{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=645","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=643","results":[{"created":"2023-01-08T16:11:44.099648+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.604","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trpc5 has been classified as Amber List (Moderate Evidence).","entity_name":"TRPC5","entity_type":"gene"},{"created":"2023-01-08T16:11:30.650845+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.604","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRPC5 were changed from Intellectual disability; autistic spectrum disorder to Neurodevelopmental disorder, MONDO:0700092, TRPC5-related","entity_name":"TRPC5","entity_type":"gene"},{"created":"2023-01-08T16:10:37.543768+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.603","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRPC5 as Amber List (moderate evidence)","entity_name":"TRPC5","entity_type":"gene"},{"created":"2023-01-08T16:10:37.532166+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.603","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trpc5 has been classified as Amber List (Moderate Evidence).","entity_name":"TRPC5","entity_type":"gene"},{"created":"2023-01-08T16:03:29.431034+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.151","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CRLS1 were changed from Mitochondrial disease MONDO:0044970 CRLS1-related to Combined oxidative phosphorylation deficiency 57, MIM# 620167","entity_name":"CRLS1","entity_type":"gene"},{"created":"2023-01-08T16:02:17.941185+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5147","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CRLS1 were changed from Mitochondrial disease MONDO:0044970 CRLS1-related to Combined oxidative phosphorylation deficiency 57, MIM# 620167","entity_name":"CRLS1","entity_type":"gene"},{"created":"2023-01-08T16:00:23.825902+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.155","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CRLS1 were changed from Mitochondrial disease MONDO:0044970 CRLS1-related to Combined oxidative phosphorylation deficiency 57, MIM# 620167","entity_name":"CRLS1","entity_type":"gene"},{"created":"2023-01-08T15:59:38.560761+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.852","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CRLS1 were changed from Mitochondrial disease MONDO:0044970 CRLS1-related to Combined oxidative phosphorylation deficiency 57, MIM# 620167","entity_name":"CRLS1","entity_type":"gene"},{"created":"2023-01-08T15:58:41.222804+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.602","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CRLS1 were changed from Mitochondrial disease MONDO:0044970 CRLS1-related to Combined oxidative phosphorylation deficiency 57, MIM# 620167","entity_name":"CRLS1","entity_type":"gene"},{"created":"2023-01-08T15:58:07.776451+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.601","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CRLS1: Changed phenotypes: Combined oxidative phosphorylation deficiency 57, MIM# 620167","entity_name":"CRLS1","entity_type":"gene"},{"created":"2023-01-06T12:28:45.620471+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.601","user_name":"Hazel Phillimore","item_type":"entity","text":"gene: TRPC5 was added\ngene: TRPC5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TRPC5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: TRPC5 were set to PMID: 36323681; 24817631; 23033978; 33504798; 28191890\nPhenotypes for gene: TRPC5 were set to Intellectual disability; autistic spectrum disorder\nReview for gene: TRPC5 was set to AMBER\nAdded comment: PMID: 36323681; Leitão E. et al. (2022) Nat Commun.13(1):6570: \r\nMissense variant NM_012471.2:c.523C>T, p.(Arg175Cys in three brothers with intellectual disability (ID) and autistic spectrum disorder (ASD), inherited from an asymptomatic mother and absent in the maternal grandparents. \r\nWhole cell patch clamp studies of HEK293 created by site-directed mutagenesis showed increased current of this calcium channel (constitutively opened). \r\n(This variant is absent in gnomAD v2.1.1). \r\n\r\nAlso, the nonsense variant, c.965G> A, p.(Trp322*) was found in a high functioning ASD male (maternally inherited), NMD-predicted.  \r\n\r\nOther papers and TRPC5 variants that were cited to associate this gene with X-linked ID and/or ASD include:\r\nPMID: 24817631; Mignon-Ravix, C. et al. (2014) Am. J.Med. Genet. A 164A: 1991–1997: A hemizygous 47-kb deletion in Xq23 including exon 1 of the TRPC5 gene. He had macrocephaly, delayed psychomotor development, speech delay, behavioural problems, and autistic features. Maternally inherited, and a family history compatible with X-linked inheritance (i.e., maternal great uncle was also affected, although not tested). \r\n\r\nIn addition, PMID: 36323681; Leitão E. et al. (2022) cites papers with the variants p.(Pro667Thr), p.(Arg71Gln) and p.(Trp225*).\r\nNB. p.(Pro667Thr) is absent in gnomAD (v2.1.1), p.(Arg71Gln) is also absent (the alternative variant p.(Arg71Trp) is present once as heterozygous only). p.(Trp225*) is absent, and it should be noted that PTCs / LoF variants are very rare (pLI = 1).