{"count":220751,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2002","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2000","results":[{"created":"2020-01-06T07:37:31.690576+11:00","panel_name":"Renal macrocystic disease_KidGen_VCGS","panel_id":194,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VHL as Green List (high evidence)","entity_name":"VHL","entity_type":"gene"},{"created":"2020-01-06T07:37:31.684450+11:00","panel_name":"Renal macrocystic disease_KidGen_VCGS","panel_id":194,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vhl has been classified as Green List (High Evidence).","entity_name":"VHL","entity_type":"gene"},{"created":"2020-01-06T07:37:21.159677+11:00","panel_name":"Renal macrocystic disease_KidGen_VCGS","panel_id":194,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VHL was added\ngene: VHL was added to Renal macrocystic disease_KidGen_VCGS. Sources: Expert list\nMode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: VHL were set to von Hippel-Lindau syndrome, MIM#\t193300\nReview for gene: VHL was set to GREEN\nAdded comment: Multiple renal cysts are part of the phenotype. \nSources: Expert list","entity_name":"VHL","entity_type":"gene"},{"created":"2020-01-06T07:34:06.541612+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.674","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACTG2 as ready","entity_name":"ACTG2","entity_type":"gene"},{"created":"2020-01-06T07:34:06.534985+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.674","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: actg2 has been classified as Green List (High Evidence).","entity_name":"ACTG2","entity_type":"gene"},{"created":"2020-01-06T07:33:55.392907+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.674","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACTG2 were changed from  to Visceral myopathy, MIM#155310","entity_name":"ACTG2","entity_type":"gene"},{"created":"2020-01-06T07:33:39.318128+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.673","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACTG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTG2","entity_type":"gene"},{"created":"2020-01-06T07:33:20.942895+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.672","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACTG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Visceral myopathy, MIM#155310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTG2","entity_type":"gene"},{"created":"2020-01-06T07:32:46.631036+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS","panel_id":63,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACTG2 as ready","entity_name":"ACTG2","entity_type":"gene"},{"created":"2020-01-06T07:32:46.624925+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS","panel_id":63,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: actg2 has been classified as Green List (High Evidence).","entity_name":"ACTG2","entity_type":"gene"},{"created":"2020-01-06T07:32:35.166856+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS","panel_id":63,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACTG2 as Green List (high evidence)","entity_name":"ACTG2","entity_type":"gene"},{"created":"2020-01-06T07:32:35.157550+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS","panel_id":63,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: actg2 has been classified as Green List (High Evidence).","entity_name":"ACTG2","entity_type":"gene"},{"created":"2020-01-06T07:30:51.797428+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS","panel_id":63,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACTG2 was added\ngene: ACTG2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list\nMode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTG2 were set to Visceral myopathy, MIM#\t155310\nReview for gene: ACTG2 was set to GREEN\nAdded comment: Renal manifestations: megacystis, hydronephrosis. \nSources: Expert list","entity_name":"ACTG2","entity_type":"gene"},{"created":"2020-01-05T18:12:22.686961+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.672","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C19orf70 as ready","entity_name":"C19orf70","entity_type":"gene"},{"created":"2020-01-05T18:12:22.680772+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.672","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c19orf70 has been classified as Green List (High Evidence).","entity_name":"C19orf70","entity_type":"gene"},{"created":"2020-01-05T18:12:13.775276+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.672","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C19orf70 as Green List (high evidence)","entity_name":"C19orf70","entity_type":"gene"},{"created":"2020-01-05T18:12:13.768753+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.672","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c19orf70 has been classified as Green List (High Evidence).","entity_name":"C19orf70","entity_type":"gene"},{"created":"2020-01-05T18:11:54.146472+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.671","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C19orf70 was added\ngene: C19orf70 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: C19orf70 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C19orf70 were set to 29618761; 27623147; 27485409\nPhenotypes for gene: C19orf70 were set to Combined oxidative phosphorylation deficiency 37, MIM#\t618329\nReview for gene: C19orf70 was set to GREEN\nAdded comment: Three unrelated families reported. HGNC approved name MICOS13. \nSources: Expert