{"count":221413,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=569","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=567","results":[{"created":"2023-08-03T12:31:33.350008+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.132","user_name":"Elena Savva","item_type":"entity","text":"Gene: senp7 has been classified as Amber List (Moderate Evidence).","entity_name":"SENP7","entity_type":"gene"},{"created":"2023-08-03T12:31:07.794278+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.131","user_name":"Elena Savva","item_type":"entity","text":"gene: SENP7 was added\ngene: SENP7 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: SENP7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SENP7 were set to PMID: 37460201\nPhenotypes for gene: SENP7 were set to Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related\nReview for gene: SENP7 was set to AMBER\nAdded comment: PMID: 37460201\r\n- 1 family (4 affecteds, sibling pair and 1st cousin) with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia. Fetus could not be tested, so 3 confirmed genetically.\r\n- Homozygous for a PTC, decreased mRNA from one sample supports an NMD outcome.\r\n- Additional studies performed supporting downstream proteins expression being affected\r\n- Neutropenia observed in 2/3 patients \nSources: Literature","entity_name":"SENP7","entity_type":"gene"},{"created":"2023-08-03T12:30:57.308948+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.1","user_name":"Krithika Murali","item_type":"entity","text":"gene: SLC4A10 was added\ngene: SLC4A10 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC4A10 were set to PMID: 37459438\nPhenotypes for gene: SLC4A10 were set to Neurodevelopmental disorderMONDO:0700092, SLC4A10-related\nReview for gene: SLC4A10 was set to GREEN\nAdded comment: PMID: 37459438 Fasham et al 2023 (Brain) report 10 affected individuals from 5 unrelated families with biallelic LoF variants in this gene with a novel neurodevelopmental disorder.\r\n\r\nPhenotypic features include hypotonia in infancy, delayed psychomotor development, typically severe ID, progressive postnatal microcephaly, ASD traits, corpus callosal abnormalities and 'slit-like' lateral ventricles. These phenotypic features were recapitulated in knockout mice with additional supportive functional studies.\r\n\r\nIsolated seizures was reported in 2/10 cases. \nSources: Literature","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:30:20.924086+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.43","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 37493040; Phenotypes: peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PEX14","entity_type":"gene"},{"created":"2023-08-03T12:30:10.549432+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.399","user_name":"Elena Savva","item_type":"entity","text":"gene: SENP7 was added\ngene: SENP7 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: SENP7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SENP7 were set to PMID: 37460201\nPhenotypes for gene: SENP7 were set to Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related\nReview for gene: SENP7 was set to AMBER\nAdded comment: PMID: 37460201\r\n- 1 family (4 affecteds, sibling pair and 1st cousin) with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia. Fetus could not be tested, so 3 confirmed genetically.\r\n- Homozygous for a PTC, decreased mRNA from one sample supports an NMD outcome.\r\n- Additional studies performed supporting downstream proteins expression being affected\r\n- Neutropenia observed in 2/3 patients \nSources: Literature","entity_name":"SENP7","entity_type":"gene"},{"created":"2023-08-03T12:29:30.164580+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALPK3 were set to 26846950; 27106955; 32480058","entity_name":"ALPK3","entity_type":"gene"},{"created":"2023-08-03T12:27:05.581597+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.221","user_name":"Krithika Murali","item_type":"entity","text":"gene: SLC4A10 was added\ngene: SLC4A10 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC4A10 were set to PMID: 37459438\nPhenotypes for gene: SLC4A10 were set to Neurodevelopmental disorderMONDO:0700092, SLC4A10-related\nReview for gene: SLC4A10 was set to GREEN\nAdded comment: PMID: 37459438 Fasham et al 2023 (Brain) report 10 affected individuals from 5 unrelated families with biallelic LoF variants in this gene with a novel neurodevelopmental disorder.\r\n\r\nPhenotypic features include hypotonia in infancy, delayed psychomotor development, typically severe ID, progressive postnatal microcephaly, ASD traits, corpus callosal abnormalities and 'slit-like' lateral ventricles. These phenotypic features were recapitulated in knockout mice with additional supportive functional studies.