\r\n\r\nHowever, looking further into the three references, the evidence is not as clear or as accurate as was stated. \r\n\r\nThe missense variant c.1999C>A, p.(Pro667Thr), was stated as de novo, but was actually maternally inherited but was still considered a candidate for severe intellectual disability (shown in the Appendix, Patient 93, with severe speech delay, autism spectrum disorder and Gilles de la Tourette). This patient also has a de novo MTF1 variant. Reference: PMID: 23033978; de Ligt, J. et al. (2012) N. Engl. J. Med. 367: 1921–1929). \r\n\r\nMissense variant (de novo): c.212G>A, p.(Arg71Gln), was found as part of the Deciphering Developmental Disorders (DDD) study and is shown in individual 164 in Supplementary Table 2 of PMID: 33504798; Martin, HC. et al. (2021) Nat. Commun.12: 627. Also displayed in DECIPHER (DDD research variant) with several phenotype traits, but ID and ASD are not specifically mentioned.\r\n\r\nNonsense variant: c.674G>A. p.(Trp225*) was stated as de novo but was inherited (reference PMID: 28191890; Kosmicki, JA. et al. (2017) Nat. Genet. 49: 504–510. Supplement Table 7). This was a study of severe intellectual delay, developmental delay / autism. (NB. The de novo p.(Arg71Gln) variant from the DDD study is also listed (subject DDD 342 in Supplement 4 / Table 2). \nSources: Literature","entity_name":"TRPC5","entity_type":"gene"},{"created":"2023-01-06T07:55:23.753772+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.601","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZMYM3 as ready","entity_name":"ZMYM3","entity_type":"gene"},{"created":"2023-01-06T07:55:23.737526+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.601","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zmym3 has been classified as Green List (High Evidence).","entity_name":"ZMYM3","entity_type":"gene"},{"created":"2023-01-05T20:11:10.300500+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Abnormality of renal medullary morphology, HP:0025361\nList of related panels changed from  to Abnormality of renal medullary morphology; HP:0025361","entity_name":null,"entity_type":null},{"created":"2023-01-05T20:09:30.258219+11:00","panel_name":"Renal Amyloidosis","panel_id":191,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Renal amyloidosis, HP:0001917\nList of related panels changed from  to Renal amyloidosis; HP:0001917","entity_name":null,"entity_type":null},{"created":"2023-01-05T19:33:07.190791+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.516","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Developmental regression, HP:0002376\nList of related panels changed from  to Developmental regression; HP:0002376","entity_name":null,"entity_type":null},{"created":"2023-01-05T19:33:07.167948+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.516","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Developmental regression, HP:0002376\nList of related panels changed from  to Developmental regression; HP:0002376","entity_name":null,"entity_type":null},{"created":"2023-01-05T19:31:30.811298+11:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.19","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Abnormal erythrocyte morphology, HP:0001877\nList of related panels changed from  to Abnormal erythrocyte morphology; HP:0001877","entity_name":null,"entity_type":null},{"created":"2023-01-05T19:29:53.729985+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Rasopathy, MONDO:0021060\nList of related panels changed from  to Rasopathy; MONDO:0021060","entity_name":null,"entity_type":null},{"created":"2023-01-05T19:28:51.785435+11:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Abnormality of radial ray, HP:0410049\nList of related panels changed from  to Abnormality of radial ray; HP:0410049","entity_name":null,"entity_type":null},{"created":"2023-01-05T15:45:28.902188+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.601","user_name":"Krithika Murali","item_type":"entity","text":"changed review comment from: Ye et al 2022, Neurogenetics identified 4 unrelated individuals with epilepsy and compound heterozygous BSN variants via trio WES (combination of null and missense). Homozygous knockout mouse models showed abnormal CNS transmission and seizure activity. None of the identified variants were present in population databases as homozygotes. One individual had ID and microcephaly but all other individuals with biallelic variants had normal development.\r\n\r\nIn addition, heterozygous variants were identified in unrelated affected individuals - 2 apparently co-segregating missense variants and 2 de novo null variants. These variants were either absent in population databases or rare. The authors note that affected individuals with heterozygous variants had milder disease - either requiring no therapy or monotherapy only. Heterozygous knockout mice had no phenotype and there were not enough affected individuals in the families to truly determine co-segregation. In addition, carrier parents of individuals with biallelic variants did not appear to be affected.