{"count":220817,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1245","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1243","results":[{"created":"2021-08-11T08:44:56.209344+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1161","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"gene: PIDD1 was added\ngene: PIDD1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PIDD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIDD1 were set to 28397838; 29302074; 33414379; 34163010\nPhenotypes for gene: PIDD1 were set to Global developmental delay; Intellectual disability; Seizures; Autism; Behavioral abnormality; Psychosis; Pachygyria; Lissencephaly; Abnormality of the corpus callosum\nPenetrance for gene: PIDD1 were set to Complete\nReview for gene: PIDD1 was set to GREEN\nAdded comment: There is enough evidence to include this gene in the current panel with green rating.\r\n\r\nBiallelic PIDD1 pathogenic variants have been reported in 26 individuals (11 families) with DD (all), variable degrees of ID (mild to severe), behavioral (eg. aggression/self-mutilation in several, ADHD) and/or psychiatric abnormalities (ASD, psychosis in 5 belonging to 3 families), well-controlled epilepsy is some (9 subjects from 6 families) and MRI abnormalities notably abnormal gyration pattern (pachygyria with predominant anterior gradient) as well as corpus callosum anomalies (commonly thinning) in several. Dysmorphic features have been reported in almost all, although there has been no specific feature suggested.\r\n\r\nThe first reports on the phenotype associated with biallelic PIDD1 mutations were made by Harripaul et al (2018 - PMID: 28397838) and Hu et al (2019 - PMID: 29302074) [both studies investigating large cohorts of individuals with ID from consanguineous families].\r\n\r\nSheikh et al (2021 - PMID: 33414379) provided details on the phenotype of 15 individuals from 5 families including those from the previous 2 reports and studied provided evidence on the role of PIDD1 and the effect of variants.\r\n\r\nZaki et al (2021 - PMID: 34163010) reported 11 additional individuals from 6 consanguineous families, summarize the features of all subjects published in the literature and review the neuroradiological features of the disorder.\r\n\r\nPIDD1 encodes p53-induced death domain protein 1. The protein is part of the PIDDosome, a multiprotein complex also composed of the bipartite linker protein CRADD (also known as RAIDD) and the proform of caspase-2 and induces apoptosis in response to DNA damage.\r\n\r\nThere are 5 potential PIDD1 mRNA transcript variants with NM_145886.4 corresponding to the longest. Similar to the protein encoded by CRADD, PIDD1 contains a death domain (DD - aa 774-893). Constitutive post-translational processing gives PIDD1-N, PIDD1-C the latter further processed into PIDD1-CC (by auto-cleavage). Serine residues at pos. 446 and 588 are involved in this autoprocessing generating PIDD1-C (aa 446-910) and PIDD1-CC (aa 774-893). The latter is needed for caspase-2 activation.\r\n\r\nMost (if not all) individuals belonged to consanguineous families of different origins and harbored pLoF or missense variants.\r\n\r\nVariants reported so far include : c.2587C>T; p.Gln863* / c.1909C>T ; p.Arg637* / c.2443C>T / p.Arg815Trp / c.2275-1G>A which upon trap assay was shown to lead to skipping of ex15 with direct splicing form exon14 to the terminal exon 16 (resulting to p.Arg759Glyfs*1 with exlcusion of the entire DD) / c.2584C>T; p.Arg862Trp / c.1340G>A; p.Trp447* / c.2116_2120del; p.Val706His*, c.1564_1565del; p.Gly602fs*26\r\n\r\nEvidence so far provided includes:\r\n- Biallelic CRADD variants cause a NDD disorder and a highly similar gyration pattern.\r\n- Confirmation of splicing effect (eg. for c.2275-1G>A premature stop in position 760) or poor expression (NM_145886.3:c.2587C>T; p.Gln863*). Arg815Trp did not affect autoprocessing or protein stability.\r\n- Abnormal localization pattern, loss of interaction with CRADD and failure to activate caspase-2 (MDM2 cleavage assay) [p.Gln863* and Arg815Trp]\r\n- Available expression data from GTEx (PIDD1 having broad expression in multiple tissues, but higher in brain cerebellum) as well as BrainSpan and PsychEncode studies suggesting high coexpression of PIDD1, CRADD and CASP2 in many regions in the developing human brain.\r\n- Variants in other genes encoding proteins interacting with PIDD1 (MADD, FADD, DNAJ, etc) are associated with NDD.\r\n\r\nPidd-1 ko mice (ex3-15 removal) lack however CNS-related phenotypes. These show decreased anxiety but no motor anomalies. This has also been the case with Cradd-/- mice displaying no significant CNS phenotypes without lamination defects.\r\n\r\nThere is currently no associated phenotype in OMIM, PanelApp Australia. PIDD1 is listed in the DD panel of G2P (PIDD1-related NDD / biallelic / loss of function / probable) . SysID includes PIDD1 among the current primary ID genes.