\r\n\r\nIsolated seizures was reported in 2/10 cases. \nSources: Literature","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:26:36.642769+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.313","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLPB as ready","entity_name":"CLPB","entity_type":"gene"},{"created":"2023-08-03T12:26:36.632711+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.313","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clpb has been classified as Green List (High Evidence).","entity_name":"CLPB","entity_type":"gene"},{"created":"2023-08-03T12:26:33.679816+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.313","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLPB were changed from syndromic premature ovarian insufficiency; neutropenia; cataracts; 3-methylglutaconic aciduria; neurological dysfunction to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 3-methylglutaconic aciduria, type VIIB, autosomal recessive, MIM# 616271; syndromic premature ovarian insufficiency; neutropenia; cataracts; 3-methylglutaconic aciduria; neurological dysfunction","entity_name":"CLPB","entity_type":"gene"},{"created":"2023-08-03T12:25:45.383914+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.35","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: STX5 as ready","entity_name":"STX5","entity_type":"gene"},{"created":"2023-08-03T12:25:45.375229+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.35","user_name":"Ain Roesley","item_type":"entity","text":"Gene: stx5 has been classified as Amber List (Moderate Evidence).","entity_name":"STX5","entity_type":"gene"},{"created":"2023-08-03T12:25:42.092898+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.312","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CLPB as Green List (high evidence)","entity_name":"CLPB","entity_type":"gene"},{"created":"2023-08-03T12:25:42.081492+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.312","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clpb has been classified as Green List (High Evidence).","entity_name":"CLPB","entity_type":"gene"},{"created":"2023-08-03T12:25:21.293317+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.35","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: STX5 as Amber List (moderate evidence)","entity_name":"STX5","entity_type":"gene"},{"created":"2023-08-03T12:25:21.276715+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.35","user_name":"Ain Roesley","item_type":"entity","text":"Gene: stx5 has been classified as Amber List (Moderate Evidence).","entity_name":"STX5","entity_type":"gene"},{"created":"2023-08-03T12:24:32.225438+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.130","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: STX5 as ready","entity_name":"STX5","entity_type":"gene"},{"created":"2023-08-03T12:24:32.212058+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.130","user_name":"Ain Roesley","item_type":"entity","text":"Gene: stx5 has been classified as Amber List (Moderate Evidence).","entity_name":"STX5","entity_type":"gene"},{"created":"2023-08-03T12:24:27.624121+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1059","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: STX5 as ready","entity_name":"STX5","entity_type":"gene"},{"created":"2023-08-03T12:24:27.614700+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1059","user_name":"Ain Roesley","item_type":"entity","text":"Gene: stx5 has been classified as Amber List (Moderate Evidence).","entity_name":"STX5","entity_type":"gene"},{"created":"2023-08-03T12:24:12.987546+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.130","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: STX5 as Amber List (moderate evidence)","entity_name":"STX5","entity_type":"gene"},{"created":"2023-08-03T12:24:12.967451+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.130","user_name":"Ain Roesley","item_type":"entity","text":"Gene: stx5 has been classified as Amber List (Moderate Evidence).","entity_name":"STX5","entity_type":"gene"},{"created":"2023-08-03T12:24:02.128669+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1059","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: STX5 were set to ","entity_name":"STX5","entity_type":"gene"},{"created":"2023-08-03T12:23:48.926139+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1058","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: STX5 as Amber List (moderate evidence)","entity_name":"STX5","entity_type":"gene"},{"created":"2023-08-03T12:23:48.914520+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1058","user_name":"Ain Roesley","item_type":"entity","text":"Gene: stx5 has been classified as Amber List (Moderate Evidence).","entity_name":"STX5","entity_type":"gene"},{"created":"2023-08-03T12:22:47.942783+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1057","user_name":"Krithika