\r\n\r\nAssociation between biallelic variants and epilepsy stronger than for monoallelic. \nSources: Literature; to: Ye et al 2022, Neurogenetics - https://jmg.bmj.com/content/early/2022/12/12/jmg-2022-108865\r\nIdentified 4 unrelated individuals with epilepsy and compound heterozygous BSN variants via trio WES (combination of null and missense). Homozygous knockout mouse models showed abnormal CNS transmission and seizure activity. None of the identified variants were present in population databases as homozygotes. One individual had ID and microcephaly but all other individuals with biallelic variants had normal development.\r\n\r\nIn addition, heterozygous variants were identified in unrelated affected individuals - 2 apparently co-segregating missense variants and 2 de novo null variants. These variants were either absent in population databases or rare. The authors note that affected individuals with heterozygous variants had milder disease - either requiring no therapy or monotherapy only. Heterozygous knockout mice had no phenotype and there were not enough affected individuals in the families to truly determine co-segregation. In addition, carrier parents of individuals with biallelic variants did not appear to be affected.\r\n\r\nAssociation between biallelic variants and epilepsy stronger than for monoallelic. \r\nSources: Literature","entity_name":"BSN","entity_type":"gene"},{"created":"2023-01-05T15:44:25.752688+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1829","user_name":"Krithika Murali","item_type":"entity","text":"changed review comment from: Ye et al 2022, Neurogenetics identified 4 unrelated individuals with epilepsy and compound heterozygous BSN variants via trio WES (combination of null and missense). Homozygous knockout mouse models showed abnormal CNS transmission and seizure activity. None of the identified variants were present in population databases as homozygotes.  One individual had ID and microcephaly but all other individuals with biallelic variants had normal development. \r\n\r\nIn addition, heterozygous variants were identified in unrelated affected individuals - 2 apparently co-segregating missense variants and 2 de novo null variants. These variants were either absent in population databases or rare. The authors note that affected individuals with heterozygous variants had milder disease - either requiring no therapy or monotherapy only. Heterozygous knockout mice had no phenotype and there were not enough affected individuals in the families to truly determine co-segregation. In addition, carrier parents of individuals with biallelic variants did not appear to be affected. \r\n\r\nAssociation between biallelic variants and epilepsy stronger than for monoallelic. \nSources: Literature; to: Ye et al 2022, Neurogenetics https://jmg.bmj.com/content/early/2022/12/12/jmg-2022-108865\r\nIdentified 4 unrelated individuals with epilepsy and compound heterozygous BSN variants via trio WES (combination of null and missense). Homozygous knockout mouse models showed abnormal CNS transmission and seizure activity. None of the identified variants were present in population databases as homozygotes.  One individual had ID and microcephaly but all other individuals with biallelic variants had normal development. \r\n\r\nIn addition, heterozygous variants were identified in unrelated affected individuals - 2 apparently co-segregating missense variants and 2 de novo null variants. These variants were either absent in population databases or rare. The authors note that affected individuals with heterozygous variants had milder disease - either requiring no therapy or monotherapy only. Heterozygous knockout mice had no phenotype and there were not enough affected individuals in the families to truly determine co-segregation. In addition, carrier parents of individuals with biallelic variants did not appear to be affected. \r\n\r\nAssociation between biallelic variants and epilepsy stronger than for monoallelic. \r\nSources: Literature","entity_name":"BSN","entity_type":"gene"},{"created":"2023-01-05T15:35:48.910002+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.601","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: RIC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36493769; Phenotypes: Cleft lip/palate MONDO:0016044, RIC1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes","entity_name":"RIC1","entity_type":"gene"},{"created":"2023-01-05T15:32:34.080842+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.601","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UHRF1 were changed from Multi locus imprinting disturbance in offspring to Multi locus imprinting disturbance in offspring; chromosome instability","entity_name":"UHRF1","entity_type":"gene"},{"created":"2023-01-05T15:32:11.811169+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.600","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UHRF1 were set to 29574422; 28976982","entity_name":"UHRF1","entity_type":"gene"},{"created":"2023-01-05T15:31:47.464659+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.599","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UHRF1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"UHRF1","entity_type":"gene"},{"created":"2023-01-05T15:30:50.652293+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5146","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC31A1 were set to PMID: 35913762","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2023-01-05T15:30:12.135314+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5145","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC31A1: