{"count":220842,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=723","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=721","results":[{"created":"2022-10-06T16:28:20.902711+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.375","user_name":"Elena Savva","item_type":"entity","text":"gene: SCNM1 was added\ngene: SCNM1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SCNM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCNM1 were set to PMID: 36084634\nPhenotypes for gene: SCNM1 were set to Ciliopathy, SCNM1-related, MONDO:0005308\nReview for gene: SCNM1 was set to GREEN\nAdded comment: Iturrate (2022): three unrelated families (4 affected) w/ OFD, polydactyly, syndactyly and brachydactyly. All had biallelic variants (fs, missense, AluYc1 sequence insertion) and were consanguinous\r\n- the missense variant was shown to have a splice outcome \nSources: Literature","entity_name":"SCNM1","entity_type":"gene"},{"created":"2022-10-06T15:56:23.004181+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.345","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LETM1 as ready","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:56:22.995513+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.345","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: letm1 has been classified as Green List (High Evidence).","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:56:17.003680+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.345","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LETM1 as Green List (high evidence)","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:56:16.993823+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.345","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: letm1 has been classified as Green List (High Evidence).","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:54:00.802934+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4977","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LETM1 as ready","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:54:00.790492+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4977","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: letm1 has been classified as Green List (High Evidence).","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:52:46.921772+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4977","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LETM1 as Green List (high evidence)","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:52:46.913223+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4977","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: letm1 has been classified as Green List (High Evidence).","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:51:50.755058+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.149","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LETM1 as ready","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:51:50.744093+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.149","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: letm1 has been classified as Green List (High Evidence).","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:50:04.000132+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.149","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LETM1 as Green List (high evidence)","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:50:03.991210+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.149","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: letm1 has been classified as Green List (High Evidence).","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:48:29.033240+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.839","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LETM1 as ready","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:48:29.024365+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.839","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: letm1 has been classified as Green List (High Evidence).","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:48:28.447940+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.839","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LETM1 as Green List (high evidence)","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:48:28.441321+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.839","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: letm1 has been classified as Green List (High Evidence).","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:47:31.143733+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.838","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LETM1 as Green List (high evidence)","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:47:31.135323+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.838","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: letm1 has been classified as Green List (High Evidence).","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:44:59.433900+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.837","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LETM1 as Green List (high evidence)","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:44:59.425792+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.837","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: letm1 has been classified as Green List (High Evidence).","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:42:37.392896+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1690","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LETM1 as ready","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:42:37.384679+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1690","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: letm1 has been classified as Green List (High Evidence).","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:42:32.357727+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1690","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LETM1 as Green List (high evidence)","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:42:32.350269+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1690","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: letm1 has been classified as Green List (High Evidence).","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:36:28.082819+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.374","user_name":"Dean Phelan","item_type":"entity","text":"reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36067010, 32848577; Phenotypes: Neurodevelopmental disorder, DEPDC5-related, MONDO:0700092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-10-06T15:36:27.173198+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.75","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNK3 as ready","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T15:36:27.164532+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnk3 has been classified as Green List (High Evidence).","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T15:36:08.341400+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.75","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KCNK3 