{"count":220293,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1427","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1425","results":[{"created":"2021-02-02T09:02:42.190389+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigf has been classified as Red List (Low Evidence).","entity_name":"PIGF","entity_type":"gene"},{"created":"2021-02-02T09:01:52.396378+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6189","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGF as ready","entity_name":"PIGF","entity_type":"gene"},{"created":"2021-02-02T09:01:52.386113+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6189","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigf has been classified as Red List (Low Evidence).","entity_name":"PIGF","entity_type":"gene"},{"created":"2021-02-02T09:01:42.482224+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6189","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIGF as Red List (low evidence)","entity_name":"PIGF","entity_type":"gene"},{"created":"2021-02-02T09:01:42.469044+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6189","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigf has been classified as Red List (Low Evidence).","entity_name":"PIGF","entity_type":"gene"},{"created":"2021-02-02T08:58:58.733237+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BRWD1 as ready","entity_name":"BRWD1","entity_type":"gene"},{"created":"2021-02-02T08:58:58.719133+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: brwd1 has been classified as Green List (High Evidence).","entity_name":"BRWD1","entity_type":"gene"},{"created":"2021-02-02T08:58:54.933751+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BRWD1 as Green List (high evidence)","entity_name":"BRWD1","entity_type":"gene"},{"created":"2021-02-02T08:58:54.926188+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: brwd1 has been classified as Green List (High Evidence).","entity_name":"BRWD1","entity_type":"gene"},{"created":"2021-02-02T08:58:25.353483+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BRWD1 was added\ngene: BRWD1 was added to Ciliary Dyskinesia. Sources: Literature\nMode of inheritance for gene: BRWD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BRWD1 were set to 33389130\nPhenotypes for gene: BRWD1 were set to Primary ciliary dyskinesia, asthenoteratozoospermia\nReview for gene: BRWD1 was set to GREEN\nAdded comment: Biallelic missense variants reported in 3 unrelated individuals. Apart from asthenoteratozoospermia, all 3 had PCD or \"PCD-like\" symptoms of reccurring airway infections, bronchiectasis, and rhinosinusitis. One individual had situs inversus. Studies on cells from one indivdidual showed abnormal respiratory cilia structure. BRWD1 staining was absent from respiratory cilia in this individual (present in controls). \nSources: Literature","entity_name":"BRWD1","entity_type":"gene"},{"created":"2021-02-02T08:56:19.327212+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6188","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BRWD1 as ready","entity_name":"BRWD1","entity_type":"gene"},{"created":"2021-02-02T08:56:19.319569+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6188","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: brwd1 has been classified as Green List (High Evidence).","entity_name":"BRWD1","entity_type":"gene"},{"created":"2021-02-02T08:56:06.858305+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6188","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BRWD1 as Green List (high evidence)","entity_name":"BRWD1","entity_type":"gene"},{"created":"2021-02-02T08:56:06.847908+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6188","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: brwd1 has been classified as Green List (High Evidence).","entity_name":"BRWD1","entity_type":"gene"},{"created":"2021-02-01T20:58:11.281059+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6187","user_name":"Paul De Fazio","item_type":"entity","text":"changed review comment from: The same homozygous missense variant identified in 2 individuals from different families from the same region of India. Individuals had a phenotype similar to DOORS syndrome without deafness. Impaired glycosylphosphatidylinositol (GPI) biosynthesis was demonstrated.\r\n\r\nRated Red as the two families are likely to be related (founder mutation?).\r\nSources: Literature; to: The same homozygous missense variant identified in 2 individuals from different families from the same region of India. Individuals had a phenotype similar to DOORS syndrome without deafness - only one of the two had seizures (GTCS), the other was 14mo and noted to have tonic posturing. \r\n\r\nImpaired glycosylphosphatidylinositol (GPI) biosynthesis was demonstrated by flow cytometry and a rescue assay. Alkaline phosphatase in both individuals was normal.\r\n\r\nRated Red as the two families are likely to be related (founder mutation?).\r\nSources: Literature","entity_name":"PIGF","entity_type":"gene"},{"created":"2021-02-01T20:52:59.550385+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3427","user_name":"Paul De Fazio","item_type":"entity","text":"gene: PIGF was added\ngene: PIGF was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PIGF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGF were set to 33386993\nPhenotypes for gene: PIGF were set to Glycosylphosphatidylinositol deficiency, onychodystrophy, osteodystrophy, intellectual disability, and seizures\nReview for gene: PIGF was set to RED\ngene: PIGF was marked as current diagnostic\nAdded comment: The same homozygous missense variant identified in 2 individuals from different families from the same region of India. Individuals had a phenotype similar to DOORS syndrome without deafness. Impaired glycosylphosphatidylinositol (GPI) biosynthesis was demonstrated.