-06-05T08:52:32.986784+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1812","user_name":"Ain Roesley","item_type":"entity","text":"Gene: ano4 has been classified as Green List (High Evidence).","entity_name":"ANO4","entity_type":"gene"},{"created":"2024-06-05T08:52:26.209320+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1812","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: ANO4 as Green List (high evidence)","entity_name":"ANO4","entity_type":"gene"},{"created":"2024-06-05T08:52:26.121732+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6031","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: ANO4 as Green List (high evidence)","entity_name":"ANO4","entity_type":"gene"},{"created":"2024-06-05T08:52:26.120486+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1812","user_name":"Ain Roesley","item_type":"entity","text":"Gene: ano4 has been classified as Green List (High Evidence).","entity_name":"ANO4","entity_type":"gene"},{"created":"2024-06-05T08:52:26.023053+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6031","user_name":"Ain Roesley","item_type":"entity","text":"Gene: ano4 has been classified as Green List (High Evidence).","entity_name":"ANO4","entity_type":"gene"},{"created":"2024-06-05T08:51:50.461255+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1811","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: FUZ: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38702430, 29068549, 34719684; Phenotypes: Ciliopathy_MONDO_0005308, skeletal ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"FUZ","entity_type":"gene"},{"created":"2024-06-05T08:51:34.296353+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1811","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: ANO4 as Green List (high evidence)","entity_name":"ANO4","entity_type":"gene"},{"created":"2024-06-05T08:51:34.281586+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1811","user_name":"Ain Roesley","item_type":"entity","text":"Gene: ano4 has been classified as Green List (High Evidence).","entity_name":"ANO4","entity_type":"gene"},{"created":"2024-06-05T08:50:48.358730+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1810","user_name":"Ain Roesley","item_type":"entity","text":"gene: ANO4 was added\ngene: ANO4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ANO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANO4 were set to 38744284\nPhenotypes for gene: ANO4 were set to neurodevelopmental disorder MONDO:0700092, ANO4-related\nReview for gene: ANO4 was set to GREEN\ngene: ANO4 was marked as current diagnostic\nAdded comment: aka TMEM16D\r\n\r\n5x de novo + 2x inherited missense (73% penetrance + asymptomatic)\r\n\r\nthe ones with de novo variants:\r\nall had ID, hypotonia\r\n4x skeletal features (scoliosis, funnel chest, pet plants, hyper extensible joints)\r\n\r\nall had epilepsy\r\nall had abnormal MRI \nSources: Literature","entity_name":"ANO4","entity_type":"gene"},{"created":"2024-06-05T08:50:21.152381+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6030","user_name":"Ain Roesley","item_type":"entity","text":"gene: ANO4 was added\ngene: ANO4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ANO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANO4 were set to 38744284\nPhenotypes for gene: ANO4 were set to neurodevelopmental disorder MONDO:0700092, ANO4-related\nReview for gene: ANO4 was set to GREEN\ngene: ANO4 was marked as current diagnostic\nAdded comment: aka TMEM16D\r\n\r\n5x de novo + 2x inherited missense (73% penetrance + asymptomatic)\r\n\r\nthe ones with de novo variants:\r\nall had ID, hypotonia\r\n4x skeletal features (scoliosis, funnel chest, pet plants, hyper extensible joints)\r\n\r\nall had epilepsy\r\nall had abnormal MRI \nSources: Literature","entity_name":"ANO4","entity_type":"gene"},{"created":"2024-06-05T08:34:35.602486+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.10","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: KCND1 as ready","entity_name":"KCND1","entity_type":"gene"},{"created":"2024-06-05T08:34:35.579666+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.10","user_name":"Ain Roesley","item_type":"entity","text":"Gene: kcnd1 has been classified as Green List (High Evidence).","entity_name":"KCND1","entity_type":"gene"},{"created":"2024-06-05T08:34:26.496106+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.10","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: KCND1 as Green List (high evidence)","entity_name":"KCND1","entity_type":"gene"},{"created":"2024-06-05T08:34:26.470063+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.10","user_name":"Ain Roesley","item_type":"entity","text":"Gene: kcnd1 has been classified as Green List (High