list","entity_name":"C19orf70","entity_type":"gene"},{"created":"2020-01-05T18:11:17.931500+11:00","panel_name":"Mitochondrial_AustralianGenomics_VCGS","panel_id":203,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C19orf70 as ready","entity_name":"C19orf70","entity_type":"gene"},{"created":"2020-01-05T18:11:17.923809+11:00","panel_name":"Mitochondrial_AustralianGenomics_VCGS","panel_id":203,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c19orf70 has been classified as Green List (High Evidence).","entity_name":"C19orf70","entity_type":"gene"},{"created":"2020-01-05T18:10:26.136547+11:00","panel_name":"Mitochondrial_AustralianGenomics_VCGS","panel_id":203,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C19orf70 as Green List (high evidence)","entity_name":"C19orf70","entity_type":"gene"},{"created":"2020-01-05T18:10:26.124819+11:00","panel_name":"Mitochondrial_AustralianGenomics_VCGS","panel_id":203,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c19orf70 has been classified as Green List (High Evidence).","entity_name":"C19orf70","entity_type":"gene"},{"created":"2020-01-05T18:09:46.369062+11:00","panel_name":"Mitochondrial_AustralianGenomics_VCGS","panel_id":203,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C19orf70 was added\ngene: C19orf70 was added to Mitochondrial_AustralianGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: C19orf70 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C19orf70 were set to 29618761; 27623147; 27485409\nPhenotypes for gene: C19orf70 were set to Combined oxidative phosphorylation deficiency 37, MIM#\t618329\nReview for gene: C19orf70 was set to GREEN\nAdded comment: Three unrelated families reported. HGNC approved name MICOS13. \nSources: Expert list","entity_name":"C19orf70","entity_type":"gene"},{"created":"2020-01-05T18:01:47.020440+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.670","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MIPEP as ready","entity_name":"MIPEP","entity_type":"gene"},{"created":"2020-01-05T18:01:47.013512+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.670","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mipep has been classified as Green List (High Evidence).","entity_name":"MIPEP","entity_type":"gene"},{"created":"2020-01-05T18:01:35.656679+11:00","panel_name":"Mitochondrial_AustralianGenomics_VCGS","panel_id":203,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MIPEP as ready","entity_name":"MIPEP","entity_type":"gene"},{"created":"2020-01-05T18:01:35.649211+11:00","panel_name":"Mitochondrial_AustralianGenomics_VCGS","panel_id":203,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mipep has been classified as Green List (High Evidence).","entity_name":"MIPEP","entity_type":"gene"},{"created":"2020-01-05T18:01:35.431094+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.670","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MIPEP as Green List (high evidence)","entity_name":"MIPEP","entity_type":"gene"},{"created":"2020-01-05T18:01:35.425115+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.670","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mipep has been classified as Green List (High Evidence).","entity_name":"MIPEP","entity_type":"gene"},{"created":"2020-01-05T18:01:15.234081+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.669","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MIPEP was added\ngene: MIPEP was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: MIPEP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MIPEP were set to 27799064\nPhenotypes for gene: MIPEP were set to Combined oxidative phosphorylation deficiency 31, MIM#\t617228\nReview for gene: MIPEP was set to GREEN\nAdded comment: Four unrelated children reported. \nSources: Expert list","entity_name":"MIPEP","entity_type":"gene"},{"created":"2020-01-05T18:00:21.798065+11:00","panel_name":"Mitochondrial_AustralianGenomics_VCGS","panel_id":203,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MIPEP as Green List (high evidence)","entity_name":"MIPEP","entity_type":"gene"},{"created":"2020-01-05T18:00:21.789328+11:00","panel_name":"Mitochondrial_AustralianGenomics_VCGS","panel_id":203,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mipep has been classified as Green List (High Evidence).","entity_name":"MIPEP","entity_type":"gene"},{"created":"2020-01-05T17:59:43.183723+11:00","panel_name":"Mitochondrial_AustralianGenomics_VCGS","panel_id":203,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MIPEP was added\ngene: MIPEP was added to Mitochondrial_AustralianGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: MIPEP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MIPEP were set to 27799064\nPhenotypes for gene: MIPEP were set to Combined oxidative phosphorylation deficiency 31, MIM#\t617228\nReview for gene: MIPEP was set to GREEN\nAdded comment: Four unrelated children reported. \nSources: Expert list","entity_name":"MIPEP","entity_type":"gene"},{"created":"2020-01-05T17:55:41.380930+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.668","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MRPS14 was added\ngene: MRPS14 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: MRPS14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPS14 were set to 30358850\nPhenotypes for gene: MRPS14 were set to Combined oxidative phosphorylation deficiency 38, MIM#\t618378\nReview for gene: MRPS14 was set to RED\nAdded comment: Single individual reported, functional data. \nSources: Expert