\r\n\r\nRated Red as the two families are likely to be related (founder mutation?). \nSources: Literature","entity_name":"PIGF","entity_type":"gene"},{"created":"2021-02-01T20:51:20.722678+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.6","user_name":"Paul De Fazio","item_type":"entity","text":"gene: PIGF was added\ngene: PIGF was added to Congenital Disorders of Glycosylation. Sources: Literature\nMode of inheritance for gene: PIGF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGF were set to 33386993\nPhenotypes for gene: PIGF were set to Glycosylphosphatidylinositol deficiency, onychodystrophy, osteodystrophy, intellectual disability, and seizures\nReview for gene: PIGF was set to RED\ngene: PIGF was marked as current diagnostic\nAdded comment: The same homozygous missense variant identified in 2 individuals from different families from the same region of India. Individuals had a phenotype similar to DOORS syndrome without deafness. Impaired glycosylphosphatidylinositol (GPI) biosynthesis was demonstrated.\r\n\r\nRated Red as the two families are likely to be related (founder mutation?). \nSources: Literature","entity_name":"PIGF","entity_type":"gene"},{"created":"2021-02-01T20:48:44.281805+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6187","user_name":"Paul De Fazio","item_type":"entity","text":"edited their review of gene: PIGF: Changed phenotypes: Glycosylphosphatidylinositol deficiency, onychodystrophy, osteodystrophy, intellectual disability, and seizures","entity_name":"PIGF","entity_type":"gene"},{"created":"2021-02-01T20:48:34.968232+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6187","user_name":"Paul De Fazio","item_type":"entity","text":"changed review comment from: The same missense variant identified in 2 individuals from different families from the same region of India. Individuals had a phenotype similar to DOORS syndrome without deafness. Impaired glycosylphosphatidylinositol (GPI) biosynthesis was demonstrated.\r\n\r\nRated Red as the two families are likely to be related (founder mutation?).\r\nSources: Literature; to: The same homozygous missense variant identified in 2 individuals from different families from the same region of India. Individuals had a phenotype similar to DOORS syndrome without deafness. Impaired glycosylphosphatidylinositol (GPI) biosynthesis was demonstrated.\r\n\r\nRated Red as the two families are likely to be related (founder mutation?).\r\nSources: Literature","entity_name":"PIGF","entity_type":"gene"},{"created":"2021-02-01T20:47:15.568236+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6187","user_name":"Paul De Fazio","item_type":"entity","text":"changed review comment from: Identified in 2 individuals with a phenotype similar to DOORS (syndrome \nSources: Literature; to: The same missense variant identified in 2 individuals from different families from the same region of India. Individuals had a phenotype similar to DOORS syndrome without deafness. Impaired glycosylphosphatidylinositol (GPI) biosynthesis was demonstrated.\r\n\r\nRated Red as the two families are likely to be related (founder mutation?).\r\nSources: Literature","entity_name":"PIGF","entity_type":"gene"},{"created":"2021-02-01T20:44:29.339405+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6187","user_name":"Paul De Fazio","item_type":"entity","text":"gene: PIGF was added\ngene: PIGF was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PIGF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGF were set to 33386993\nPhenotypes for gene: PIGF were set to Glycosylphosphatidylinositol\\  deficiency, onychodystrophy, osteodystrophy, intellectual disability, and seizures\nReview for gene: PIGF was set to RED\ngene: PIGF was marked as current diagnostic\nAdded comment: Identified in 2 individuals with a phenotype similar to DOORS (syndrome \nSources: Literature","entity_name":"PIGF","entity_type":"gene"},{"created":"2021-02-01T20:41:44.640979+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6187","user_name":"Paul De Fazio","item_type":"entity","text":"gene: BRWD1 was added\ngene: BRWD1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BRWD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BRWD1 were set to 33389130\nPhenotypes for gene: BRWD1 were set to Asthenoteratozoospermia, likely primary ciliary dyskinesia\nReview for gene: BRWD1 was set to GREEN\ngene: BRWD1 was marked as current diagnostic\nAdded comment: Biallelic missense variants reported in 3 unrelated individuals. Apart from asthenoteratozoospermia, all 3 had PCD or \"PCD-likely\" symptoms of re-occurring airway infections, bronchiectasis, and rhinosinusitis. One individual had situs inversus. Studies on cells from one indivdidual showed abnormal respiratory cilia structure. BRWD1 staining was absent from respiratory cilia in this individual (present in controls).