\r\n\r\nOverall the gene appears to be relevant for the epilepsy panel, panels for gyration and/or corpus callosum anomalies etc. \nSources: Literature","entity_name":"PIDD1","entity_type":"gene"},{"created":"2021-08-11T08:44:52.661930+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4040","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"gene: PIDD1 was added\ngene: PIDD1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PIDD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIDD1 were set to 28397838; 29302074; 33414379; 34163010\nPhenotypes for gene: PIDD1 were set to Global developmental delay; Intellectual disability; Seizures; Autism; Behavioral abnormality; Psychosis; Pachygyria; Lissencephaly; Abnormality of the corpus callosum\nPenetrance for gene: PIDD1 were set to Complete\nReview for gene: PIDD1 was set to GREEN\nAdded comment: There is enough evidence to include this gene in the current panel with green rating.\r\n\r\nBiallelic PIDD1 pathogenic variants have been reported in 26 individuals (11 families) with DD (all), variable degrees of ID (mild to severe), behavioral (eg. aggression/self-mutilation in several, ADHD) and/or psychiatric abnormalities (ASD, psychosis in 5 belonging to 3 families), well-controlled epilepsy is some (9 subjects from 6 families) and MRI abnormalities notably abnormal gyration pattern (pachygyria with predominant anterior gradient) as well as corpus callosum anomalies (commonly thinning) in several. Dysmorphic features have been reported in almost all, although there has been no specific feature suggested.\r\n\r\nThe first reports on the phenotype associated with biallelic PIDD1 mutations were made by Harripaul et al (2018 - PMID: 28397838) and Hu et al (2019 - PMID: 29302074) [both studies investigating large cohorts of individuals with ID from consanguineous families].\r\n\r\nSheikh et al (2021 - PMID: 33414379) provided details on the phenotype of 15 individuals from 5 families including those from the previous 2 reports and studied provided evidence on the role of PIDD1 and the effect of variants.\r\n\r\nZaki et al (2021 - PMID: 34163010) reported 11 additional individuals from 6 consanguineous families, summarize the features of all subjects published in the literature and review the neuroradiological features of the disorder.\r\n\r\nPIDD1 encodes p53-induced death domain protein 1. The protein is part of the PIDDosome, a multiprotein complex also composed of the bipartite linker protein CRADD (also known as RAIDD) and the proform of caspase-2 and induces apoptosis in response to DNA damage.\r\n\r\nThere are 5 potential PIDD1 mRNA transcript variants with NM_145886.4 corresponding to the longest. Similar to the protein encoded by CRADD, PIDD1 contains a death domain (DD - aa 774-893). Constitutive post-translational processing gives PIDD1-N, PIDD1-C the latter further processed into PIDD1-CC (by auto-cleavage). Serine residues at pos. 446 and 588 are involved in this autoprocessing generating PIDD1-C (aa 446-910) and PIDD1-CC (aa 774-893). The latter is needed for caspase-2 activation.\r\n\r\nMost (if not all) individuals belonged to consanguineous families of different origins and harbored pLoF or missense variants.\r\n\r\nVariants reported so far include : c.2587C>T; p.Gln863* / c.1909C>T ; p.Arg637* / c.2443C>T / p.Arg815Trp / c.2275-1G>A which upon trap assay was shown to lead to skipping of ex15 with direct splicing form exon14 to the terminal exon 16 (resulting to p.Arg759Glyfs*1 with exlcusion of the entire DD) / c.2584C>T; p.Arg862Trp / c.1340G>A; p.Trp447* / c.2116_2120del; p.Val706His*, c.1564_1565del; p.Gly602fs*26\r\n\r\nEvidence so far provided includes:\r\n- Biallelic CRADD variants cause a NDD disorder and a highly similar gyration pattern.\r\n- Confirmation of splicing effect (eg. for c.2275-1G>A premature stop in position 760) or poor expression (NM_145886.3:c.2587C>T; p.Gln863*). Arg815Trp did not affect autoprocessing or protein stability.\r\n- Abnormal localization pattern, loss of interaction with CRADD and failure to activate caspase-2 (MDM2 cleavage assay) [p.Gln863* and Arg815Trp]\r\n- Available expression data from GTEx (PIDD1 having broad expression in multiple tissues, but higher in brain cerebellum) as well as BrainSpan and PsychEncode studies suggesting high coexpression of PIDD1, CRADD and CASP2 in many regions in the developing human brain.\r\n- Variants in other genes encoding proteins interacting with PIDD1 (MADD, FADD, DNAJ, etc) are associated with NDD.\r\n\r\nPidd-1 ko mice (ex3-15 removal) lack however CNS-related phenotypes. These show decreased anxiety but no motor anomalies. This has also been the case with Cradd-/- mice displaying no significant CNS phenotypes without lamination defects.\r\n\r\nThere is currently no associated phenotype in OMIM, PanelApp Australia. PIDD1 is listed in the DD panel of G2P (PIDD1-related NDD / biallelic / loss of function / probable) . SysID includes PIDD1 among the current primary ID genes.