Rating: RED; Mode of pathogenicity: None; Publications: 36562171; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2023-01-05T15:27:00.772114+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.598","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC31A1 were set to PMID: 35913762","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2023-01-05T15:26:36.281895+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.597","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC31A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 36562171; Phenotypes: Neurodevelopmental disorder, SLC31A1-related (MONDO#0700092); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2023-01-05T15:24:51.461731+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.83","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC31A1 as ready","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2023-01-05T15:24:51.449294+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.83","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc31a1 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2023-01-05T15:24:35.463675+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.83","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC31A1 as Amber List (moderate evidence)","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2023-01-05T15:24:35.449778+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.83","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc31a1 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2023-01-05T15:23:28.207236+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.597","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BSN as ready","entity_name":"BSN","entity_type":"gene"},{"created":"2023-01-05T15:23:28.201887+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.597","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: We are aware of additional mono-allelic cases.","entity_name":"BSN","entity_type":"gene"},{"created":"2023-01-05T15:23:28.163042+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.597","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bsn has been classified as Green List (High Evidence).","entity_name":"BSN","entity_type":"gene"},{"created":"2023-01-05T15:23:08.526090+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.597","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BSN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"BSN","entity_type":"gene"},{"created":"2023-01-05T15:22:42.596370+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.596","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BSN as Green List (high evidence)","entity_name":"BSN","entity_type":"gene"},{"created":"2023-01-05T15:22:42.583813+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.596","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bsn has been classified as Green List (High Evidence).","entity_name":"BSN","entity_type":"gene"},{"created":"2023-01-05T15:22:05.679392+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.595","user_name":"Chern Lim","item_type":"entity","text":"changed review comment from: PMID: 29574422 Begemann et al. 2018\r\n-\tHet missense in mother and proband, family recruited due to detection of multilocus imprinting disturbance (MLID) in offspring. Proband is one of discordant monozygotic twin. SRS: NH-CSS 5/6; also kidney failure in infancy, bilateral renal dysplasia. Variant present in both twins, no functional studies done on the missense.; to: PMID: 29574422 Begemann et al. 2018\r\n-\tHet missense in mother and proband, family recruited due to detection of multilocus imprinting disturbance (MLID) in offspring. Proband is one of discordant monozygotic twin. SRS: NH-CSS 5/6; also kidney failure in infancy, bilateral renal dysplasia. Variant present in both twins, no functional studies done on the missense. Her cotwin was clinically and epigenetically normal","entity_name":"UHRF1","entity_type":"gene"},{"created":"2023-01-05T15:22:05.408734+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1829","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BSN as ready","entity_name":"BSN","entity_type":"gene"},{"created":"2023-01-05T15:22:05.402825+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1829","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: We are aware of additional mono allelic cases.","entity_name":"BSN","entity_type":"gene"},{"created":"2023-01-05T15:22:05.318613+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1829","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bsn has been classified as Green List (High Evidence).","entity_name":"BSN","entity_type":"gene"},{"created":"2023-01-05T15:21:47.727398+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1829","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BSN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"BSN","entity_type":"gene"},{"created":"2023-01-05T15:21:10.556194+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1828","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BSN as Green List (high evidence)","entity_name":"BSN","entity_type":"gene"},{"created":"2023-01-05T15:21:10.543127+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1828","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bsn has been classified as Green List (High