Evidence).","entity_name":"KCND1","entity_type":"gene"},{"created":"2024-06-05T08:33:38.035842+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6029","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: KCND1 as Green List (high evidence)","entity_name":"KCND1","entity_type":"gene"},{"created":"2024-06-05T08:33:38.012088+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6029","user_name":"Ain Roesley","item_type":"entity","text":"Gene: kcnd1 has been classified as Green List (High Evidence).","entity_name":"KCND1","entity_type":"gene"},{"created":"2024-06-05T08:33:28.739912+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6028","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: KCND1 as ready","entity_name":"KCND1","entity_type":"gene"},{"created":"2024-06-05T08:33:28.721327+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6028","user_name":"Ain Roesley","item_type":"entity","text":"Gene: kcnd1 has been classified as Green List (High Evidence).","entity_name":"KCND1","entity_type":"gene"},{"created":"2024-06-05T08:33:06.354667+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1809","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: KCND1 as ready","entity_name":"KCND1","entity_type":"gene"},{"created":"2024-06-05T08:33:06.329374+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1809","user_name":"Ain Roesley","item_type":"entity","text":"Gene: kcnd1 has been classified as Green List (High Evidence).","entity_name":"KCND1","entity_type":"gene"},{"created":"2024-06-05T08:32:59.801032+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6028","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: KCND1 as Green List (high evidence)","entity_name":"KCND1","entity_type":"gene"},{"created":"2024-06-05T08:32:59.781292+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6028","user_name":"Ain Roesley","item_type":"entity","text":"Gene: kcnd1 has been classified as Green List (High Evidence).","entity_name":"KCND1","entity_type":"gene"},{"created":"2024-06-05T08:32:51.707336+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1809","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: KCND1 as Green List (high evidence)","entity_name":"KCND1","entity_type":"gene"},{"created":"2024-06-05T08:32:51.693889+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1809","user_name":"Ain Roesley","item_type":"entity","text":"Gene: kcnd1 has been classified as Green List (High Evidence).","entity_name":"KCND1","entity_type":"gene"},{"created":"2024-06-05T08:32:51.621448+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.9","user_name":"Ain Roesley","item_type":"entity","text":"gene: KCND1 was added\ngene: KCND1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: KCND1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: KCND1 were set to 38772379\nPhenotypes for gene: KCND1 were set to neurodevelopmental disorder MONDO:0700092, KCND1-related\nReview for gene: KCND1 was set to GREEN\ngene: KCND1 was marked as current diagnostic\nAdded comment: 18 males from 17 families\r\n2x de novo missense + 3x maternal NMDs + 12x maternal missense\r\nSome functional studies were done\r\n\r\n14x ID\r\n4x delayed motor dev\r\n7x muscular hypotonia\r\n6x epilepsy \nSources: Literature","entity_name":"KCND1","entity_type":"gene"},{"created":"2024-06-05T08:31:53.106476+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1808","user_name":"Ain Roesley","item_type":"entity","text":"gene: KCND1 was added\ngene: KCND1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KCND1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: KCND1 were set to 38772379\nPhenotypes for gene: KCND1 were set to neurodevelopmental disorder MONDO:0700092, KCND1-related\nReview for gene: KCND1 was set to GREEN\ngene: KCND1 was marked as current diagnostic\nAdded comment: 18 males from 17 families\r\n2x de novo missense + 3x maternal NMDs + 12x maternal missense\r\nSome functional studies were done\r\n\r\n14x ID\r\n4x delayed motor dev\r\n7x muscular hypotonia\r\n6x epilepsy \nSources: Literature","entity_name":"KCND1","entity_type":"gene"},{"created":"2024-06-05T08:31:24.594229+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6027","user_name":"Ain Roesley","item_type":"entity","text":"gene: KCND1 was added\ngene: KCND1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: KCND1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: KCND1 were set to 38772379\nPhenotypes for gene: KCND1 were set to neurodevelopmental disorder MONDO:0700092, KCND1-related\nReview for gene: KCND1 was set to GREEN\ngene: KCND1 was marked as current diagnostic\nAdded comment: 18 males from 17 families\r\n2x de novo missense + 3x maternal NMDs + 12x maternal missense\r\nSome functional studies were done\r\n\r\n14x ID\r\n4x delayed motor