\r\n\r\nOverall the gene appears to be relevant for the epilepsy panel, panels for gyration and/or corpus callosum anomalies etc. \nSources: Literature","entity_name":"PIDD1","entity_type":"gene"},{"created":"2021-08-11T08:25:26.843697+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UBE2T as ready","entity_name":"UBE2T","entity_type":"gene"},{"created":"2021-08-11T08:25:26.832291+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ube2t has been classified as Green List (High Evidence).","entity_name":"UBE2T","entity_type":"gene"},{"created":"2021-08-11T08:25:23.602527+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UBE2T were changed from Falcon anemia; 616435 Fanconi anemia, complementation group T; Fanconi anemia, complementation group T, 616435 to Fanconi anemia, complementation group T, MIM# 616435","entity_name":"UBE2T","entity_type":"gene"},{"created":"2021-08-11T08:25:13.138090+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UBE2T were set to 26046368","entity_name":"UBE2T","entity_type":"gene"},{"created":"2021-08-11T08:24:58.449882+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: UBE2T: Poor growth is an early feature of FA.","entity_name":"UBE2T","entity_type":"gene"},{"created":"2021-08-11T08:23:51.569153+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TOP3A as ready","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-08-11T08:23:51.558567+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: top3a has been classified as Green List (High Evidence).","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-08-11T08:23:48.018029+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TOP3A were changed from Microcephaly, growth restriction, and increased sister chromatid exchange 2; MGRISCE2 (Bloom-like syndrome) 618097; 618097 MGRISCE2 (Bloom-like syndrome) to Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-08-11T08:23:29.814065+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TOP3A were set to ","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-08-11T08:22:38.247152+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SOS2 as ready","entity_name":"SOS2","entity_type":"gene"},{"created":"2021-08-11T08:22:38.236549+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sos2 has been classified as Green List (High Evidence).","entity_name":"SOS2","entity_type":"gene"},{"created":"2021-08-11T08:22:35.248278+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SOS2 were changed from Noonan syndrome 9 to Noonan syndrome 9, MIM# 616559","entity_name":"SOS2","entity_type":"gene"},{"created":"2021-08-11T08:22:26.342229+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SOS2 were set to 25795793; 26173643","entity_name":"SOS2","entity_type":"gene"},{"created":"2021-08-11T08:22:16.210636+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: SOS2 was changed from Other - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"SOS2","entity_type":"gene"},{"created":"2021-08-11T08:22:08.906164+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SOS2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SOS2","entity_type":"gene"},{"created":"2021-08-11T08:21:27.802370+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SOS1 as ready","entity_name":"SOS1","entity_type":"gene"},{"created":"2021-08-11T08:21:27.791374+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sos1 has been classified as Green List (High Evidence).","entity_name":"SOS1","entity_type":"gene"},{"created":"2021-08-11T08:21:24.145328+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SOS1 were changed from Noonan syndrome; Rasopathy; Noonan syndrome 4 to Noonan syndrome 4, MIM# 610733","entity_name":"SOS1","entity_type":"gene"},{"created":"2021-08-11T08:20:32.195982+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLX4 as ready","entity_name":"SLX4","entity_type":"gene"},{"created":"2021-08-11T08:20:32.186267+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slx4 has been classified as Green List (High Evidence).","entity_name":"SLX4","entity_type":"gene"},{"created":"2021-08-11T08:20:29.880243+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLX4 were changed from 613951 Fanconi Anemia Fanconi anemia, complementation group P; Fanconi anemia, complementation group P, 613951; Fanconi Anemia to Fanconi anemia, complementation group P, MIM# 613951","entity_name":"SLX4","entity_type":"gene"},{"created":"2021-08-11T08:20:11.836257+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: SLX4: Poor growth is an early feature.","entity_name":"SLX4","entity_type":"gene"},{"created":"2021-08-11T08:19:16.789846+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4040","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SHOC2 as ready","entity_name":"SHOC2","entity_type":"gene"},{"created":"2021-08-11T08:19:16.780553+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4040","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shoc2 has been classified as Green List (High Evidence).","entity_name":"SHOC2","entity_type":"gene"},{"created":"2021-08-11T08:19:13.082399+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4040","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SHOC2 