{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=552","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=550","results":[{"created":"2023-09-07T12:37:31.675425+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1152","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: AXIN1 were changed from Caudal duplication anomaly, MIM# 607864 to Caudal duplication anomaly, MIM# 607864; Syndromic disease, (MONDO:0002254), AXIN1-related","entity_name":"AXIN1","entity_type":"gene"},{"created":"2023-09-07T12:37:31.345499+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1152","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: AXIN1 were set to 9335612","entity_name":"AXIN1","entity_type":"gene"},{"created":"2023-09-07T12:37:29.925960+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.141","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: DBR1 as Amber List (moderate evidence)","entity_name":"DBR1","entity_type":"gene"},{"created":"2023-09-07T12:37:29.886216+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.141","user_name":"Seb Lunke","item_type":"entity","text":"Gene: dbr1 has been classified as Amber List (Moderate Evidence).","entity_name":"DBR1","entity_type":"gene"},{"created":"2023-09-07T12:37:08.314827+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1151","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: AXIN1 as Green List (high evidence)","entity_name":"AXIN1","entity_type":"gene"},{"created":"2023-09-07T12:37:08.235699+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1151","user_name":"Elena Savva","item_type":"entity","text":"Gene: axin1 has been classified as Green List (High Evidence).","entity_name":"AXIN1","entity_type":"gene"},{"created":"2023-09-07T12:37:04.998713+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1151","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: AXIN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AXIN1","entity_type":"gene"},{"created":"2023-09-07T12:36:54.371238+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5389","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: AXIN1 as Green List (high evidence)","entity_name":"AXIN1","entity_type":"gene"},{"created":"2023-09-07T12:36:54.357057+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5389","user_name":"Elena Savva","item_type":"entity","text":"Gene: axin1 has been classified as Green List (High Evidence).","entity_name":"AXIN1","entity_type":"gene"},{"created":"2023-09-07T12:36:47.037226+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.128","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: AXIN1 as ready","entity_name":"AXIN1","entity_type":"gene"},{"created":"2023-09-07T12:36:47.020744+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.128","user_name":"Elena Savva","item_type":"entity","text":"Gene: axin1 has been classified as Red List (Low Evidence).","entity_name":"AXIN1","entity_type":"gene"},{"created":"2023-09-07T12:36:43.940349+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1150","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: AXIN1 as Green List (high evidence)","entity_name":"AXIN1","entity_type":"gene"},{"created":"2023-09-07T12:36:43.924112+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1150","user_name":"Elena Savva","item_type":"entity","text":"Gene: axin1 has been classified as Green List (High Evidence).","entity_name":"AXIN1","entity_type":"gene"},{"created":"2023-09-07T12:36:01.033480+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5388","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: AXIN1 as Green List (high evidence)","entity_name":"AXIN1","entity_type":"gene"},{"created":"2023-09-07T12:36:01.019601+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5388","user_name":"Elena Savva","item_type":"entity","text":"Gene: axin1 has been classified as Green List (High Evidence).","entity_name":"AXIN1","entity_type":"gene"},{"created":"2023-09-07T12:35:59.421208+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5387","user_name":"Rylee Peters","item_type":"entity","text":"gene: RAB5C was added\ngene: RAB5C was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RAB5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAB5C were set to PMID: 37552066\nPhenotypes for gene: RAB5C were set to Neurodevelopmental disorder MONDO:0700092, RAB5C-related\nPenetrance for gene: RAB5C were set to Complete\nReview for gene: RAB5C was set to GREEN\ngene: RAB5C was marked as current diagnostic\nAdded comment: 12 individuals with nine different heterozygous de novo variants in RAB5C.\r\n9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).