as Green List (high evidence)","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T15:36:08.333035+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnk3 has been classified as Green List (High Evidence).","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T15:32:25.692191+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.161","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNK3 as ready","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T15:32:25.684602+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.161","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnk3 has been classified as Green List (High Evidence).","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T15:32:01.299345+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.161","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KCNK3 as Green List (high evidence)","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T15:32:01.291690+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.161","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnk3 has been classified as Green List (High Evidence).","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T15:31:28.528164+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNK3 as ready","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T15:31:28.520587+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnk3 has been classified as Green List (High Evidence).","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T15:31:14.513903+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KCNK3 as Green List (high evidence)","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T15:31:14.506514+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnk3 has been classified as Green List (High Evidence).","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T15:30:40.757954+11:00","panel_name":"Central Hypoventilation","panel_id":71,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNK3 as ready","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T15:30:40.749509+11:00","panel_name":"Central Hypoventilation","panel_id":71,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnk3 has been classified as Green List (High Evidence).","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T15:30:27.308492+11:00","panel_name":"Central Hypoventilation","panel_id":71,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KCNK3 as Green List (high evidence)","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T15:30:27.299497+11:00","panel_name":"Central Hypoventilation","panel_id":71,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnk3 has been classified as Green List (High Evidence).","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T15:30:00.854292+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4976","user_name":"Dean Phelan","item_type":"entity","text":"reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36067010, 32848577; Phenotypes: Neurodevelopmental disorder, DEPDC5-related, MONDO:0700092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-10-06T15:29:50.615401+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.357","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNK3 as ready","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T15:29:50.606589+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.357","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnk3 has been classified as Green List (High Evidence).","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T15:29:48.484150+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.36","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCNM1 as Green List (high evidence)","entity_name":"SCNM1","entity_type":"gene"},{"created":"2022-10-06T15:29:48.477058+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scnm1 has been classified as Green List (High Evidence).","entity_name":"SCNM1","entity_type":"gene"},{"created":"2022-10-06T15:29:18.707221+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.357","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KCNK3 as Green List (high evidence)","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T15:29:18.700838+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.357","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnk3 has been classified as Green List (High Evidence).","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T15:29:06.236927+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1689","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LETM1 as Green List (high evidence)","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:29:06.228796+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1689","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: letm1 has been classified as Green List (High Evidence).","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:28:41.132067+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.356","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KCNK3 as Green List (high evidence)","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T15:28:41.120801+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.356","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnk3 has been classified as Green List (High Evidence).","entity_name":"KCNK3","entity_type":"gene"},{"created":"2022-10-06T15:27:30.611229+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.374","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LETM1 as ready","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:27:30.597001+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.374","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: letm1 has been classified as Green List (High Evidence).","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:27:20.105766+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.374","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:27:07.466564+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DEPDC5 as ready","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-10-06T15:27:07.457523+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: depdc5 has been classified as Green List (High Evidence).","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-10-06T15:27:02.107791+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DEPDC5 as Green List (high evidence)","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-10-06T15:27:02.098869+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: depdc5 has been classified as Green List (High Evidence).","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-10-06T15:26:54.396648+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.374","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LETM1 as Green List (high evidence)","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:26:54.389080+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.374","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: letm1 has been classified as Green List (High Evidence).","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:26:09.806040+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DACT1 as