were changed from  to Noonan syndrome-like with loose anagen hair 1, MIM# 607721","entity_name":"SHOC2","entity_type":"gene"},{"created":"2021-08-11T08:18:46.662969+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4039","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SHOC2 were set to ","entity_name":"SHOC2","entity_type":"gene"},{"created":"2021-08-11T08:18:13.697542+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4038","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: SHOC2 was changed from  to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"SHOC2","entity_type":"gene"},{"created":"2021-08-11T08:17:43.526930+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4037","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SHOC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SHOC2","entity_type":"gene"},{"created":"2021-08-11T08:17:07.965263+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4036","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 19684605, 23918763, 20882035; Phenotypes: Noonan syndrome-like with loose anagen hair 1, MIM# 607721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SHOC2","entity_type":"gene"},{"created":"2021-08-11T08:15:52.736903+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SHOC2 as ready","entity_name":"SHOC2","entity_type":"gene"},{"created":"2021-08-11T08:15:52.726445+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shoc2 has been classified as Green List (High Evidence).","entity_name":"SHOC2","entity_type":"gene"},{"created":"2021-08-11T08:15:49.537938+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SHOC2 were changed from Noonan with loss of anagen hair; Noonan-like syndrome with loose anagen hair to Noonan syndrome-like with loose anagen hair 1, MIM# 607721","entity_name":"SHOC2","entity_type":"gene"},{"created":"2021-08-11T08:14:38.247379+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.256","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC41A1 as ready","entity_name":"SLC41A1","entity_type":"gene"},{"created":"2021-08-11T08:14:38.238009+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.256","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc41a1 has been classified as Red List (Low Evidence).","entity_name":"SLC41A1","entity_type":"gene"},{"created":"2021-08-11T08:14:34.615647+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.256","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC41A1 were changed from Parkinson disease, idiopathic to Nephronophthisis-like nephropathy 2, MIM# 619468","entity_name":"SLC41A1","entity_type":"gene"},{"created":"2021-08-11T08:14:20.553577+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC41A1 were set to ","entity_name":"SLC41A1","entity_type":"gene"},{"created":"2021-08-11T08:14:10.812926+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC41A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC41A1","entity_type":"gene"},{"created":"2021-08-11T08:13:55.830867+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC41A1: Rating: RED; Mode of pathogenicity: None; Publications: 23661805; Phenotypes: Nephronophthisis-like nephropathy 2, MIM# 619468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC41A1","entity_type":"gene"},{"created":"2021-08-11T08:13:04.284076+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8729","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC41A1 were changed from Nephronophthisis to Nephronophthisis-like nephropathy 2, MIM# 619468","entity_name":"SLC41A1","entity_type":"gene"},{"created":"2021-08-11T08:12:42.924031+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8728","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC41A1: Changed phenotypes: Nephronophthisis-like nephropathy 2, MIM# 619468","entity_name":"SLC41A1","entity_type":"gene"},{"created":"2021-08-11T08:12:04.572579+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC41A1 were changed from Nephronophthisis; no OMIM number to Nephronophthisis-like nephropathy 2, MIM# 619468","entity_name":"SLC41A1","entity_type":"gene"},{"created":"2021-08-11T08:11:32.859433+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC41A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis-like nephropathy 2, MIM# 619468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC41A1","entity_type":"gene"},{"created":"2021-08-10T18:15:05.671926+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RBCK1 as ready","entity_name":"RBCK1","entity_type":"gene"},{"created":"2021-08-10T18:15:05.662071+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rbck1 has been classified as Green List (High Evidence).","entity_name":"RBCK1","entity_type":"gene"},{"created":"2021-08-10T18:14:59.403888+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RBCK1 were changed from  to Polyglucosan body myopathy 1 with or without immunodeficiency MIM# 615895; muscular weakness; cardiomyopathy; recurrent bacterial/viral infections; autoinflammation; immunodeficiency; Poor