Evidence).","entity_name":"BSN","entity_type":"gene"},{"created":"2023-01-05T15:19:24.585720+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COQ7 as ready","entity_name":"COQ7","entity_type":"gene"},{"created":"2023-01-05T15:19:24.571450+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: coq7 has been classified as Amber List (Moderate Evidence).","entity_name":"COQ7","entity_type":"gene"},{"created":"2023-01-05T15:18:03.904832+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.595","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARHGAP35 were changed from neurodevelopmental disorder, ARHGAP35-related MONDO#0700092 to neurodevelopmental disorder, ARHGAP35-related MONDO#0700092; Developmental defect of the eye (MONDO:0020145), ARHGAP35-related","entity_name":"ARHGAP35","entity_type":"gene"},{"created":"2023-01-05T15:17:37.195880+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.594","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARHGAP35 were set to 33057194","entity_name":"ARHGAP35","entity_type":"gene"},{"created":"2023-01-05T15:17:05.382800+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.593","user_name":"Chern Lim","item_type":"entity","text":"edited their review of gene: UHRF1: Changed publications: 36458887, 29574422; Changed phenotypes: chromosome instability, Multi locus imprinting disturbance in offspring; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"UHRF1","entity_type":"gene"},{"created":"2023-01-05T15:16:36.995107+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.82","user_name":"Daniel Flanagan","item_type":"entity","text":"gene: SLC31A1 was added\ngene: SLC31A1 was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC31A1 were set to PMID: 35913762; 36562171\nPhenotypes for gene: SLC31A1 were set to Neurodevelopmental disorder, SLC31A1-related (MONDO#0700092)\nReview for gene: SLC31A1 was set to AMBER\nAdded comment: PMID:36562171\r\nHomozygous c.236T>C; p.(Leu79Pro) identified in a newborn of consanguineous parents. Variant absent from gnomAD. Prenatal ultrasound showed a male fetus with short femoral bones, an apparently enlarged heart-to-thorax ratio, and a wide cisterna magna. The infant was born with pulmonary hypoplasia. At 2 weeks of age, multifocal brain hemorrhages were diagnosed and the infant developed seizures. The infant died at 1 month of age. The Mother had three healthy children while nine pregnancies had been extrauterine gravidities or ended in first or mid-trimester spontaneous abortions.\r\n\r\nPMID: 35913762\r\nSLC31A1 is also referred to as CTR1.\r\nMonozygotic twins with hypotonia, global developmental delay, seizures, and rapid brain atrophy, consistent with profound central nervous system copper deficiency. Homozygous for a novel missense variant (p.(Arg95His)) in copper transporter CTR1, both parents heterozygous. A mouse knock-out model of CTR1 deficiency resulted in prenatal lethality. \nSources: Expert list","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2023-01-05T15:16:36.150326+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.593","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARHGEF38 as ready","entity_name":"ARHGEF38","entity_type":"gene"},{"created":"2023-01-05T15:16:36.137788+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.593","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arhgef38 has been classified as Amber List (Moderate Evidence).","entity_name":"ARHGEF38","entity_type":"gene"},{"created":"2023-01-05T15:16:29.580885+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.593","user_name":"Chern Lim","item_type":"entity","text":"edited their review of gene: UHRF1: Added comment: PMID: 36458887 Unoki et al. 2022\r\n-\tOne patient with compound het missense and nonsense variants, both parents are carriers (hets).\r\n-\tThe patient has chromosome instability with hypomethylation of the pericentromeric satellite-2 repeats and facial anomalies as typical symptoms of the ICF syndrome, but did not exhibit immunodeficiency, and developed an adrenocortical adenoma; characteristics that were atypical.\r\n-\tGenome-wide methylation analysis revealed the patient had a centromeric/pericentromeric hypomethylation, which is the main ICF signature, but also had a distinctive hypomethylation pattern compared to patients with the other ICF syndrome subtypes.\r\n-\tStructural and biochemical analyses revealed that the R296W variant disrupted the protein conformation and strengthened the binding affinity of UHRF1 with its partner LIG1, and reduced ubiquitylation activity of UHRF1 towards its ubiquitylation substrates, histone H3 and PAF15.; Changed publications: 36458887; Changed phenotypes: chromosome instability; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UHRF1","entity_type":"gene"},{"created":"2023-01-05T15:16:25.174270+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.593","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ARHGEF38 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ARHGEF38","entity_type":"gene"},{"created":"2023-01-05T15:16:04.458713+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.592","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ARHGEF38 as Amber List (moderate evidence)","entity_name":"ARHGEF38","entity_type":"gene"},{"created":"2023-01-05T15:16:04.447184+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.592","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arhgef38 