list","entity_name":"MRPS14","entity_type":"gene"},{"created":"2020-01-05T17:53:24.134283+11:00","panel_name":"Mitochondrial_AustralianGenomics_VCGS","panel_id":203,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MRPS14 as ready","entity_name":"MRPS14","entity_type":"gene"},{"created":"2020-01-05T17:53:24.128086+11:00","panel_name":"Mitochondrial_AustralianGenomics_VCGS","panel_id":203,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrps14 has been classified as Red List (Low Evidence).","entity_name":"MRPS14","entity_type":"gene"},{"created":"2020-01-05T17:53:13.007206+11:00","panel_name":"Mitochondrial_AustralianGenomics_VCGS","panel_id":203,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MRPS14 was added\ngene: MRPS14 was added to Mitochondrial_AustralianGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: MRPS14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPS14 were set to 30358850\nPhenotypes for gene: MRPS14 were set to Combined oxidative phosphorylation deficiency 38, MIM#\t618378\nReview for gene: MRPS14 was set to RED\nAdded comment: Single individual reported, functional data. \nSources: Expert list","entity_name":"MRPS14","entity_type":"gene"},{"created":"2020-01-05T16:55:40.492669+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.667","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLEKHG2 as ready","entity_name":"PLEKHG2","entity_type":"gene"},{"created":"2020-01-05T16:55:40.486621+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.667","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plekhg2 has been classified as Red List (Low Evidence).","entity_name":"PLEKHG2","entity_type":"gene"},{"created":"2020-01-05T16:55:25.748436+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.667","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLEKHG2 was added\ngene: PLEKHG2 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: PLEKHG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLEKHG2 were set to 26573021\nPhenotypes for gene: PLEKHG2 were set to Leukodystrophy and acquired microcephaly with or without dystonia, MIM#\t616763\nReview for gene: PLEKHG2 was set to RED\nAdded comment: Five individuals from two unrelated families reported, same homozygous missense variant. \nSources: Expert list","entity_name":"PLEKHG2","entity_type":"gene"},{"created":"2020-01-05T16:46:38.150712+11:00","panel_name":"Optic Atrophy_VCGS","panel_id":149,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UFM1 as ready","entity_name":"UFM1","entity_type":"gene"},{"created":"2020-01-05T16:46:38.143892+11:00","panel_name":"Optic Atrophy_VCGS","panel_id":149,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ufm1 has been classified as Green List (High Evidence).","entity_name":"UFM1","entity_type":"gene"},{"created":"2020-01-05T16:46:34.375322+11:00","panel_name":"Optic Atrophy_VCGS","panel_id":149,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UFM1 were changed from  to Leukodystrophy, hypomyelinating, 14, MIM# 617899","entity_name":"UFM1","entity_type":"gene"},{"created":"2020-01-05T16:45:54.715399+11:00","panel_name":"Optic Atrophy_VCGS","panel_id":149,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UFM1 were set to ","entity_name":"UFM1","entity_type":"gene"},{"created":"2020-01-05T16:45:22.660138+11:00","panel_name":"Optic Atrophy_VCGS","panel_id":149,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UFM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"UFM1","entity_type":"gene"},{"created":"2020-01-05T16:44:44.688974+11:00","panel_name":"Optic Atrophy_VCGS","panel_id":149,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28931644, 29868776; Phenotypes: Leukodystrophy, hypomyelinating, 14, MIM# 617899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UFM1","entity_type":"gene"},{"created":"2020-01-05T16:43:46.932505+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.666","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UFM1 as ready","entity_name":"UFM1","entity_type":"gene"},{"created":"2020-01-05T16:43:46.926683+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.666","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ufm1 has been classified as Green List (High Evidence).","entity_name":"UFM1","entity_type":"gene"},{"created":"2020-01-05T16:43:43.609215+11:00","panel_name":"Cerebellar and Pontocerebellar hypoplasia_VCGS","panel_id":72,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28931644, 29868776; Phenotypes: Leukodystrophy, hypomyelinating, 14, MIM# 617899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UFM1","entity_type":"gene"},{"created":"2020-01-05T16:42:19.059049+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UFM1 were changed from Leukodystrophy, hypomyelinating, 14, MIM# 617899 to Leukodystrophy, hypomyelinating, 14, MIM# 617899","entity_name":"UFM1","entity_type":"gene"},{"created":"2020-01-05T16:42:07.671920+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UFM1 as ready","entity_name":"UFM1","entity_type":"gene"},{"created":"2020-01-05T16:42:07.660683+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ufm1 has been classified as Green List (High Evidence).","entity_name":"UFM1","entity_type":"gene"},{"created":"2020-01-05T16:41:52.907322+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UFM1 were changed from  to Leukodystrophy, hypomyelinating, 14, MIM# 617899","entity_name":"UFM1","entity_type":"gene"},{"created":"2020-01-05T16:41:49.959377+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.666","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UFM1 were changed from  to Leukodystrophy, hypomyelinating, 14, MIM# 