\r\n\r\nRated Green as there are three unrelated individuals reported. \nSources: Literature","entity_name":"BRWD1","entity_type":"gene"},{"created":"2021-02-01T19:57:48.650214+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3427","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HIRA as ready","entity_name":"HIRA","entity_type":"gene"},{"created":"2021-02-01T19:57:48.622721+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3427","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hira has been classified as Green List (High Evidence).","entity_name":"HIRA","entity_type":"gene"},{"created":"2021-02-01T19:57:43.212690+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3427","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HIRA as Green List (high evidence)","entity_name":"HIRA","entity_type":"gene"},{"created":"2021-02-01T19:57:43.202527+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3427","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hira has been classified as Green List (High Evidence).","entity_name":"HIRA","entity_type":"gene"},{"created":"2021-02-01T19:57:03.137490+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6187","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HIRA as ready","entity_name":"HIRA","entity_type":"gene"},{"created":"2021-02-01T19:57:03.128837+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6187","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hira has been classified as Green List (High Evidence).","entity_name":"HIRA","entity_type":"gene"},{"created":"2021-02-01T19:56:49.280563+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6187","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HIRA as Green List (high evidence)","entity_name":"HIRA","entity_type":"gene"},{"created":"2021-02-01T19:56:49.272932+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6187","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hira has been classified as Green List (High Evidence).","entity_name":"HIRA","entity_type":"gene"},{"created":"2021-02-01T19:55:29.723830+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6186","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EYA3 as ready","entity_name":"EYA3","entity_type":"gene"},{"created":"2021-02-01T19:55:29.713287+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6186","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eya3 has been classified as Red List (Low Evidence).","entity_name":"EYA3","entity_type":"gene"},{"created":"2021-02-01T19:55:11.628811+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6186","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EYA3 as Red List (low evidence)","entity_name":"EYA3","entity_type":"gene"},{"created":"2021-02-01T19:55:11.618619+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6186","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eya3 has been classified as Red List (Low Evidence).","entity_name":"EYA3","entity_type":"gene"},{"created":"2021-02-01T19:53:18.541769+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.49","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLRN2 as ready","entity_name":"CLRN2","entity_type":"gene"},{"created":"2021-02-01T19:53:18.530667+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.49","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clrn2 has been classified as Amber List (Moderate Evidence).","entity_name":"CLRN2","entity_type":"gene"},{"created":"2021-02-01T19:53:14.170125+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.49","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CLRN2 as Amber List (moderate evidence)","entity_name":"CLRN2","entity_type":"gene"},{"created":"2021-02-01T19:53:14.158510+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.49","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clrn2 has been classified as Amber List (Moderate Evidence).","entity_name":"CLRN2","entity_type":"gene"},{"created":"2021-02-01T19:52:17.990644+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.48","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLRN2 was added\ngene: CLRN2 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: CLRN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLRN2 were set to 33496845\nPhenotypes for gene: CLRN2 were set to Non-syndromic hearing loss\nReview for gene: CLRN2 was set to AMBER\nAdded comment: Missense variant segregates with non-syndromic hearing loss in 3 members of a consanguineous family, two from one nuclear family and one from another. The variant was also shown to result in some transcripts being abnormally spliced, resulting in a premature stop codon. Functional studies in zebrafish and mice show the gene plays an essential role in normal organization and maintenance of the auditory hair bundles, and for hearing function. Rated Amber due to supporting functional studies in mice. \nSources: Literature","entity_name":"CLRN2","entity_type":"gene"},{"created":"2021-02-01T19:50:13.980905+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6185","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CLRN2 as Amber List (moderate evidence)","entity_name":"CLRN2","entity_type":"gene"},{"created":"2021-02-01T19:50:13.969726+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6185","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clrn2 has been classified as Amber List (Moderate Evidence).","entity_name":"CLRN2","entity_type":"gene"},{"created":"2021-02-01T19:28:01.640187+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3426","user_name":"Paul De Fazio","item_type":"entity","text":"gene: HIRA was added\ngene: HIRA was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: HIRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HIRA were set to 33417013; 28135719; 25363760\nPhenotypes for gene: HIRA were set to Neurodevelopmental disorder\nReview for gene: HIRA was set to GREEN\ngene: HIRA was marked as current diagnostic\nAdded comment: Two unrelated patients with different de novo loss of function variants identified in PMID 33417013:\r\n\r\nIndividual 1: intragenic deletion, phenotype included psychomotor retardation, ID, growth retardation, microcephaly, and facial features reminiscent of 22q deletion syndrome.