\r\nAll has mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD). \nSources: Literature","entity_name":"RAB5C","entity_type":"gene"},{"created":"2023-09-07T12:35:39.443286+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.251","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: AXIN1 as Green List (high evidence)","entity_name":"AXIN1","entity_type":"gene"},{"created":"2023-09-07T12:35:39.428067+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.251","user_name":"Elena Savva","item_type":"entity","text":"Gene: axin1 has been classified as Green List (High Evidence).","entity_name":"AXIN1","entity_type":"gene"},{"created":"2023-09-07T12:35:29.039829+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5387","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: AXIN1 as ready","entity_name":"AXIN1","entity_type":"gene"},{"created":"2023-09-07T12:35:29.030249+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5387","user_name":"Elena Savva","item_type":"entity","text":"Gene: axin1 has been classified as Red List (Low Evidence).","entity_name":"AXIN1","entity_type":"gene"},{"created":"2023-09-07T12:35:07.676373+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5387","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: COL4A3BP.","entity_name":"COL4A3BP","entity_type":"gene"},{"created":"2023-09-07T12:35:02.375349+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.250","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: AXIN1 as ready","entity_name":"AXIN1","entity_type":"gene"},{"created":"2023-09-07T12:35:02.362853+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.250","user_name":"Elena Savva","item_type":"entity","text":"Gene: axin1 has been classified as Green List (High Evidence).","entity_name":"AXIN1","entity_type":"gene"},{"created":"2023-09-07T12:34:53.430575+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.250","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: AXIN1 as ready","entity_name":"AXIN1","entity_type":"gene"},{"created":"2023-09-07T12:34:53.416310+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.250","user_name":"Elena Savva","item_type":"entity","text":"Gene: axin1 has been classified as Green List (High Evidence).","entity_name":"AXIN1","entity_type":"gene"},{"created":"2023-09-07T12:34:51.263099+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.250","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: AXIN1 as Green List (high evidence)","entity_name":"AXIN1","entity_type":"gene"},{"created":"2023-09-07T12:34:51.246041+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.250","user_name":"Elena Savva","item_type":"entity","text":"Gene: axin1 has been classified as Green List (High Evidence).","entity_name":"AXIN1","entity_type":"gene"},{"created":"2023-09-07T12:34:03.203927+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.140","user_name":"Lilian Downie","item_type":"entity","text":"gene: LNPK was added\ngene: LNPK was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: LNPK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LNPK were set to PMID: 30032983, PMID:35599435, https://academic.oup.com/braincomms/advance-article/doi/10.1093/braincomms/fcad222/7243438?login=true\nPhenotypes for gene: LNPK were set to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum MIM#618090\nReview for gene: LNPK was set to GREEN\nAdded comment: Moderate to severe ID, majority of patients 10/15 have period of regression\r\nEpilepsy (myoclonic frequently)\r\nStructural brain anomalies 'ear of the lynx sign', callosal hypoplasia, mild brain including cerebellar atrophy.\r\nMicrocephaly, macrocephaly and normal head circumference described. \nSources: Literature","entity_name":"LNPK","entity_type":"gene"},{"created":"2023-09-07T12:33:43.717665+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1149","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: COL4A3BP.","entity_name":"COL4A3BP","entity_type":"gene"},{"created":"2023-09-07T12:33:12.757061+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1911","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPP1R3F as ready","entity_name":"PPP1R3F","entity_type":"gene"},{"created":"2023-09-07T12:33:12.747836+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1911","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppp1r3f has been classified as Green List (High Evidence).","entity_name":"PPP1R3F","entity_type":"gene"},{"created":"2023-09-07T12:33:08.609211+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1911","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PPP1R3F as Green List (high evidence)","entity_name":"PPP1R3F","entity_type":"gene"},{"created":"2023-09-07T12:33:08.581356+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1911","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppp1r3f has been classified as Green List (High Evidence).","entity_name":"PPP1R3F","entity_type":"gene"},{"created":"2023-09-07T12:31:43.592645+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1910","user_name":"Andrew Fennell","item_type":"entity","text":"gene: PPP1R3F was added\ngene: PPP1R3F was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PPP1R3F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PPP1R3F were set to 37531237\nPhenotypes for gene: PPP1R3F were set to Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related\nReview for gene: PPP1R3F was set to GREEN\nAdded comment: 13 unrelated hemizygous individuals with a neurodevelopmental disorder were reported, with functional evidence.