617899","entity_name":"UFM1","entity_type":"gene"},{"created":"2020-01-05T16:41:12.245117+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.665","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UFM1 were set to ","entity_name":"UFM1","entity_type":"gene"},{"created":"2020-01-05T16:40:53.159289+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.664","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UFM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"UFM1","entity_type":"gene"},{"created":"2020-01-05T16:40:28.862098+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.663","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28931644, 29868776; Phenotypes: Leukodystrophy, hypomyelinating, 14, MIM# 617899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UFM1","entity_type":"gene"},{"created":"2020-01-05T16:40:21.258347+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UFM1 were set to ","entity_name":"UFM1","entity_type":"gene"},{"created":"2020-01-05T16:39:19.863680+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UFM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"UFM1","entity_type":"gene"},{"created":"2020-01-05T16:38:42.519425+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28931644, 29868776; Phenotypes: Leukodystrophy, hypomyelinating, 14, MIM# 617899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UFM1","entity_type":"gene"},{"created":"2020-01-05T16:32:42.157423+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.663","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HIKESHI as ready","entity_name":"HIKESHI","entity_type":"gene"},{"created":"2020-01-05T16:32:42.151132+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.663","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hikeshi has been classified as Green List (High Evidence).","entity_name":"HIKESHI","entity_type":"gene"},{"created":"2020-01-05T16:32:33.273758+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.663","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HIKESHI were changed from  to Leukodystrophy, hypomyelinating, 13, MIM# 616881","entity_name":"HIKESHI","entity_type":"gene"},{"created":"2020-01-05T16:32:17.698352+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.662","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HIKESHI were set to ","entity_name":"HIKESHI","entity_type":"gene"},{"created":"2020-01-05T16:31:57.152555+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.661","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HIKESHI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HIKESHI","entity_type":"gene"},{"created":"2020-01-05T16:31:33.844043+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.660","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HIKESHI: Rating: GREEN; Mode of pathogenicity: None; Publications: 26545878; Phenotypes: Leukodystrophy, hypomyelinating, 13, MIM# 616881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HIKESHI","entity_type":"gene"},{"created":"2020-01-05T16:24:40.631937+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.660","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AIMP2 was added\ngene: AIMP2 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: AIMP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AIMP2 were set to 29215095\nPhenotypes for gene: AIMP2 were set to Leukodystrophy, hypomyelinating, 17\t618006\nReview for gene: AIMP2 was set to RED\nAdded comment: Two apparently unrelated consanguineous families, however same homozygous variant identified in both. Affected individuals had early-onset multifocal seizures, spasticity, poor overall growth, and microcephaly (up to -10 SD). Brain imaging showed multiple abnormalities, including cerebral and cerebellar atrophy, thin corpus callosum, abnormal signals in the basal ganglia, and features suggesting hypo- or demyelination \nSources: Expert list","entity_name":"AIMP2","entity_type":"gene"},{"created":"2020-01-05T16:11:56.076380+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.659","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM63A as ready","entity_name":"TMEM63A","entity_type":"gene"},{"created":"2020-01-05T16:11:56.069688+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.659","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem63a has been classified as Green List (High Evidence).","entity_name":"TMEM63A","entity_type":"gene"},{"created":"2020-01-05T16:11:45.553612+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.659","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM63A as Green List (high evidence)","entity_name":"TMEM63A","entity_type":"gene"},{"created":"2020-01-05T16:11:45.547631+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.659","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem63a has been classified as Green List (High Evidence).","entity_name":"TMEM63A","entity_type":"gene"},{"created":"2020-01-05T16:11:19.699935+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.658","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMEM63A was added\ngene: TMEM63A was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: TMEM63A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TMEM63A were set to 31587869\nPhenotypes for gene: TMEM63A were set to Leukodystrophy, hypomyelinating, 19, transient infantile, MIM#\t618688\nReview for gene: TMEM63A was set to GREEN\nAdded comment: Four unrelated families reported; in three individuals, the variant was de novo, and inherited from a deceased parent in the fourth. \nSources: Expert