has been classified as Amber List (Moderate Evidence).","entity_name":"ARHGEF38","entity_type":"gene"},{"created":"2023-01-05T15:14:31.217506+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5145","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDK16 were set to 25644381","entity_name":"CDK16","entity_type":"gene"},{"created":"2023-01-05T15:13:15.244993+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.591","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: UHRF1: Rating: RED; Mode of pathogenicity: None; Publications: 29574422; Phenotypes: Multi locus imprinting disturbance in offspring; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"UHRF1","entity_type":"gene"},{"created":"2023-01-05T15:12:58.427522+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1827","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EIF4A2 as ready","entity_name":"EIF4A2","entity_type":"gene"},{"created":"2023-01-05T15:12:58.414096+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1827","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif4a2 has been classified as Green List (High Evidence).","entity_name":"EIF4A2","entity_type":"gene"},{"created":"2023-01-05T15:12:49.473032+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1827","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EIF4A2 as Green List (high evidence)","entity_name":"EIF4A2","entity_type":"gene"},{"created":"2023-01-05T15:12:49.459310+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1827","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif4a2 has been classified as Green List (High Evidence).","entity_name":"EIF4A2","entity_type":"gene"},{"created":"2023-01-05T15:11:59.039150+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.591","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EIF4A2 as ready","entity_name":"EIF4A2","entity_type":"gene"},{"created":"2023-01-05T15:11:59.023592+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.591","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif4a2 has been classified as Green List (High Evidence).","entity_name":"EIF4A2","entity_type":"gene"},{"created":"2023-01-05T15:11:47.138368+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.591","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EIF4A2 as Green List (high evidence)","entity_name":"EIF4A2","entity_type":"gene"},{"created":"2023-01-05T15:11:47.122359+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.591","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif4a2 has been classified as Green List (High Evidence).","entity_name":"EIF4A2","entity_type":"gene"},{"created":"2023-01-05T15:10:17.924708+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5144","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ZMYM3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ZMYM3","entity_type":"gene"},{"created":"2023-01-05T15:05:38.011102+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.590","user_name":"Dean Phelan","item_type":"entity","text":"reviewed gene: ARHGAP35: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36450800; Phenotypes: Developmental defect of the eye (MONDO:0020145), ARHGAP35-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ARHGAP35","entity_type":"gene"},{"created":"2023-01-05T15:01:55.649136+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.590","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: SLC31A1 as Amber List (moderate evidence)","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2023-01-05T15:01:55.636884+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.590","user_name":"Alison Yeung","item_type":"entity","text":"Gene: slc31a1 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2023-01-05T15:01:14.257739+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1826","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: SLC31A1 as Amber List (moderate evidence)","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2023-01-05T15:01:14.247023+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1826","user_name":"Alison Yeung","item_type":"entity","text":"Gene: slc31a1 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2023-01-05T15:00:53.392953+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.589","user_name":"Paul De Fazio","item_type":"entity","text":"gene: ARHGEF38 was added\ngene: ARHGEF38 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ARHGEF38 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ARHGEF38 were set to 36493769\nPhenotypes for gene: ARHGEF38 were set to Cleft lip/palate MONDO:0016044, ARHGEF38-related\nReview for gene: ARHGEF38 was set to AMBER\ngene: ARHGEF38 was marked as current diagnostic\nAdded comment: PMID:36493769 identified an intragenic deletion by high-res microarray of the same exon (exon 3) in 4 individuals with non-syndromic cleft lip/palate. Deletion of exon 3 is present in 6 individuals in gnomAD. Inheritance information was not available.