ready","entity_name":"DACT1","entity_type":"gene"},{"created":"2022-10-06T15:26:09.796463+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dact1 has been classified as Red List (Low Evidence).","entity_name":"DACT1","entity_type":"gene"},{"created":"2022-10-06T15:25:52.226748+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.178","user_name":"Dean Phelan","item_type":"entity","text":"gene: DEPDC5 was added\ngene: DEPDC5 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: DEPDC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DEPDC5 were set to PMID: 36067010; 32848577\nPhenotypes for gene: DEPDC5 were set to Neurodevelopmental disorder, DEPDC5-related, MONDO:0700092\nMode of pathogenicity for gene: DEPDC5 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: DEPDC5 was set to GREEN\nAdded comment: PMID: 36067010 - Homozygous missense variants were identified in five families (3x Irish Traveller families with same variant; and 1x Tunisian and 1x Lebanese families with the same variant; ie. 2 different variants only) in 9 children with consistent phenotypic features including extensive bilateral polymicrogyria, congenital macrocephaly, early onset refractory epilepsy and severe developmental delay. Skin biopsy immunohistochemistry suggested hyperactivation of the mTOR pathway. Disease mechanism is LOF as DEPDC5 is a repressor/inhibitor within the mTOR pathway.\r\n\r\nPMID: 32848577 - A different homozygous missense variant was identified in a child with focal cortical dysplasia and childhood onset epilepsy. \nSources: Literature","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-10-06T15:25:43.352608+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1688","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GABBR1 as Green List (high evidence)","entity_name":"GABBR1","entity_type":"gene"},{"created":"2022-10-06T15:25:43.345138+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1688","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gabbr1 has been classified as Green List (High Evidence).","entity_name":"GABBR1","entity_type":"gene"},{"created":"2022-10-06T15:25:36.462316+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.373","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DACT1 as Amber List (moderate evidence)","entity_name":"DACT1","entity_type":"gene"},{"created":"2022-10-06T15:25:36.455398+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.373","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dact1 has been classified as Amber List (Moderate Evidence).","entity_name":"DACT1","entity_type":"gene"},{"created":"2022-10-06T15:25:27.880913+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LETM1 as Green List (high evidence)","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:25:27.835644+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: letm1 has been classified as Green List (High Evidence).","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:25:04.777663+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DACT1 as Amber List (moderate evidence)","entity_name":"DACT1","entity_type":"gene"},{"created":"2022-10-06T15:25:04.769045+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dact1 has been classified as Amber List (Moderate Evidence).","entity_name":"DACT1","entity_type":"gene"},{"created":"2022-10-06T15:24:57.895222+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LETM1 as ready","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:24:57.885357+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: letm1 has been classified as Green List (High Evidence).","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:24:37.289049+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1687","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DEPDC5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-10-06T15:24:08.592115+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LETM1 as Green List (high evidence)","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:24:08.581385+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: letm1 has been classified as Green List (High Evidence).","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:23:33.278962+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.372","user_name":"Ee Ming Wong","item_type":"entity","text":"gene: LETM1 was added\ngene: LETM1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LETM1 were set to 36055214\nPhenotypes for gene: LETM1 were set to Mitochondrial disease MONDO#0044970, LETM1-related\ngene: LETM1 was marked as current diagnostic\nAdded comment: -18 affected individuals from 11 unrelated families harbouring ultra-rare bi-allelic missense and loss-of-function LETM1 variants\r\n-Most of the affected individuals (14/18, 78%) had an infantile-onset disease manifestation,\r\nand 4/18 (22%) presented first symptoms between the ages of 1.5 and 2 years\r\n-Variant types included missense, frameshift, stop loss, in-frame deletion and splice defect\r\n-From biochemical and morphological studies, bi-allelic LETM1 variants are associated with defective mitochondrial K efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components \nSources: Literature","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:23:12.394134+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1687","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GABBR1 as ready","entity_name":"GABBR1","entity_type":"gene"},{"created":"2022-10-06T15:23:12.386815+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1687","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gabbr1 has been classified as Green List (High Evidence).","entity_name":"GABBR1","entity_type":"gene"},{"created":"2022-10-06T15:22:51.872784+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1687","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GABBR1 as Green List (high evidence)","entity_name":"GABBR1","entity_type":"gene"},{"created":"2022-10-06T15:22:51.812259+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1687","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gabbr1 has been classified as Green List (High Evidence).","entity_name":"GABBR1","entity_type":"gene"},{"created":"2022-10-06T15:22:04.937277+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1686","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DEPDC5 were changed from Epilepsy, familial focal, with variable foci 1 MIM#604364 to Epilepsy, familial focal, with variable foci 1 MIM#604364; Neurodevelopmental disorder, DEPDC5-related, MONDO:0700092","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-10-06T15:21:36.380685+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1685","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DEPDC5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-10-06T15:20:33.176342+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1684","user_name":"Ee Ming Wong","item_type":"entity","text":"gene: LETM1 was added\ngene: LETM1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LETM1 were set to 36055214\nPhenotypes for gene: LETM1 were set to Mitochondrial disease MONDO#0044970, LETM1-related\nReview for gene: LETM1 was set to GREEN\ngene: LETM1 