Murali","item_type":"entity","text":"gene: SLC4A10 was added\ngene: SLC4A10 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC4A10 were set to PMID: 37459438\nPhenotypes for gene: SLC4A10 were set to Neurodevelopmental disorderMONDO:0700092, SLC4A10-related\nReview for gene: SLC4A10 was set to GREEN\nAdded comment: PMID: 37459438 Fasham et al 2023 (Brain) report 10 affected individuals from 5 unrelated families with biallelic LoF variants in this gene with a novel neurodevelopmental disorder. \r\n\r\nPhenotypic features include hypotonia in infancy, delayed psychomotor development, typically severe ID, progressive postnatal microcephaly, ASD traits, corpus callosal abnormalities and 'slit-like' lateral ventricles.   These phenotypic features were recapitulated in knockout mice with additional supportive functional studies.  \r\n\r\nIsolated seizures was reported in 2/10 cases. \nSources: Literature","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:22:38.428944+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.231","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SHQ1 were set to 34542157; 29178645","entity_name":"SHQ1","entity_type":"gene"},{"created":"2023-08-03T12:22:31.506093+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.34","user_name":"Ain Roesley","item_type":"entity","text":"gene: STX5 was added\ngene: STX5 was added to Congenital Disorders of Glycosylation. Sources: Literature\nMode of inheritance for gene: STX5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STX5 were set to 34711829\nPhenotypes for gene: STX5 were set to congenital disorder of glycosylation MONDO#0015286, STX5-related\nReview for gene: STX5 was set to AMBER\ngene: STX5 was marked as current diagnostic\nAdded comment: 1x family with 3x deceased shortly after death + 3x spontaneous abortions + 2x abortions due to abnormal fatal ultrasound (US). \r\nHom for NM_003164.4:c.163 A > G p.(Met55Val), which results in complete loss of short isoform (which uses Met55 as the start)\r\n\r\nphenotype: short long bones on US, dysmorphism, skeletal dysplasia, profound hypotonia, hepatomegaly elevated cholesterol.\r\nPost-natally they died of progressive liver failure with cholestasis and hyperinsulinemic hypoglycemias\r\n\r\nPrimary human dermal fibroblasts isolated from these patients show defective glycosylation, altered Golgi morphology as measured by electron microscopy, mislocalization of glycosyltransferases, and compromised ER-Golgi trafficking \nSources: Literature","entity_name":"STX5","entity_type":"gene"},{"created":"2023-08-03T12:22:18.394341+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SHQ1 as Green List (high evidence)","entity_name":"SHQ1","entity_type":"gene"},{"created":"2023-08-03T12:22:18.383650+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shq1 has been classified as Green List (High Evidence).","entity_name":"SHQ1","entity_type":"gene"},{"created":"2023-08-03T12:21:58.595144+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SHQ1: Added comment: Two more individuals with dystonia reported.; Changed rating: GREEN; Changed publications: 34542157, 29178645, 36847845, 37475611","entity_name":"SHQ1","entity_type":"gene"},{"created":"2023-08-03T12:21:29.442410+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1056","user_name":"Sarah Pantaleo","item_type":"entity","text":"reviewed gene: KDM4B: Rating: ; Mode of pathogenicity: None; Publications: PMID: 37526414; Phenotypes: Intellectual developmental disorder, autosomal dominant 65, MIM#619320; Mode of inheritance: None","entity_name":"KDM4B","entity_type":"gene"},{"created":"2023-08-03T12:21:00.406867+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.129","user_name":"Ain Roesley","item_type":"entity","text":"gene: STX5 was added\ngene: STX5 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: STX5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STX5 were set to 34711829\nPhenotypes for gene: STX5 were set to congenital disorder of glycosylation MONDO#0015286, STX5-related\nReview for gene: STX5 was set to AMBER\ngene: STX5 was marked as current diagnostic\nAdded comment: 1x family with 3x deceased shortly after death + 3x spontaneous abortions + 2x abortions due to abnormal fatal ultrasound (US). \r\nHom for NM_003164.4:c.163 A > G p.(Met55Val), which results in complete loss of short isoform (which uses Met55 as the start)\r\n\r\nphenotype: short long bones on US, dysmorphism, skeletal dysplasia, profound hypotonia, hepatomegaly elevated cholesterol.