dev\r\n7x muscular hypotonia\r\n6x epilepsy \nSources: Literature","entity_name":"KCND1","entity_type":"gene"},{"created":"2024-06-05T08:21:57.488277+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6026","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ATXN7L3 as Green List (high evidence)","entity_name":"ATXN7L3","entity_type":"gene"},{"created":"2024-06-05T08:21:57.475106+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6026","user_name":"Chirag Patel","item_type":"entity","text":"Gene: atxn7l3 has been classified as Green List (High Evidence).","entity_name":"ATXN7L3","entity_type":"gene"},{"created":"2024-06-05T08:21:11.836876+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6025","user_name":"Chirag Patel","item_type":"entity","text":"gene: ATXN7L3 was added\ngene: ATXN7L3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ATXN7L3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATXN7L3 were set to PMID: 38753057\nPhenotypes for gene: ATXN7L3 were set to Neurodevelopmental disorder, MONDO_0100500\nReview for gene: ATXN7L3 was set to GREEN\ngene: ATXN7L3 was marked as current diagnostic\nAdded comment: This study reports 9 unrelated individuals with de novo heterozygous variants in ATXN7L3 identified through WES testing and GeneMatcher. Core clinical features included: global motor and language developmental delay, hypotonia, and dysmorphic features (hypertelorism, epicanthal folds, blepharoptosis, small nose, small mouth, and low-set posteriorly rotated ears). Variable features included: feeding difficulties, seizures, mild periventricular leukomalacia, and structural cardiac abnormalities.\r\n\r\nA recurrent nonsense variant [p.(Arg114Ter)] was found in 5/9 individuals. The other variants were 1 frameshift [p.(Ser112LysfsTer12)] and 3 missense variants [p.(Ile71Thr), p.(Ser92Arg), and p.(Leu106Pro)].  They investigated the effects of the recurrent nonsense variant [p.(Arg114Ter)] in fibroblasts of an affected individual. ATXN7L3 protein levels were reduced, and deubiquitylation was impaired (as indicated by an increase in histone H2Bub1 levels). This is consistent with the previous observation of increased H2Bub1 levels in Atxn7l3-null mouse embryos, which have developmental delay and embryonic lethality. \r\n\r\nPathogenic variants in deubiquitinating enzymes (DUBs) have been implicated in neurodevelopmental disorders (ND) and congenital abnormalities. ATXN7L3 is a component of the DUB module of the SAGA complex, and two other related DUB modules, and serves as an obligate adaptor protein of 3 ubiquitin-specific proteases (USP22, USP27X or USP51). \nSources: Literature","entity_name":"ATXN7L3","entity_type":"gene"},{"created":"2024-06-05T08:10:28.923941+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6024","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: FAM177A1 as Green List (high evidence)","entity_name":"FAM177A1","entity_type":"gene"},{"created":"2024-06-05T08:10:28.906351+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6024","user_name":"Chirag Patel","item_type":"entity","text":"Gene: fam177a1 has been classified as Green List (High Evidence).","entity_name":"FAM177A1","entity_type":"gene"},{"created":"2024-06-05T08:01:37.922206+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6023","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: FAM177A1 as Green List (high evidence)","entity_name":"FAM177A1","entity_type":"gene"},{"created":"2024-06-05T08:01:37.908440+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6023","user_name":"Chirag Patel","item_type":"entity","text":"Gene: fam177a1 has been classified as Green List (High Evidence).","entity_name":"FAM177A1","entity_type":"gene"},{"created":"2024-06-05T08:00:45.722744+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6022","user_name":"Chirag Patel","item_type":"entity","text":"gene: FAM177A1 was added\ngene: FAM177A1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: FAM177A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM177A1 were set to PMID: 38767059, 25558065\nPhenotypes for gene: FAM177A1 were set to Neurodevelopmental disorder, MONDO_0100500\nReview for gene: FAM177A1 was set to GREEN\ngene: FAM177A1 was marked as current diagnostic\nAdded comment: PMID: 38767059\r\n5 individuals from 3 unrelated families reported with with biallelic loss of function variants in FAM177A1. Clinical features included: global developmental delay, intellectual disability, seizures, behavioural abnormalities, hypotonia, gait disturbance, and macrocephaly.\r\n\r\nThey showed that FAM177A1 localizes to the Golgi complex in mammalian and zebrafish cells. Intersection of the RNA-seq and metabolomic datasets from FAM177A1-deficient human fibroblasts and whole zebrafish larvae demonstrated dysregulation of pathways associated with apoptosis, inflammation, and negative regulation of cell proliferation.