\r\n6/13 (46%) were reported with heterogeneous seizure types including generalized, nocturnal, tonic, atonic, focal, myoclonic, and atypical absence. \nSources: Literature","entity_name":"PPP1R3F","entity_type":"gene"},{"created":"2023-09-07T12:31:30.742291+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.140","user_name":"Chern Lim","item_type":"entity","text":"gene: DBR1 was added\ngene: DBR1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DBR1 were set to 37656279\nPhenotypes for gene: DBR1 were set to Prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation, and death before the first year of life\nReview for gene: DBR1 was set to AMBER\ngene: DBR1 was marked as current diagnostic\nAdded comment: PMID: 37656279:\r\n-\tA homozygous missense as a founder recessive DBR1 variant in four consanguineous families.\r\n-\tConsistent features include prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation (collodion membrane, severe skin peeling and xerosis), and death before the first year of life.\r\n-\tRNA and protein studies using fibroblasts derived from a patient are supportive of pathogenicity: RNA-seq, rt-qPCR and western blotting, showing marked reduction of DBR1 level and intronic RNA lariat accumulation in the patient sample.\r\n-\tHaplotype analysis revealed that the four families all share a haplotype extending at least 2.27 Mb around the c.200A>G p.(Tyr67Cys) DBR1 founder variant.\r\n-\tAuthors proposed this is a novel DBR1-related developmental disorder that is distinct from DBR1-related encephalitis susceptibility, and highlighted the apparent lack of correlation with the degree of DBR1 deficiency. \nSources: Literature","entity_name":"DBR1","entity_type":"gene"},{"created":"2023-09-07T12:31:26.758743+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"1.4","user_name":"Chern Lim","item_type":"entity","text":"gene: DBR1 was added\ngene: DBR1 was added to Ichthyosis. Sources: Literature\nMode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DBR1 were set to 37656279\nPhenotypes for gene: DBR1 were set to Prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation, and death before the first year of life\nReview for gene: DBR1 was set to AMBER\ngene: DBR1 was marked as current diagnostic\nAdded comment: PMID: 37656279:\r\n-\tA homozygous missense as a founder recessive DBR1 variant in four consanguineous families.\r\n-\tConsistent features include prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation (collodion membrane, severe skin peeling and xerosis), and death before the first year of life.\r\n-\tRNA and protein studies using fibroblasts derived from a patient are supportive of pathogenicity: RNA-seq, rt-qPCR and western blotting, showing marked reduction of DBR1 level and intronic RNA lariat accumulation in the patient sample.\r\n-\tHaplotype analysis revealed that the four families all share a haplotype extending at least 2.27 Mb around the c.200A>G p.(Tyr67Cys) DBR1 founder variant.\r\n-\tAuthors proposed this is a novel DBR1-related developmental disorder that is distinct from DBR1-related encephalitis susceptibility, and highlighted the apparent lack of correlation with the degree of DBR1 deficiency. \nSources: Literature","entity_name":"DBR1","entity_type":"gene"},{"created":"2023-09-07T12:30:39.808635+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5387","user_name":"Elena Savva","item_type":"entity","text":"gene: AXIN1 was added\ngene: AXIN1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: AXIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AXIN1 were set to PMID: 37582359\nPhenotypes for gene: AXIN1 were set to Syndromic disease,  (MONDO:0002254), AXIN1-related\nReview for gene: AXIN1 was set to GREEN\nAdded comment: PMID: 37582359 \r\n- four families (7 individuals) with three homozygous truncating variants. \r\n- all variant shown to result in reduced protein, though 1/3 would be NMD predicted\r\n- Probands had macrocephaly (4/6), GDD (3/7), hip dysplasia (5/6), cardiac anomalies eg. VSD/ASD (3/7), cranial hyperostosis and vertebral endplate sclerosis \nSources: Literature","entity_name":"AXIN1","entity_type":"gene"},{"created":"2023-09-07T12:30:18.772004+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.128","user_name":"Elena Savva","item_type":"entity","text":"gene: AXIN1 was added\ngene: AXIN1 was added to Macrocephaly_Megalencephaly. Sources: Literature\nMode of inheritance for gene: AXIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AXIN1 were set to PMID: 37582359\nPhenotypes for gene: AXIN1 were set to Syndromic disease,  (MONDO:0002254), AXIN1-related\nReview for gene: AXIN1 was set to GREEN\nAdded comment: PMID: 37582359 \r\n- four families (7 individuals) with three homozygous truncating variants. \r\n- all variant shown to result in reduced protein, though 1/3 would be NMD predicted\r\n- Probands had macrocephaly (4/6), GDD (3/7), hip dysplasia (5/6), cardiac anomalies eg. VSD/ASD (3/7), cranial hyperostosis and vertebral endplate sclerosis \nSources: Literature","entity_name":"AXIN1","entity_type":"gene"},{"created":"2023-09-07T12:29:36.734674+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.249","user_name":"Elena Savva","item_type":"entity","text":"gene: AXIN1 was added\ngene: AXIN1 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: AXIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AXIN1 were set to PMID: 37582359\nPhenotypes for gene: AXIN1 were set to Syndromic disease,  (MONDO:0002254), AXIN1-related\nReview for gene: AXIN1 was set to GREEN\nAdded comment: PMID: 37582359 \r\n- four families (7 individuals) with three homozygous truncating variants. \r\n- all variant shown to result in reduced protein, though 1/3 would be NMD predicted\r\n- Probands had macrocephaly (4/6), GDD (3/7), hip dysplasia (5/6), cardiac anomalies eg. VSD/ASD (3/7), cranial hyperostosis and vertebral endplate sclerosis \nSources: Literature","entity_name":"AXIN1","entity_type":"gene"},{"created":"2023-09-07T12:28:59.553847+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.140","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CUL3 as ready","entity_name":"CUL3","entity_type":"gene"},{"created":"2023-09-07T12:28:59.536820+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.140","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cul3 has been classified as Green List (High Evidence).","entity_name":"CUL3","entity_type":"gene"},{"created":"2023-09-07T12:28:52.649587+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.140","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CUL3 as Green List (high evidence)","entity_name":"CUL3","entity_type":"gene"},{"created":"2023-09-07T12:28:52.640289+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.140","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cul3 has been classified as Green List (High Evidence).","entity_name":"CUL3","entity_type":"gene"},{"created":"2023-09-07T12:28:16.523696+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.505","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LNPK as ready","entity_name":"LNPK","entity_type":"gene"},{"created":"2023-09-07T12:28:16.505859+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.505","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lnpk has been classified as Green List (High Evidence).","entity_name":"LNPK","entity_type":"gene"},{"created":"2023-09-07T12:28:05.192810+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.505","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LNPK were set to PMID: 35599435, 30032983","entity_name":"LNPK","entity_type":"gene"},{"created":"2023-09-07T12:24:07.934530+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.533","user_name":"Lilian Downie","item_type":"entity","text":"gene: LNPK was added\ngene: LNPK was added to Regression. Sources: Literature\nMode of inheritance for gene: LNPK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LNPK were set to PMID: 35599435, https://academic.oup.com/braincomms/advance-article/doi/10.1093/braincomms/fcad222/7243438?login=true\nPhenotypes for gene: LNPK were set to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum MIM#618090\nReview for gene: LNPK was set to GREEN\nAdded comment: Moderate to severe ID, majority of patients 10/15 have period of regression \r\nEpilepsy (myoclonic frequently) \r\nStructural brain anomalies 'ear of the lynx sign', callosal hypoplasia, mild brain including cerebellar atrophy. \r\nMicrocephaly, macrocephaly and normal head circumference described. \nSources: Literature","entity_name":"LNPK","entity_type":"gene"},{"created":"2023-09-07T12:23:56.402427+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.139","user_name":"Lucy Spencer","item_type":"entity","text":"gene: CUL3 was added\ngene: CUL3 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: CUL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CUL3 were set to 37665043\nPhenotypes for gene: CUL3 were set to Neurodevelopmental disorder with or without autism or seizures (MIM#619239); Pseudohypoaldosteronism, type IIE (MIM#614496)\nReview for gene: CUL3 was set to GREEN\nAdded comment: PMID: 37665043\r\n1 case study and a review of the literature. 5 patients with de novo variants (PTCs and missense) in CUL3 who have various cardiac phenotypes: atrial septal defects, left ventricular outflow tract obstruction. Hypertrophic right ventricle pulmonary atresia, and other congenital heart defects. 2 of these patients have a neurological phenotype as well, while the other three are not reported to have one (but at least one was a terminated pregnancy). \nSources: Literature","entity_name":"CUL3","entity_type":"gene"},{"created":"2023-09-07T12:23:01.546141+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.294","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CUL3 as ready","entity_name":"CUL3","entity_type":"gene"},{"created":"2023-09-07T12:23:01.525900+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.294","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cul3 has been classified as Green List (High Evidence).","entity_name":"CUL3","entity_type":"gene"},{"created":"2023-09-07T12:22:59.195572+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.294","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CUL3 were changed from Neurodevelopmental disorder with or without autism or seizures (MIM#619239); Pseudohypoaldosteronism, type IIE (MIM#614496) to Neurodevelopmental disorder with or without autism or seizures (MIM#619239)","entity_name":"CUL3","entity_type":"gene"},{"created":"2023-09-07T12:22:24.667119+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.293","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CUL3 as Green List (high evidence)","entity_name":"CUL3","entity_type":"gene"},{"created":"2023-09-07T12:22:24.655144+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.293","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cul3 has been classified as Green List (High Evidence).","entity_name":"CUL3","entity_type":"gene"},{"created":"2023-09-07T12:21:51.766947+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1149","user_name":"Andrew Fennell","item_type":"entity","text":"changed review comment from: Sources: Literature; to: 13 unrelated hemizygous individuals reported with functional evidence\r\nSources: Literature","entity_name":"PPP1R3F","entity_type":"gene"},{"created":"2023-09-07T12:20:46.144176+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1149","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPP1R3F as ready","entity_name":"PPP1R3F","entity_type":"gene"},{"created":"2023-09-07T12:20:46.128492+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1149","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppp1r3f has been classified as Green List (High Evidence).","entity_name":"PPP1R3F","entity_type":"gene"},{"created":"2023-09-07T12:20:16.022839+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1149","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PPP1R3F as Green List (high evidence)","entity_name":"PPP1R3F","entity_type":"gene"},{"created":"2023-09-07T12:20:16.011227+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1149","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppp1r3f has been classified as Green List (High Evidence).","entity_name":"PPP1R3F","entity_type":"gene"},{"created":"2023-09-07T12:19:46.934883+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1148","user_name":"Andrew Fennell","item_type":"entity","text":"gene: PPP1R3F was added\ngene: PPP1R3F was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PPP1R3F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PPP1R3F were set to 37531237\nPhenotypes for gene: PPP1R3F were set to Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related\nReview for gene: PPP1R3F was set to GREEN\nAdded comment: Sources: Literature","entity_name":"PPP1R3F","entity_type":"gene"},{"created":"2023-09-07T12:19:46.822053+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5386","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPP1R3F as ready","entity_name":"PPP1R3F","entity_type":"gene"},{"created":"2023-09-07T12:19:46.811872+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5386","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppp1r3f has been classified as Green List (High Evidence).","entity_name":"PPP1R3F","entity_type":"gene"},{"created":"2023-09-07T12:19:31.745992+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5386","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PPP1R3F as Green List (high evidence)","entity_name":"PPP1R3F","entity_type":"gene"},{"created":"2023-09-07T12:19:31.734463+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5386","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppp1r3f has been classified as Green List (High Evidence).","entity_name":"PPP1R3F","entity_type":"gene"},{"created":"2023-09-07T12:19:18.917831+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.504","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: LNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: https://academic.oup.com/braincomms/advance-article/doi/10.1093/braincomms/fcad222/7243438?login=true; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LNPK","entity_type":"gene"},{"created":"2023-09-07T12:17:06.318149+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.292","user_name":"Lucy Spencer","item_type":"entity","text":"gene: CUL3 was added\ngene: CUL3 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: CUL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CUL3 were set to 37665043\nPhenotypes for gene: CUL3 were set to Neurodevelopmental disorder with or without autism or seizures (MIM#619239); Pseudohypoaldosteronism, type IIE (MIM#614496)\nReview for gene: CUL3 was set to GREEN\nAdded comment: PMID: 37665043\r\n1 case study and a review of the literature. 5 patients with de novo variants (PTCs and missense) in CUL3 who have various cardiac phenotypes: atrial septal defects, left ventricular outflow tract obstruction. Hypertrophic right ventricle pulmonary atresia, and other congenital heart defects. 