\r\n\r\nKnockdown and knockout of the gene in Xenopus and Zebrafish resulted in craniofacial malformations in a large proportion (but not 100%) of embryos. \nSources: Literature","entity_name":"ARHGEF38","entity_type":"gene"},{"created":"2023-01-05T15:00:24.380239+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1825","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: SLC31A1 as Amber List (moderate evidence)","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2023-01-05T15:00:24.367035+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1825","user_name":"Alison Yeung","item_type":"entity","text":"Gene: slc31a1 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2023-01-05T14:59:37.812787+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.222","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: CHEK2 were changed from Li-Fraumeni syndrome 2 (MIM#609265); {Breast cancer, susceptibility to} (MIM#114480); {Colorectal cancer, susceptibility to} (MIM#114500); {Prostate cancer, familial, susceptibility to} (MIM#176807) to Li-Fraumeni syndrome 2 (MIM#609265); {Breast cancer, susceptibility to} (MIM#114480); {Colorectal cancer, susceptibility to} (MIM#114500); {Prostate cancer, familial, susceptibility to} (MIM#176807)","entity_name":"CHEK2","entity_type":"gene"},{"created":"2023-01-05T14:59:18.728671+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.589","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COBLL1 as ready","entity_name":"COBLL1","entity_type":"gene"},{"created":"2023-01-05T14:59:18.663951+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.589","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cobll1 has been classified as Amber List (Moderate Evidence).","entity_name":"COBLL1","entity_type":"gene"},{"created":"2023-01-05T14:58:59.831643+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.589","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COBLL1 as Amber List (moderate evidence)","entity_name":"COBLL1","entity_type":"gene"},{"created":"2023-01-05T14:58:59.814423+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.589","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cobll1 has been classified as Amber List (Moderate Evidence).","entity_name":"COBLL1","entity_type":"gene"},{"created":"2023-01-05T14:58:38.183339+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.221","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: CHEK2 were changed from Breast cancer to Li-Fraumeni syndrome 2 (MIM#609265); {Breast cancer, susceptibility to} (MIM#114480); {Colorectal cancer, susceptibility to} (MIM#114500); {Prostate cancer, familial, susceptibility to} (MIM#176807)","entity_name":"CHEK2","entity_type":"gene"},{"created":"2023-01-05T14:58:32.327733+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COBLL1 as ready","entity_name":"COBLL1","entity_type":"gene"},{"created":"2023-01-05T14:58:32.306200+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cobll1 has been classified as Amber List (Moderate Evidence).","entity_name":"COBLL1","entity_type":"gene"},{"created":"2023-01-05T14:58:25.566193+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COBLL1 as Amber List (moderate evidence)","entity_name":"COBLL1","entity_type":"gene"},{"created":"2023-01-05T14:58:25.545879+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cobll1 has been classified as Amber List (Moderate Evidence).","entity_name":"COBLL1","entity_type":"gene"},{"created":"2023-01-05T14:58:14.594909+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.588","user_name":"Paul De Fazio","item_type":"entity","text":"edited their review of gene: COBLL1: Changed rating: AMBER","entity_name":"COBLL1","entity_type":"gene"},{"created":"2023-01-05T14:58:09.755008+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.221","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: CHEK2 were set to ","entity_name":"CHEK2","entity_type":"gene"},{"created":"2023-01-05T14:57:56.342832+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.588","user_name":"Paul De Fazio","item_type":"entity","text":"gene: COBLL1 was added\ngene: COBLL1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: COBLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: COBLL1 were set to 36493769\nPhenotypes for gene: COBLL1 were set to Cleft lip/palate MONDO:0016044, COBLL1-related\ngene: COBLL1 was marked as current diagnostic\nAdded comment: PMID:36493769 identified the same multi-exon intragenic deletion by high-res microarray in 3 individuals with non-syndromic cleft lip/palate. The deletion is absent from gnomAD. Inheritance information was only available for 1 individual, in whom it was inherited from an unaffected father. Note that the gene is not quite LOF constrained in gnomAD.\r\n\r\nKnockdown and knockout of the gene in Xenopus and Zebrafish resulted in craniofacial malformations in a large proportion (but not 100%) of embryos. \nSources: Literature","entity_name":"COBLL1","entity_type":"gene"},{"created":"2023-01-05T14:57:41.897151+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.221","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHEK2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CHEK2","entity_type":"gene"},{"created":"2023-01-05T14:57:33.047977+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.140","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: COQ7 as Amber List (moderate evidence)","entity_name":"COQ7","entity_type":"gene"},{"created":"2023-01-05T14:57:33.032440+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.140","user_name":"Elena Savva","item_type":"entity","text":"Gene: coq7 has been classified as Amber List (Moderate Evidence).","entity_name":"COQ7","entity_type":"gene"},{"created":"2023-01-05T14:57:28.732189+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1824","user_name":"Daniel Flanagan","item_type":"entity","text":"edited their review of gene: SLC31A1: Added comment: Homozygous c.236T>C; p.