antibody responses to polysaccharides; failure to thrive; fever; pneumonia","entity_name":"RBCK1","entity_type":"gene"},{"created":"2021-08-10T18:13:52.665538+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RBCK1 were set to ","entity_name":"RBCK1","entity_type":"gene"},{"created":"2021-08-10T18:13:03.063871+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RBCK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RBCK1","entity_type":"gene"},{"created":"2021-08-10T18:12:13.468642+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYH7 as ready","entity_name":"MYH7","entity_type":"gene"},{"created":"2021-08-10T18:12:13.455796+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh7 has been classified as Green List (High Evidence).","entity_name":"MYH7","entity_type":"gene"},{"created":"2021-08-10T18:12:10.812788+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYH7 were changed from  to Ebstein anomaly","entity_name":"MYH7","entity_type":"gene"},{"created":"2021-08-10T18:11:47.014402+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYH7 were set to ","entity_name":"MYH7","entity_type":"gene"},{"created":"2021-08-10T18:11:20.727827+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: MYH7 was changed from  to Other","entity_name":"MYH7","entity_type":"gene"},{"created":"2021-08-10T18:11:00.914978+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYH7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MYH7","entity_type":"gene"},{"created":"2021-08-10T18:10:01.094153+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8728","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRPF31 as ready","entity_name":"PRPF31","entity_type":"gene"},{"created":"2021-08-10T18:10:01.085131+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8728","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prpf31 has been classified as Green List (High Evidence).","entity_name":"PRPF31","entity_type":"gene"},{"created":"2021-08-10T18:09:52.558089+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8728","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRPF31 were changed from  to Retinitis pigmentosa 11, MIM#600138","entity_name":"PRPF31","entity_type":"gene"},{"created":"2021-08-10T18:09:32.785351+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8727","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRPF31 were set to ","entity_name":"PRPF31","entity_type":"gene"},{"created":"2021-08-10T18:09:14.288478+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8726","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PRPF31 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRPF31","entity_type":"gene"},{"created":"2021-08-10T18:08:55.258946+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8725","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: PRPF31.","entity_name":"PRPF31","entity_type":"gene"},{"created":"2021-08-10T18:08:42.891683+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8725","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRPF31: Rating: GREEN; Mode of pathogenicity: None; Publications: 32014492; Phenotypes: Retinitis pigmentosa 11, MIM#600138; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRPF31","entity_type":"gene"},{"created":"2021-08-10T18:07:45.163224+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8725","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNF168 as ready","entity_name":"RNF168","entity_type":"gene"},{"created":"2021-08-10T18:07:45.152801+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8725","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf168 has been classified as Green List (High Evidence).","entity_name":"RNF168","entity_type":"gene"},{"created":"2021-08-10T18:07:36.105715+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8725","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNF168 were changed from  to RIDDLE syndrome MIM# 611943; Radiosensitivity; Immune Deficiency; Dysmorphic Features; Learning difficulties; Low IgG or IgA; Short stature; mild defect of motor control to ataxia; normal intelligence to learning difficulties; mild facial dysmorphism to microcephaly","entity_name":"RNF168","entity_type":"gene"},{"created":"2021-08-10T17:32:53.507746+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNF168 as ready","entity_name":"RNF168","entity_type":"gene"},{"created":"2021-08-10T17:32:53.498009+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf168 has been classified as Green List (High Evidence).","entity_name":"RNF168","entity_type":"gene"},{"created":"2021-08-10T17:32:48.868130+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RNF168 as Green List (high evidence)","entity_name":"RNF168","entity_type":"gene"},{"created":"2021-08-10T17:32:48.858209+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf168 has been classified as Green List (High Evidence).","entity_name":"RNF168","entity_type":"gene"},{"created":"2021-08-10T17:32:00.424258+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8724","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RNF168 