2 of these patients have a neurological phenotype as well, while the other three are not reported to have one (but at least one was a terminated pregnancy). \nSources: Literature","entity_name":"CUL3","entity_type":"gene"},{"created":"2023-09-07T12:15:52.727286+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5385","user_name":"Andrew Fennell","item_type":"entity","text":"gene: PPP1R3F was added\ngene: PPP1R3F was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PPP1R3F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PPP1R3F were set to 37531237\nPhenotypes for gene: PPP1R3F were set to Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related\nReview for gene: PPP1R3F was set to GREEN\nAdded comment: 13 unrelated hemizygous individuals reported with functional evidence \nSources: Literature","entity_name":"PPP1R3F","entity_type":"gene"},{"created":"2023-09-07T12:09:41.151823+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.260","user_name":"Claire Fryer-Smith","item_type":"entity","text":"reviewed gene: RAB39B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25434005, 26399558, 26739247; Phenotypes: Waisman syndrome (MIM#311510), Intellectual developmental disorder, X-linked 72 (MIM#300271); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"RAB39B","entity_type":"gene"},{"created":"2023-09-05T11:39:57.932704+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.292","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: LAMA3 as ready","entity_name":"LAMA3","entity_type":"gene"},{"created":"2023-09-05T11:39:57.922565+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.292","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: lama3 has been classified as Amber List (Moderate Evidence).","entity_name":"LAMA3","entity_type":"gene"},{"created":"2023-09-05T10:14:47.793344+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"0.164","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: PTEN: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: PTEN hamartoma tumour syndrome (MONDO#0017623); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"PTEN","entity_type":"gene"},{"created":"2023-09-05T10:14:45.112012+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"1.10","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: PTEN: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: PTEN hamartoma tumour syndrome (MONDO#0017623); Mode of inheritance: None","entity_name":"PTEN","entity_type":"gene"},{"created":"2023-09-05T09:32:44.806204+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1148","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: LAMA3 were set to 7633458; 8530087; 11810295; 10366601","entity_name":"LAMA3","entity_type":"gene"},{"created":"2023-09-05T09:32:30.963394+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.292","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: LAMA3 as Amber List (moderate evidence)","entity_name":"LAMA3","entity_type":"gene"},{"created":"2023-09-05T09:32:30.954612+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.292","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: lama3 has been classified as Amber List (Moderate Evidence).","entity_name":"LAMA3","entity_type":"gene"},{"created":"2023-09-05T09:31:34.402856+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.291","user_name":"Bryony Thompson","item_type":"entity","text":"gene: LAMA3 was added\ngene: LAMA3 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: LAMA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LAMA3 were set to 37635785\nPhenotypes for gene: LAMA3 were set to Ebstein anomaly MONDO:0009144\nReview for gene: LAMA3 was set to AMBER\nAdded comment: Single study with heterozygous nonsense variants identified in LAMA3 in two families with incomplete penetrance (a trio with one unaffected parent and a family with 2 affected and 1 unaffected carrier). p.Arg1126Ter has 5 hets in gnomAD v2.1 & p.Gln1507Ter has 4 hets in gnomAD v2.1. Variant filtering (including CNV detection algorithms) was conducted on WGS/WES from the trio and 2 affected individuals from the family. \r\nCardiac phenotypes in carriers of the junctional EB families harbouring LAMA3 pathogenic variants have not been reported. Lama3 +/- mice demonstrated abnormalities in the tricuspid valve and RV, similar to phenotypes observed in human Ebstein’s anomaly. Lama3 -/- mice were embryonic lethal. \nSources: Literature","entity_name":"LAMA3","entity_type":"gene"},{"created":"2023-09-05T08:51:24.281238+10:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.30","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FTH1 as ready","entity_name":"FTH1","entity_type":"gene"},{"created":"2023-09-05T08:51:24.265984+10:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.30","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fth1 has been classified as Green List (High Evidence).","entity_name":"FTH1","entity_type":"gene"},{"created":"2023-09-05T08:51:01.100875+10:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.30","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FTH1 as Green List (high evidence)","entity_name":"FTH1","entity_type":"gene"},{"created":"2023-09-05T08:51:01.095611+10:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.30","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Article describing the gene-disease association with neuroferritinopathy now published in HGG advances","entity_name":"FTH1","entity_type":"gene"},{"created":"2023-09-05T08:51:01.056634+10:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.30","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fth1 has been classified as Green List (High