\r\nPost-natally they died of progressive liver failure with cholestasis and hyperinsulinemic hypoglycemias\r\n\r\nPrimary human dermal fibroblasts isolated from these patients show defective glycosylation, altered Golgi morphology as measured by electron microscopy, mislocalization of glycosyltransferases, and compromised ER-Golgi trafficking \nSources: Literature","entity_name":"STX5","entity_type":"gene"},{"created":"2023-08-03T12:20:41.661038+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1056","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: STX5: Changed publications: 34711829","entity_name":"STX5","entity_type":"gene"},{"created":"2023-08-03T12:20:31.690706+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1056","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SHQ1 were set to 34542157; 29178645; 36847845","entity_name":"SHQ1","entity_type":"gene"},{"created":"2023-08-03T12:20:07.850791+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5310","user_name":"Sarah Pantaleo","item_type":"entity","text":"reviewed gene: KDM4B: Rating: ; Mode of pathogenicity: None; Publications: PMID: 37526414; Phenotypes: Intellectual developmental disorder, autosomal dominant 65, MIM#619320; Mode of inheritance: None","entity_name":"KDM4B","entity_type":"gene"},{"created":"2023-08-03T12:20:02.470856+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1055","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SHQ1 as Green List (high evidence)","entity_name":"SHQ1","entity_type":"gene"},{"created":"2023-08-03T12:20:02.461130+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1055","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shq1 has been classified as Green List (High Evidence).","entity_name":"SHQ1","entity_type":"gene"},{"created":"2023-08-03T12:19:38.953770+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1054","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SHQ1: Added comment: Additional individual with isolated, early-onset dystonia reported.\r\n\r\nIt is likely these clinical presentations are part of a spectrum.; Changed rating: GREEN; Changed publications: 34542157, 29178645, 36847845, 37475611","entity_name":"SHQ1","entity_type":"gene"},{"created":"2023-08-03T12:19:16.813797+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1054","user_name":"Ain Roesley","item_type":"entity","text":"gene: STX5 was added\ngene: STX5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: STX5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STX5 were set to congenital disorder of glycosylation MONDO#0015286, STX5-related\nReview for gene: STX5 was set to AMBER\ngene: STX5 was marked as current diagnostic\nAdded comment: 1x family with 3x deceased shortly after death + 3x spontaneous abortions + 2x abortions due to abnormal fatal ultrasound (US). \r\nHom for NM_003164.4:c.163 A > G p.(Met55Val), which results in complete loss of short isoform (which uses Met55 as the start)\r\n\r\nphenotype: short long bones on US, dysmorphism, skeletal dysplasia, profound hypotonia, hepatomegaly elevated cholesterol.\r\nPost-natally they died of progressive liver failure with cholestasis and hyperinsulinemic hypoglycemias\r\n\r\nPrimary human dermal fibroblasts isolated from these patients show defective glycosylation, altered Golgi morphology as measured by electron microscopy, mislocalization of glycosyltransferases, and compromised ER-Golgi trafficking \nSources: Literature","entity_name":"STX5","entity_type":"gene"},{"created":"2023-08-03T12:18:44.236486+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5310","user_name":"Dean Phelan","item_type":"entity","text":"gene: EZH1 was added\ngene: EZH1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: EZH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EZH1","entity_type":"gene"},{"created":"2023-08-03T12:07:25.983099+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.178","user_name":"Clare van Eyk","item_type":"entity","text":"changed review comment from: An additional three patients with heterozygous microdeletions and phenotypic overlap with previously described patients, but none with a CP diagnosis (PMID:36778426). Overall 4/10 patients with an AGAP1 variant have CP, however not all of these were classified as pathogenic and 2/3 of the new microdeletions are inherited suggesting incomplete penetrance. Authors show that mutant Drosophila have increased lethality from exposure to environmental insult.; to: An additional three patients with heterozygous microdeletions and phenotypic overlap with previously described patients, but none with a CP diagnosis (PMID:36778426, PMID: 37470098). Overall 4/10 patients with an AGAP1 variant have CP, however not all of these were classified as pathogenic and 2/3 of the new microdeletions are inherited suggesting incomplete penetrance. Authors show that mutant Drosophila have increased lethality from exposure to environmental insult.","entity_name":"AGAP1","entity_type":"gene"},{"created":"2023-08-03T12:05:29.171843+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.178","user_name":"Clare