\r\n\r\nPMID: 25558065\r\nA study of 143 multiplex consanguineous families identified a homozygous frameshift variant in FAM177A1 in 1 family with 4 affected siblings with intellectual disability, dolicocephaly, obesity, and macrocephaly. The variant segregated with all 4 affected siblings and parents were confirmed heterozygous carriers. \nSources: Literature","entity_name":"FAM177A1","entity_type":"gene"},{"created":"2024-06-05T07:39:47.479126+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6021","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ERF as Green List (high evidence)","entity_name":"ERF","entity_type":"gene"},{"created":"2024-06-05T07:39:47.462561+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6021","user_name":"Chirag Patel","item_type":"entity","text":"Gene: erf has been classified as Green List (High Evidence).","entity_name":"ERF","entity_type":"gene"},{"created":"2024-06-05T07:39:13.562342+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6020","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: ERF: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38824261; Phenotypes: Noonan syndrome-like with or without craniosynostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"ERF","entity_type":"gene"},{"created":"2024-06-05T07:38:26.999327+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.104","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ERF as Green List (high evidence)","entity_name":"ERF","entity_type":"gene"},{"created":"2024-06-05T07:38:26.983992+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.104","user_name":"Chirag Patel","item_type":"entity","text":"Gene: erf has been classified as Green List (High Evidence).","entity_name":"ERF","entity_type":"gene"},{"created":"2024-06-05T07:37:41.630124+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.103","user_name":"Chirag Patel","item_type":"entity","text":"gene: ERF was added\ngene: ERF was added to Rasopathy. Sources: Literature\nMode of inheritance for gene: ERF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ERF were set to PMID: 38824261\nPhenotypes for gene: ERF were set to Noonan syndrome-like with or without craniosynostosis\nReview for gene: ERF was set to GREEN\ngene: ERF was marked as current diagnostic\nAdded comment: ERF gene encodes a transcriptional regulator negatively controlling RAS-MAPK signalling. It has been associated with syndromic craniosynostosis involving various cranial sutures and Chitayat syndrome (respiratory distress, skeletal anomalies, and facial dysmorphism).\r\n\r\nThis paper describes 26 individuals from 15 unrelated families with Noonan-syndrome (NS) like phenotype and heterozygous nonsense and frameshift variants in ERF (most cases were familial). The clinical features included: variable global developmental and/or language delay, absolute/relative macrocephaly, short stature (<3rd centile), and dysmorphism (high forehead, hypertelorism, ptosis, wide nasal bridge, and low-set/posteriorly angulated ears). There were no individuals with typical NS cardiac involvement. Craniosynostosis was only seen in 3/26 unrelated individuals. \r\n\r\nThese findings provide evidence that heterozygous loss-of-function variants in ERF cause a \"RASopathy\" resembling NS with or without craniosynostosis. \nSources: Literature","entity_name":"ERF","entity_type":"gene"},{"created":"2024-06-05T07:31:59.597039+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.311","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34302381, PMID: 33897756, PMID: 28495245; Phenotypes: Fetal akinesia deformation sequence 2 MIM#618388; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAPSN","entity_type":"gene"},{"created":"2024-06-04T23:31:45.348526+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6020","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PPFIA3 were set to 37034625","entity_name":"PPFIA3","entity_type":"gene"},{"created":"2024-06-04T23:31:00.934544+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6019","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PPFIA3: Changed publications: 38723631","entity_name":"PPFIA3","entity_type":"gene"},{"created":"2024-06-04T23:30:31.992962+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1807","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PPFIA3 were set to 37034625","entity_name":"PPFIA3","entity_type":"gene"},{"created":"2024-06-04T23:29:54.303037+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1806","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PPFIA3: Changed publications: 38723631","entity_name":"PPFIA3","entity_type":"gene"}]}