Evidence).","entity_name":"FTH1","entity_type":"gene"},{"created":"2023-09-05T08:50:45.278283+10:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FTH1 were set to 36778397","entity_name":"FTH1","entity_type":"gene"},{"created":"2023-09-05T08:50:29.311875+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.62","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FTH1 were set to 36778397","entity_name":"FTH1","entity_type":"gene"},{"created":"2023-09-05T08:50:01.033241+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.61","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FTH1 as Green List (high evidence)","entity_name":"FTH1","entity_type":"gene"},{"created":"2023-09-05T08:50:01.025288+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.61","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Article describing the gene-disease association with neuroferritinopathy now published in HGG advances","entity_name":"FTH1","entity_type":"gene"},{"created":"2023-09-05T08:50:00.982597+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.61","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fth1 has been classified as Green List (High Evidence).","entity_name":"FTH1","entity_type":"gene"},{"created":"2023-09-05T08:47:36.695132+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.533","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FTH1 were set to 36778397","entity_name":"FTH1","entity_type":"gene"},{"created":"2023-09-05T08:44:25.496715+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.532","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FTH1 as Green List (high evidence)","entity_name":"FTH1","entity_type":"gene"},{"created":"2023-09-05T08:44:25.490059+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.532","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Article describing the gene-disease association with neuroferritinopathy now published in HGG advances","entity_name":"FTH1","entity_type":"gene"},{"created":"2023-09-05T08:44:25.444096+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.532","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fth1 has been classified as Green List (High Evidence).","entity_name":"FTH1","entity_type":"gene"},{"created":"2023-09-04T17:27:26.671374+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1147","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FTH1 were set to 11389486; 36778397","entity_name":"FTH1","entity_type":"gene"},{"created":"2023-09-04T17:26:54.648392+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1146","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of pathogenicity for gene: FTH1 was changed from None to Other","entity_name":"FTH1","entity_type":"gene"},{"created":"2023-09-04T17:26:17.534715+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1145","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FTH1 as Green List (high evidence)","entity_name":"FTH1","entity_type":"gene"},{"created":"2023-09-04T17:26:17.529451+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1145","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Article describing the gene-disease association with neuroferritinopathy now published in HGG advances","entity_name":"FTH1","entity_type":"gene"},{"created":"2023-09-04T17:26:17.486503+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1145","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fth1 has been classified as Green List (High Evidence).","entity_name":"FTH1","entity_type":"gene"},{"created":"2023-09-04T15:59:10.073288+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1144","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: C3 were changed from C3 deficiency MIM#613779 to C3 deficiency MIM#613779; C3 deficiency MIM#613779; {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925","entity_name":"C3","entity_type":"gene"},{"created":"2023-09-04T15:58:47.357776+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1143","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: C3 were set to 15781264; 1944729; 11813855; 26847111","entity_name":"C3","entity_type":"gene"},{"created":"2023-09-04T15:58:45.219259+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1143","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: C3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"C3","entity_type":"gene"},{"created":"2023-09-04T15:58:09.341186+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1142","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: C3: Changed phenotypes: C3 deficiency MIM#613779, {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925","entity_name":"C3","entity_type":"gene"},{"created":"2023-09-04T15:57:50.737827+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1142","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: C3: Added comment: Multiple individuals reported with mono-allelic variants and aHUS. At least one report of biallelic variants.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"C3","entity_type":"gene"},{"created":"2023-09-04T15:29:21.601356+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5385","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATM as ready","entity_name":"ATM","entity_type":"gene"}]}