were set to ","entity_name":"RNF168","entity_type":"gene"},{"created":"2021-08-10T17:31:49.533241+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"1.2","user_name":"Danielle Ariti","item_type":"entity","text":"gene: RNF168 was added\ngene: RNF168 was added to Chromosome Breakage Disorders. Sources: Literature\nMode of inheritance for gene: RNF168 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNF168 were set to 19203578; 21394101; 29255463; 21552324\nPhenotypes for gene: RNF168 were set to RIDDLE syndrome MIM# 611943; Radiosensitivity; Immune Deficiency; Dysmorphic Features; Learning difficulties; Low IgG or IgA; Short stature; mild defect of motor control to ataxia; normal intelligence to learning difficulties; mild facial dysmorphism to microcephaly\nReview for gene: RNF168 was set to GREEN\nAdded comment: 4 individuals from 3 unrelated families have been reported with RNF168 variants and display RIDDLE syndrome phenotype.\r\n\r\nOne mouse model; demonstrated RNF168 deficient mice are immunodeficient and exhibit increased radiosensitivity.\r\n\r\nHomozygous and Compound heterozygous (duplications, deletions and nonsense) variants identified resulting in frameshift, aberrant protein and alteration of binding motifs.\r\n\r\nTypically presents with increased radiosensitivity, immunodeficiency (decrease IgA), mild motor control and learning difficulties, facial dysmorphism, and short stature. \nSources: Literature","entity_name":"RNF168","entity_type":"gene"},{"created":"2021-08-10T17:31:38.811033+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8723","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RNF168 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RNF168","entity_type":"gene"},{"created":"2021-08-10T17:31:37.422711+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.309","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNF168 as ready","entity_name":"RNF168","entity_type":"gene"},{"created":"2021-08-10T17:31:37.411065+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.309","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf168 has been classified as Green List (High Evidence).","entity_name":"RNF168","entity_type":"gene"},{"created":"2021-08-10T17:31:03.491979+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8722","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RFXAP as ready","entity_name":"RFXAP","entity_type":"gene"},{"created":"2021-08-10T17:31:03.481940+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8722","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rfxap has been classified as Green List (High Evidence).","entity_name":"RFXAP","entity_type":"gene"},{"created":"2021-08-10T17:30:52.888981+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8722","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RFXAP were changed from  to Bare lymphocyte syndrome, type II, complementation group D MIM# 209920; Low CD4+ T cells; reduced MHC II expression on lymphocytes; Normal-low Ig levels; Failure to thrive; respiratory/gastrointestinal infections; liver/biliary tract disease; diarrhoea; Severe autoimmune cytopaenia; agammaglobulinaemia","entity_name":"RFXAP","entity_type":"gene"},{"created":"2021-08-10T17:30:35.164339+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.309","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNF168 were changed from  to RIDDLE syndrome MIM# 611943; Radiosensitivity; Immune Deficiency; Dysmorphic Features; Learning difficulties; Low IgG or IgA; Short stature; mild defect of motor control to ataxia; normal intelligence to learning difficulties; mild facial dysmorphism to microcephaly","entity_name":"RNF168","entity_type":"gene"},{"created":"2021-08-10T17:30:33.641772+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8721","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RFXAP were set to ","entity_name":"RFXAP","entity_type":"gene"},{"created":"2021-08-10T17:28:40.416359+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.308","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RNF168 were set to ","entity_name":"RNF168","entity_type":"gene"},{"created":"2021-08-10T17:28:09.963854+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.307","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RNF168 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RNF168","entity_type":"gene"},{"created":"2021-08-10T17:27:08.572592+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8720","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RFXAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RFXAP","entity_type":"gene"},{"created":"2021-08-10T17:26:50.683697+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8719","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: RFXAP.","entity_name":"RFXAP","entity_type":"gene"},{"created":"2021-08-10T17:26:23.653941+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8719","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RFXANK as