van Eyk","item_type":"entity","text":"reviewed gene: AGAP1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36778426; Phenotypes: cerebral palsy, intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AGAP1","entity_type":"gene"},{"created":"2023-08-03T12:00:08.874027+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.175","user_name":"Sarah Pantaleo","item_type":"entity","text":"reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34263907, 35783621; Phenotypes: Cardiomyopathy, familial hypertrophic 27 MIM#618052; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"ALPK3","entity_type":"gene"},{"created":"2023-08-03T11:47:28.996397+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2180","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNQ1 were changed from Long QT syndrome 1, MIM# 192500 to Jervell and Lange-Nielsen syndrome MIM#220400; Long QT syndrome 1, MIM# 192500","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2023-08-03T11:47:07.304983+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2179","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCNQ1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2023-08-03T11:46:46.722376+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2178","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deafness tag was added to gene: KCNQ1.","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2023-08-03T11:26:00.088035+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2178","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DMD as Amber List (moderate evidence)","entity_name":"DMD","entity_type":"gene"},{"created":"2023-08-03T11:26:00.075655+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2178","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dmd has been classified as Amber List (Moderate Evidence).","entity_name":"DMD","entity_type":"gene"},{"created":"2023-08-03T11:25:49.224080+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2177","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: DMD.","entity_name":"DMD","entity_type":"gene"},{"created":"2023-08-03T11:25:01.787718+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2177","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DMD: Added comment: Reviewed with RCH Neurology team: treatments currently not approved by the TGA. Downgrade to Amber, can be upgraded when this changes.; Changed rating: AMBER","entity_name":"DMD","entity_type":"gene"},{"created":"2023-08-03T10:48:34.547934+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.125","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: KDM6B as Green List (high evidence)","entity_name":"KDM6B","entity_type":"gene"},{"created":"2023-08-03T10:48:34.536003+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.125","user_name":"Elena Savva","item_type":"entity","text":"Gene: kdm6b has been classified as Green List (High Evidence).","entity_name":"KDM6B","entity_type":"gene"},{"created":"2023-08-03T10:45:06.348626+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.124","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: KDM6B as Green List (high evidence)","entity_name":"KDM6B","entity_type":"gene"},{"created":"2023-08-03T10:45:06.322367+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.124","user_name":"Elena Savva","item_type":"entity","text":"Gene: kdm6b has been classified as Green List (High Evidence).","entity_name":"KDM6B","entity_type":"gene"},{"created":"2023-08-03T10:44:58.118729+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.123","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: KDM6B as ready","entity_name":"KDM6B","entity_type":"gene"},{"created":"2023-08-03T10:44:58.104036+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.123","user_name":"Elena Savva","item_type":"entity","text":"Gene: kdm6b has been classified as Red List (Low Evidence).","entity_name":"KDM6B","entity_type":"gene"},{"created":"2023-08-03T10:42:31.980875+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.123","user_name":"Elena Savva","item_type":"entity","text":"gene: KDM6B was added\ngene: KDM6B was added to Macrocephaly_Megalencephaly. Sources: Literature\nMode of inheritance for gene: KDM6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KDM6B were set to PMID: 37196654\nPhenotypes for gene: KDM6B were set to Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities MIM#618505\nReview for gene: KDM6B was set to GREEN\nAdded comment: Rots (2023): 17/65 probands were macrocephalic \nSources: Literature","entity_name":"KDM6B","entity_type":"gene"},{"created":"2023-08-03T08:57:35.370407+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2177","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301579; Phenotypes: Jervell and Lange-Nielsen syndrome