\r\nIndividual 2: canonical splice variant, phenotype mostly confined to ASD\r\n\r\nAnother two de novo variants were identified in the literature by the authors of that paper, one stop-gain (DDD study, PMID 28135719) and one missense (large autism cohort, PMID 25363760).\r\n\r\nPMID 33417013 also showed that HIRA knockdown in mice results in neurodevelopmental abnormalities.\r\n\r\nRated Green due to 4 unrelated individuals (albeit 2 in large cohort studies) and a mouse model. NB: HIRA is within the common 22q deletion region. \nSources: Literature","entity_name":"HIRA","entity_type":"gene"},{"created":"2021-02-01T19:26:32.999109+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6184","user_name":"Paul De Fazio","item_type":"entity","text":"gene: HIRA was added\ngene: HIRA was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HIRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HIRA were set to 33417013; 28135719; 25363760\nPhenotypes for gene: HIRA were set to Neurodevelopmental disorder\nReview for gene: HIRA was set to GREEN\ngene: HIRA was marked as current diagnostic\nAdded comment: Two unrelated patients with different de novo loss of function variants identified in PMID 33417013:\r\n\r\nIndividual 1: intragenic deletion, phenotype included psychomotor retardation, ID, growth retardation, microcephaly, and facial features reminiscent of 22q deletion syndrome. \r\nIndividual 2: canonical splice variant, phenotype mostly confined to ASD\r\n\r\nAnother two de novo variants were identified in the literature by the authors of that paper, one stop-gain (DDD study, PMID 28135719) and one missense (large autism cohort, PMID 25363760).\r\n\r\nPMID 33417013 also showed that HIRA knockdown in mice results in neurodevelopmental abnormalities.\r\n\r\nRated Green due to 4 unrelated individuals (albeit 2 in large cohort studies) and a mouse model. NB: HIRA is within the common 22q deletion region. \nSources: Literature","entity_name":"HIRA","entity_type":"gene"},{"created":"2021-02-01T19:11:40.380159+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6184","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Ataxia is a presenting feature.; to: Bi-allelic variants are associated with leukodystrophy.","entity_name":"POLR3B","entity_type":"gene"},{"created":"2021-02-01T19:11:16.197783+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6184","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLR3B as ready","entity_name":"POLR3B","entity_type":"gene"},{"created":"2021-02-01T19:11:16.189477+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6184","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polr3b has been classified as Green List (High Evidence).","entity_name":"POLR3B","entity_type":"gene"},{"created":"2021-02-01T19:11:08.231462+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6184","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLR3B were changed from  to Ataxia, spasticity, and demyelinating neuropathy; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381","entity_name":"POLR3B","entity_type":"gene"},{"created":"2021-02-01T19:10:48.372162+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6183","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POLR3B were set to ","entity_name":"POLR3B","entity_type":"gene"},{"created":"2021-02-01T19:10:34.841901+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6182","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POLR3B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"POLR3B","entity_type":"gene"},{"created":"2021-02-01T19:09:36.896032+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLR3B as ready","entity_name":"POLR3B","entity_type":"gene"},{"created":"2021-02-01T19:09:36.891001+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Note bi-allelic variants in this gene cause a leukodystrophy.","entity_name":"POLR3B","entity_type":"gene"},{"created":"2021-02-01T19:09:36.854750+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polr3b has been classified as Green List (High Evidence).","entity_name":"POLR3B","entity_type":"gene"},{"created":"2021-02-01T19:09:21.898759+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLR3B were changed from Ataxia, spasticity, and demyelinating neuropathy; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381 to Ataxia, spasticity, and demyelinating neuropathy","entity_name":"POLR3B","entity_type":"gene"},{"created":"2021-02-01T19:09:04.644638+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POLR3B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"POLR3B","entity_type":"gene"},{"created":"2021-02-01T19:08:13.497800+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POLR3B as Green List (high evidence)","entity_name":"POLR3B","entity_type":"gene"},{"created":"2021-02-01T19:08:13.489917+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polr3b has been classified as Green List (High Evidence).","entity_name":"POLR3B","entity_type":"gene"},{"created":"2021-02-01T19:07:20.497578+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6181","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CFAP47: Changed rating: GREEN","entity_name":"CFAP47","entity_type":"gene"},{"created":"2021-02-01T19:07:08.339862+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6181","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CFAP47 as ready","entity_name":"CFAP47","entity_type":"gene"},{"created":"2021-02-01T19:07:08.336095+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6181","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: 3-4 unrelated individuals and animal model.","entity_name":"CFAP47","entity_type":"gene"},{"created":"2021-02-01T19:07:08.306823+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6181","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cfap47 has been classified as Green List (High Evidence).","entity_name":"CFAP47","entity_type":"gene"},{"created":"2021-02-01T19:06:46.923476+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6181","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CFAP47 as Green List (high evidence)","entity_name":"CFAP47","entity_type":"gene"},{"created":"2021-02-01T19:06:46.915065+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6181","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cfap47 has been classified as Green List (High Evidence).","entity_name":"CFAP47","entity_type":"gene"},{"created":"2021-02-01T19:05:57.110679+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C14orf39 as ready","entity_name":"C14orf39","entity_type":"gene"},{"created":"2021-02-01T19:05:57.101658+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c14orf39 has been classified as Amber List (Moderate Evidence).","entity_name":"C14orf39","entity_type":"gene"},{"created":"2021-02-01T19:05:52.354632+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C14orf39 as Amber List (moderate evidence)","entity_name":"C14orf39","entity_type":"gene"},{"created":"2021-02-01T19:05:52.345165+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c14orf39 has been classified as Amber List (Moderate Evidence).","entity_name":"C14orf39","entity_type":"gene"},{"created":"2021-02-01T19:05:05.229470+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6180","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C14orf39 as ready","entity_name":"C14orf39","entity_type":"gene"},{"created":"2021-02-01T19:05:05.218402+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6180","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c14orf39 has been classified as Green List (High Evidence).","entity_name":"C14orf39","entity_type":"gene"},{"created":"2021-02-01T19:04:54.722462+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6180","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C14orf39 as Green List (high evidence)","entity_name":"C14orf39","entity_type":"gene"},{"created":"2021-02-01T19:04:54.714407+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6180","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c14orf39 has been classified as Green List (High Evidence).","entity_name":"C14orf39","entity_type":"gene"},{"created":"2021-02-01T19:04:50.905041+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6179","user_name":"Paul De Fazio","item_type":"entity","text":"gene: EYA3 was added\ngene: EYA3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EYA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: EYA3 were set to 33475861\nPhenotypes for gene: EYA3 were set to Oculo-auriculo-vertebral spectrum (OAVS)\nReview for gene: EYA3 was set to RED\ngene: EYA3 was marked as current diagnostic\nAdded comment: 3 individuals with OAVS from two unrelated families with the same missense variant, p.(Asn358Ser). Variant has 20 heterozygotes in gnomAD. Unaffected carriers in both families were also identified - unknown if incomplete penetrance or nonsegregation. \r\n\r\nFunctional studies indicate the variant increases protein half life, and gene knockdown in zebrafish had an effect on craniofacial development.\r\n\r\nRated Red due to both families sharing the variant and uncertainty about incomplete penetrance versus nonsegregation. \nSources: Literature","entity_name":"EYA3","entity_type":"gene"},{"created":"2021-02-01T19:03:56.856337+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.272","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SATB1 as ready","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-02-01T19:03:56.848626+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.272","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: satb1 has been classified as Green List (High Evidence).","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-02-01T19:03:53.332249+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.272","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorders to Neurodevelopmental disorder; Intellectual disability; Seizures; Microcephaly; Regression; Movement disorder, ataxia","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-02-01T19:03:19.965330+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.271","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SATB1 as Green List (high evidence)","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-02-01T19:03:19.949483+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.271","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: satb1 has been classified as Green List (High Evidence).","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-02-01T19:03:01.944202+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1016","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorder; Intellectual disability; Epilepsy; Microcephaly; Regression to Neurodevelopmental disorder; Intellectual