ready","entity_name":"RFXANK","entity_type":"gene"},{"created":"2021-08-10T17:26:23.644231+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8719","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rfxank has been classified as Green List (High Evidence).","entity_name":"RFXANK","entity_type":"gene"},{"created":"2021-08-10T17:26:19.832111+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.306","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RFXAP as ready","entity_name":"RFXAP","entity_type":"gene"},{"created":"2021-08-10T17:26:19.821039+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.306","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rfxap has been classified as Green List (High Evidence).","entity_name":"RFXAP","entity_type":"gene"},{"created":"2021-08-10T17:26:11.062113+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.306","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RFXAP were changed from  to Bare lymphocyte syndrome, type II, complementation group D MIM# 209920; Low CD4+ T cells; reduced MHC II expression on lymphocytes; Normal-low Ig levels; Failure to thrive; respiratory/gastrointestinal infections; liver/biliary tract disease; diarrhoea; Severe autoimmune cytopaenia; agammaglobulinaemia","entity_name":"RFXAP","entity_type":"gene"},{"created":"2021-08-10T17:26:04.291008+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8719","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RFXANK were changed from  to MHC class II deficiency, complementation group B MIM# 209920; Bare Lymphocyte Syndrome, type II, complementation group B; Low CD4+ T cells; reduced MHC II expression on lymphocytes; Normal-low Ig levels; Failure to thrive; respiratory/gastrointestinal infections; liver/biliary tract disease; diarrhoea; Severe autoimmune cytopaenia; agammaglobulinaemia","entity_name":"RFXANK","entity_type":"gene"},{"created":"2021-08-10T17:25:47.413579+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.305","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RFXAP were set to ","entity_name":"RFXAP","entity_type":"gene"},{"created":"2021-08-10T17:25:22.212260+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8718","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RFXANK were set to ","entity_name":"RFXANK","entity_type":"gene"},{"created":"2021-08-10T17:25:07.000350+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.304","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RFXAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RFXAP","entity_type":"gene"},{"created":"2021-08-10T17:25:00.658088+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8717","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: RFXANK.","entity_name":"RFXANK","entity_type":"gene"},{"created":"2021-08-10T17:24:52.375880+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.115","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: RBCK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29260357, 29695863; Phenotypes: Polyglucosan body myopathy 1 with or without immunodeficiency MIM# 615895, muscular weakness, cardiomyopathy, recurrent bacterial/viral infections, autoinflammation, immunodeficiency, Poor antibody responses to polysaccharides, failure to thrive, fever, pneumonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RBCK1","entity_type":"gene"},{"created":"2021-08-10T17:24:10.571090+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8717","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RFXANK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RFXANK","entity_type":"gene"},{"created":"2021-08-10T17:23:37.181030+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.303","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RFXANK as ready","entity_name":"RFXANK","entity_type":"gene"},{"created":"2021-08-10T17:23:37.170662+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.303","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rfxank has been classified as Green List (High Evidence).","entity_name":"RFXANK","entity_type":"gene"},{"created":"2021-08-10T17:23:29.126254+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.303","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RFXANK were changed from  to MHC class II deficiency, complementation group B MIM# 209920; Bare Lymphocyte Syndrome, type II, complementation group B; Low CD4+ T cells; reduced MHC II expression on lymphocytes; Normal-low Ig levels; Failure to thrive; respiratory/gastrointestinal infections; liver/biliary tract disease; diarrhoea; Severe autoimmune cytopaenia; agammaglobulinaemia","entity_name":"RFXANK","entity_type":"gene"},{"created":"2021-08-10T17:22:45.145383+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.302","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RFXANK were set to ","entity_name":"RFXANK","entity_type":"gene"},{"created":"2021-08-10T17:22:41.908386+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8716","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RBCK1 as ready","entity_name":"RBCK1","entity_type":"gene"}]}