MIM#220400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2023-08-02T15:06:50.244816+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MTTP as ready","entity_name":"MTTP","entity_type":"gene"},{"created":"2023-08-02T15:06:50.229331+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mttp has been classified as Green List (High Evidence).","entity_name":"MTTP","entity_type":"gene"},{"created":"2023-08-02T15:06:47.577734+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MTTP were changed from Young onset; Abetalipoproteinaemia; hypocholesterloaemia leading to malabsorption of fat-soluble vitamins (vitamin E), acanthocytes, retinitis pigmentosa, progressive sensory axonal neuropathy to Abetalipoproteinemia (MIM#200100); Young onset; Abetalipoproteinaemia; hypocholesterloaemia leading to malabsorption of fat-soluble vitamins (vitamin E), acanthocytes, retinitis pigmentosa, progressive sensory axonal neuropathy","entity_name":"MTTP","entity_type":"gene"},{"created":"2023-08-02T15:06:29.402846+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.214","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MTTP were set to ","entity_name":"MTTP","entity_type":"gene"},{"created":"2023-08-02T15:06:08.695407+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: None; Publications: 33994405; Phenotypes: Abetalipoproteinemia (MIM#200100); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MTTP","entity_type":"gene"},{"created":"2023-08-02T14:58:57.248343+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C12orf65 as ready","entity_name":"C12orf65","entity_type":"gene"},{"created":"2023-08-02T14:58:57.238696+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c12orf65 has been classified as Green List (High Evidence).","entity_name":"C12orf65","entity_type":"gene"},{"created":"2023-08-02T14:58:53.942174+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: C12orf65 were set to ","entity_name":"C12orf65","entity_type":"gene"},{"created":"2023-08-02T14:58:35.993997+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: C12orf65.","entity_name":"C12orf65","entity_type":"gene"},{"created":"2023-08-02T14:58:04.979515+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATM as ready","entity_name":"ATM","entity_type":"gene"},{"created":"2023-08-02T14:58:04.969483+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atm has been classified as Amber List (Moderate Evidence).","entity_name":"ATM","entity_type":"gene"},{"created":"2023-08-02T14:58:01.700503+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATM were changed from Childhood-onset progressive ataxia, conjunctival telangiectasia, sensory axonal neuropathy, chorea and dystonia, immunodeficiency and increased risk of malignancy, elevated α-fetoprotein; Ataxia-telangiectasia syndrome to Ataxia-telangiectasia, MIM#208900; Childhood-onset progressive ataxia, conjunctival telangiectasia, sensory axonal neuropathy, chorea and dystonia, immunodeficiency and increased risk of malignancy, elevated α-fetoprotein; Ataxia-telangiectasia syndrome","entity_name":"ATM","entity_type":"gene"},{"created":"2023-08-02T14:57:42.124681+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATM were set to ","entity_name":"ATM","entity_type":"gene"},{"created":"2023-08-02T14:57:21.718620+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATM as Amber List (moderate evidence)","entity_name":"ATM","entity_type":"gene"},{"created":"2023-08-02T14:57:21.693904+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atm has been classified as Amber List (Moderate Evidence).","entity_name":"ATM","entity_type":"gene"},{"created":"2023-08-02T14:57:02.834547+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: None; Publications: 32259893; Phenotypes: Ataxia-telangiectasia, MIM#208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATM","entity_type":"gene"},{"created":"2023-08-02T14:53:45.920791+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP1S1 as ready","entity_name":"AP1S1","entity_type":"gene"},{"created":"2023-08-02T14:53:45.911401+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap1s1 has been classified as Green List (High Evidence).","entity_name":"AP1S1","entity_type":"gene"},{"created":"2023-08-02T14:53:42.556171+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AP1S1 were changed from Congenital-onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma to MEDNIK Syndrome (MONDO:0012251, MIM#609313); Congenital-onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma","entity_name":"AP1S1","entity_type":"gene"},{"created":"2023-08-02T14:53:20.244581+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP1S1 were set to ","entity_name":"AP1S1","entity_type":"gene"},{"created":"2023-08-02T14:52:54.423715+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AP1S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30244301; Phenotypes: MEDNIK syndrome (MIM#609313); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP1S1","entity_type":"gene"},{"created":"2023-08-02T14:49:55.986097+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCA1 as ready","entity_name":"ABCA1","entity_type":"gene"},{"created":"2023-08-02T14:49:55.973492+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abca1 has been classified as Green List (High Evidence).","entity_name":"ABCA1","entity_type":"gene"},{"created":"2023-08-02T14:49:52.720942+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABCA1 were changed from HMSN; Tangier disease to Tangier Disease (MONDO:0008783; MIM#205400)","entity_name":"ABCA1","entity_type":"gene"},{"created":"2023-08-02T14:49:19.964947+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ABCA1 were set to ","entity_name":"ABCA1","entity_type":"gene"},{"created":"2023-08-02T14:48:54.409768+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Neuropathy is a key feature of this metabolic disorder.; to: Neuropathy is a feature of this metabolic disorder. 54 individuals with neuropathy summarised in PMID 29582519.","entity_name":"ABCA1","entity_type":"gene"},{"created":"2023-08-02T14:48:34.096110+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ABCA1: Changed publications: 29582519","entity_name":"ABCA1","entity_type":"gene"},{"created":"2023-08-02T14:45:55.889427+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tangier Disease (MONDO:0008783, MIM#205400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABCA1","entity_type":"gene"},{"created":"2023-08-02T14:44:57.469175+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.178","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TSC1 as ready","entity_name":"TSC1","entity_type":"gene"},{"created":"2023-08-02T14:44:57.457673+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.178","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tsc1 has been classified as Amber List (Moderate Evidence).","entity_name":"TSC1","entity_type":"gene"},{"created":"2023-08-02T14:44:55.146868+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.178","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TSC1 were changed from Focal cortical dysplasia, type II, somatic MIM#607341; Lymphangioleiomyomatosis MIM#606690; Tuberous sclerosis-1 MIM#191100 to Tuberous sclerosis-1 MIM#191100","entity_name":"TSC1","entity_type":"gene"},{"created":"2023-08-02T14:44:18.678887+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.177","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TSC1 as Amber List (moderate evidence)","entity_name":"TSC1","entity_type":"gene"},{"created":"2023-08-02T14:44:18.666255+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.177","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tsc1 has been classified as Amber List (Moderate Evidence).","entity_name":"TSC1","entity_type":"gene"},{"created":"2023-08-02T14:43:23.287831+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.176","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRAPPC9 as ready","entity_name":"TRAPPC9","entity_type":"gene"},{"created":"2023-08-02T14:43:23.276032+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.176","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trappc9 has been classified as Green List (High Evidence).","entity_name":"TRAPPC9","entity_type":"gene"},{"created":"2023-08-02T14:43:19.155688+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.176","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRAPPC9 as Green List (high evidence)","entity_name":"TRAPPC9","entity_type":"gene"},{"created":"2023-08-02T14:43:19.141820+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.176","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trappc9 has been classified as Green List (High Evidence).","entity_name":"TRAPPC9","entity_type":"gene"},{"created":"2023-08-02T14:39:29.777428+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.175","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMX2 as ready","entity_name":"TMX2","entity_type":"gene"},{"created":"2023-08-02T14:39:29.765070+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.175","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmx2 has been classified as Green List (High Evidence).","entity_name":"TMX2","entity_type":"gene"},{"created":"2023-08-02T14:39:26.026732+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.175","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMX2 as Green List (high evidence)","entity_name":"TMX2","entity_type":"gene"},{"created":"2023-08-02T14:39:25.996861+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.175","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmx2 has been classified as Green List (High Evidence).","entity_name":"TMX2","entity_type":"gene"}]}