disability; Epilepsy; Microcephaly; Regression","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-02-01T19:02:58.075665+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1016","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SATB1 as ready","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-02-01T19:02:58.067468+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1016","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: satb1 has been classified as Green List (High Evidence).","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-02-01T19:02:40.971940+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1016","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorders to Neurodevelopmental disorder; Intellectual disability; Epilepsy; Microcephaly; Regression","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-02-01T19:02:18.331528+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1015","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SATB1 as Green List (high evidence)","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-02-01T19:02:18.314094+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1015","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: satb1 has been classified as Green List (High Evidence).","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-02-01T19:01:21.160096+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.234","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SATB1 as ready","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-02-01T19:01:21.147155+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.234","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: satb1 has been classified as Green List (High Evidence).","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-02-01T19:01:18.043770+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.234","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorders to Neurodevelopmental disorder; regression","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-02-01T19:00:45.179668+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.233","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SATB1 as Green List (high evidence)","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-02-01T19:00:45.171030+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.233","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: satb1 has been classified as Green List (High Evidence).","entity_name":"SATB1","entity_type":"gene"},{"created":"2021-02-01T18:59:55.000478+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.262","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NSUN2 were changed from Severe intellectual disability, microcephaly, postnatal growth retardation, and dysmorphic facial features to Mental retardation, autosomal recessive 5, MIM# 611091; Severe intellectual disability, microcephaly, postnatal growth retardation, and dysmorphic facial features","entity_name":"NSUN2","entity_type":"gene"},{"created":"2021-02-01T18:59:22.002837+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.261","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NSUN2 were set to ","entity_name":"NSUN2","entity_type":"gene"},{"created":"2021-02-01T18:58:48.590618+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.260","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NSUN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal recessive 5, MIM# 611091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NSUN2","entity_type":"gene"},{"created":"2021-02-01T18:56:11.080861+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NAA15 as ready","entity_name":"NAA15","entity_type":"gene"},{"created":"2021-02-01T18:56:11.073436+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: naa15 has been classified as Amber List (Moderate Evidence).","entity_name":"NAA15","entity_type":"gene"},{"created":"2021-02-01T18:56:08.743255+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NAA15 were changed from Intellectual disability; cardiomyopathy to Mental retardation, autosomal dominant 50, MIM#\t617787; cardiomyopathy","entity_name":"NAA15","entity_type":"gene"},{"created":"2021-02-01T18:55:45.632300+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NAA15 were changed from  to Intellectual disability; cardiomyopathy","entity_name":"NAA15","entity_type":"gene"},{"created":"2021-02-01T18:55:28.968352+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NAA15 were set to ","entity_name":"NAA15","entity_type":"gene"},{"created":"2021-02-01T18:55:22.148765+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NAA15 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NAA15","entity_type":"gene"},{"created":"2021-02-01T18:55:11.041118+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NAA15: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NAA15","entity_type":"gene"},{"created":"2021-02-01T18:53:18.713761+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6179","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ENO1 as ready","entity_name":"ENO1","entity_type":"gene"},{"created":"2021-02-01T18:53:18.706301+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6179","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eno1 has been classified as Red List (Low Evidence).","entity_name":"ENO1","entity_type":"gene"},{"created":"2021-02-01T18:53:08.871145+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6179","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ENO1 as Red List (low evidence)","entity_name":"ENO1","entity_type":"gene"}]}