(Leu79Pro) identified in a newborn of consanguineous parents. Variant absent from gnomAD. Prenatal ultrasound showed a male fetus with short femoral bones, an apparently enlarged heart-to-thorax ratio, and a wide cisterna magna. The infant was born with pulmonary hypoplasia. At 2 weeks of age, multifocal brain hemorrhages were diagnosed and the infant developed seizures. The infant died at 1 month of age. The Mother had three healthy children while nine pregnancies had been extrauterine gravidities or ended in first or mid-trimester spontaneous abortions.; Changed rating: AMBER; Changed publications: PMID: 35913762, 36562171","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2023-01-05T14:57:00.534716+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.220","user_name":"Seb Lunke","item_type":"entity","text":"Mode of inheritance for gene: CHEK2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CHEK2","entity_type":"gene"},{"created":"2023-01-05T14:56:57.348633+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.189","user_name":"Paul De Fazio","item_type":"entity","text":"changed review comment from: PMID:36493769 identified the same multi-exon intragenic deletion by high-res microarray in 3 individuals with non-syndromic cleft lip/palate. The deletion is absent from gnomAD. Inheritance information was only available for 1 individual, in whom it was inherited from an unaffected father.\r\nKnockdown and knockout of the gene in Xenopus and Zebrafish resulted in craniofacial malformations in a large proportion (but not 100%) of embryos. \nSources: Literature; to: PMID:36493769 identified the same multi-exon intragenic deletion by high-res microarray in 3 individuals with non-syndromic cleft lip/palate. The deletion is absent from gnomAD. Inheritance information was only available for 1 individual, in whom it was inherited from an unaffected father. Note that the gene is not quite LOF constrained in gnomAD.\r\n\r\nKnockdown and knockout of the gene in Xenopus and Zebrafish resulted in craniofacial malformations in a large proportion (but not 100%) of embryos. \r\nSources: Literature","entity_name":"COBLL1","entity_type":"gene"},{"created":"2023-01-05T14:56:38.858065+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.588","user_name":"Krithika Murali","item_type":"entity","text":"gene: BSN was added\ngene: BSN was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BSN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BSN were set to Epilepsy MONDO:0005027\nReview for gene: BSN was set to GREEN\nAdded comment: Ye et al 2022, Neurogenetics identified 4 unrelated individuals with epilepsy and compound heterozygous BSN variants via trio WES (combination of null and missense). Homozygous knockout mouse models showed abnormal CNS transmission and seizure activity. None of the identified variants were present in population databases as homozygotes. One individual had ID and microcephaly but all other individuals with biallelic variants had normal development.\r\n\r\nIn addition, heterozygous variants were identified in unrelated affected individuals - 2 apparently co-segregating missense variants and 2 de novo null variants. These variants were either absent in population databases or rare. The authors note that affected individuals with heterozygous variants had milder disease - either requiring no therapy or monotherapy only. Heterozygous knockout mice had no phenotype and there were not enough affected individuals in the families to truly determine co-segregation. In addition, carrier parents of individuals with biallelic variants did not appear to be affected.\r\n\r\nAssociation between biallelic variants and epilepsy stronger than for monoallelic. \nSources: Literature","entity_name":"BSN","entity_type":"gene"},{"created":"2023-01-05T14:56:32.380965+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.220","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHEK2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CHEK2","entity_type":"gene"},{"created":"2023-01-05T14:55:52.965544+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.588","user_name":"Dean Phelan","item_type":"entity","text":"gene: EIF4A2 was added\ngene: EIF4A2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EIF4A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: EIF4A2 were set to PMID: 36528028\nPhenotypes for gene: EIF4A2 were set to Neurodevelopmental disorder (MONDO:0700092), EIF4A2-related\nMode of pathogenicity for gene: EIF4A2 was set to Other\nReview for gene: EIF4A2 was set to GREEN\nAdded comment: PMID: 36528028\r\n- EIF4A2 variants were observed in 15 individuals from 14 families. Affected individuals had a range of symptoms including global developmental delay (9/15), ID (7/15), epilepsy (11/15) and structural brain alterations (10/15). Monoallelic and biallelic variants were reported and functional studies showed both LOF and GOF disease mechanisms. \nSources: Literature","entity_name":"EIF4A2","entity_type":"gene"}]}