was marked as current diagnostic\nAdded comment: -18 affected individuals from 11 unrelated families harbouring ultra-rare bi-allelic missense and loss-of-function LETM1 variants\r\n-Most of the affected individuals (14/18, 78%) had an infantile-onset disease manifestation,\r\nand 4/18 (22%) presented first symptoms between the ages of 1.5 and 2 years\r\n-Variant types included missense, frameshift, stop loss, in-frame deletion and splice defect\r\n-From biochemical and morphological studies, bi-allelic LETM1 variants are associated with defective mitochondrial K efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components \nSources: Literature","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:20:23.727264+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1684","user_name":"Karina Sandoval","item_type":"entity","text":"reviewed gene: GABBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:36103875; Phenotypes: Neurodevelopmental disorder, GABBR1-related, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GABBR1","entity_type":"gene"},{"created":"2022-10-06T15:18:17.638500+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.344","user_name":"Ee Ming Wong","item_type":"entity","text":"gene: LETM1 was added\ngene: LETM1 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LETM1 were set to 36055214\nPhenotypes for gene: LETM1 were set to Mitochondrial disease MONDO#0044970, LETM1-related\nReview for gene: LETM1 was set to GREEN\ngene: LETM1 was marked as current diagnostic\nAdded comment: -18 affected individuals from 11 unrelated families harbouring ultra-rare bi-allelic missense and loss-of-function LETM1 variants\r\n-Most of the affected individuals (14/18, 78%) had an infantile-onset disease manifestation,\r\nand 4/18 (22%) presented first symptoms between the ages of 1.5 and 2 years\r\n-Variant types included missense, frameshift, stop loss, in-frame deletion and splice defect\r\n-From biochemical and morphological studies, bi-allelic LETM1 variants are associated with defective mitochondrial K efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components \nSources: Literature","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:17:50.493301+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1684","user_name":"Karina Sandoval","item_type":"entity","text":"gene: GABBR1 was added\ngene: GABBR1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: GABBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GABBR1 were set to PMID:36103875\nPhenotypes for gene: GABBR1 were set to Neurodevelopmental disorder, GABBR1-related, MONDO:0700092","entity_name":"GABBR1","entity_type":"gene"},{"created":"2022-10-06T15:15:51.258481+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.372","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: GABRG1 as ready","entity_name":"GABRG1","entity_type":"gene"},{"created":"2022-10-06T15:15:51.250394+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.372","user_name":"Seb Lunke","item_type":"entity","text":"Gene: gabrg1 has been classified as Red List (Low Evidence).","entity_name":"GABRG1","entity_type":"gene"},{"created":"2022-10-06T15:15:49.929231+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.372","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GABBR1 as ready","entity_name":"GABBR1","entity_type":"gene"},{"created":"2022-10-06T15:15:49.917379+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.372","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gabbr1 has been classified as Green List (High Evidence).","entity_name":"GABBR1","entity_type":"gene"},{"created":"2022-10-06T15:15:28.623218+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.35","user_name":"Elena Savva","item_type":"entity","text":"gene: SCNM1 was added\ngene: SCNM1 was added to Ciliopathies. Sources: Literature\nMode of inheritance for gene: SCNM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCNM1 were set to PMID: 36084634\nPhenotypes for gene: SCNM1 were set to Ciliopathy, SCNM1-related, MONDO:0005308\nReview for gene: SCNM1 was set to GREEN\nAdded comment: Iturrate (2022): three unrelated families (4 affected) w/ OFD, polydactyly, syndactyly and brachydactyly. All had biallelic variants (fs, missense, AluYc1 sequence insertion) and were consanguinous\r\n- the missense variant was shown to have a splice outcome \nSources: Literature","entity_name":"SCNM1","entity_type":"gene"},{"created":"2022-10-06T15:15:28.583615+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.372","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GABBR1 as Green List (high evidence)","entity_name":"GABBR1","entity_type":"gene"},{"created":"2022-10-06T15:15:28.573204+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.372","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gabbr1 has been classified as Green List (High Evidence).","entity_name":"GABBR1","entity_type":"gene"},{"created":"2022-10-06T15:15:26.127317+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.148","user_name":"Ee Ming Wong","item_type":"entity","text":"gene: LETM1 was added\ngene: LETM1 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LETM1 were set to 36055214\nPhenotypes for gene: LETM1 were set to Mitochondrial disease MONDO#0044970, LETM1-related\nReview for gene: LETM1 was set to GREEN\ngene: LETM1 was marked as current diagnostic\nAdded comment: -18 affected individuals from 11 unrelated families harbouring ultra-rare bi-allelic missense and loss-of-function LETM1 variants\r\n-Most of the affected individuals (14/18, 78%) had an infantile-onset disease manifestation,\r\nand 4/18 (22%) presented first symptoms between the ages of 1.5 and 2 years\r\n-Variant types included missense, frameshift, stop loss, in-frame deletion and splice defect\r\n-From biochemical and morphological studies, bi-allelic LETM1 variants are associated with defective mitochondrial K efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components \nSources: Literature","entity_name":"LETM1","entity_type":"gene"},{"created":"2022-10-06T15:15:05.166370+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.371","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GABBR1 was added\ngene: GABBR1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GABBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GABBR1 were set to 36103875\nPhenotypes for gene: GABBR1 were set to Neurodevelopmental disorder, GABBR1-related, MONDO:0700092\nReview for gene: GABBR1 was set to GREEN\nAdded comment: Four individuals with de novo variants in this gene and varying severity of DD/ID, seizures and hypotonia. \nSources: Literature","entity_name":"GABBR1","entity_type":"gene"},{"created":"2022-10-06T15:15:02.552500+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.371","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: GABRG1 as Red List (low evidence)","entity_name":"GABRG1","entity_type":"gene"},{"created":"2022-10-06T15:15:02.543281+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.371","user_name":"Seb Lunke","item_type":"entity","text":"Gene: gabrg1 has been classified as Red List (Low Evidence).","entity_name":"GABRG1","entity_type":"gene"}]}