list","entity_name":"TMEM63A","entity_type":"gene"},{"created":"2020-01-05T16:05:44.547933+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.657","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EPRS were changed from  to Leukodystrophy, hypomyelinating, 15, MIM# 617951","entity_name":"EPRS","entity_type":"gene"},{"created":"2020-01-05T16:05:25.129837+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.656","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EPRS were set to ","entity_name":"EPRS","entity_type":"gene"},{"created":"2020-01-05T16:05:10.336533+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.655","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EPRS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EPRS","entity_type":"gene"},{"created":"2020-01-05T16:04:49.808590+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.654","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EPRS: Rating: GREEN; Mode of pathogenicity: None; Publications: 29576217; Phenotypes: Leukodystrophy, hypomyelinating, 15, MIM# 617951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EPRS","entity_type":"gene"},{"created":"2020-01-05T14:59:46.530798+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.654","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FZD3 as ready","entity_name":"FZD3","entity_type":"gene"},{"created":"2020-01-05T14:59:46.523978+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.654","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fzd3 has been classified as Red List (Low Evidence).","entity_name":"FZD3","entity_type":"gene"},{"created":"2020-01-05T14:59:36.694954+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.654","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FZD3 as Red List (low evidence)","entity_name":"FZD3","entity_type":"gene"},{"created":"2020-01-05T14:59:36.687187+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.654","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fzd3 has been classified as Red List (Low Evidence).","entity_name":"FZD3","entity_type":"gene"},{"created":"2020-01-05T14:59:18.369274+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.653","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FZD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"FZD3","entity_type":"gene"},{"created":"2020-01-05T14:58:57.606679+11:00","panel_name":"Cerebellar and Pontocerebellar hypoplasia_VCGS","panel_id":72,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FZD3 as ready","entity_name":"FZD3","entity_type":"gene"},{"created":"2020-01-05T14:58:57.597715+11:00","panel_name":"Cerebellar and Pontocerebellar hypoplasia_VCGS","panel_id":72,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fzd3 has been classified as Red List (Low Evidence).","entity_name":"FZD3","entity_type":"gene"},{"created":"2020-01-05T14:58:52.867431+11:00","panel_name":"Cerebellar and Pontocerebellar hypoplasia_VCGS","panel_id":72,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FZD3 as Red List (low evidence)","entity_name":"FZD3","entity_type":"gene"},{"created":"2020-01-05T14:58:52.851957+11:00","panel_name":"Cerebellar and Pontocerebellar hypoplasia_VCGS","panel_id":72,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fzd3 has been classified as Red List (Low Evidence).","entity_name":"FZD3","entity_type":"gene"},{"created":"2020-01-05T14:58:18.132167+11:00","panel_name":"Cerebellar and Pontocerebellar hypoplasia_VCGS","panel_id":72,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FZD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"FZD3","entity_type":"gene"},{"created":"2020-01-05T14:57:49.037137+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1507","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FZD3 as ready","entity_name":"FZD3","entity_type":"gene"},{"created":"2020-01-05T14:57:49.030080+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1507","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fzd3 has been classified as Red List (Low Evidence).","entity_name":"FZD3","entity_type":"gene"},{"created":"2020-01-05T14:57:40.275107+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1507","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FZD3 as Red List (low evidence)","entity_name":"FZD3","entity_type":"gene"},{"created":"2020-01-05T14:57:40.256422+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1507","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fzd3 has been classified as Red List (Low Evidence).","entity_name":"FZD3","entity_type":"gene"},{"created":"2020-01-05T14:57:28.494215+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1506","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FZD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"FZD3","entity_type":"gene"},{"created":"2020-01-05T14:51:35.911601+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.653","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: H3F3B as Amber List (moderate evidence)","entity_name":"H3F3B","entity_type":"gene"},{"created":"2020-01-05T14:51:35.905627+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.653","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: h3f3b has been classified as Amber List (Moderate Evidence).","entity_name":"H3F3B","entity_type":"gene"},{"created":"2020-01-05T14:51:16.547174+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.652","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: H3F3B: Elizabeth J Bhoj, H3F3A/B Consortium, Hakon H. Hakonarson.: Mutations In H3f3a And H3f3b Encoding Histone 3.3: Report Of 26 Patients With Neurodevelopmental And Congenital Manifestations. American Society of Human Genetics, Orlando, FL October 2017 Notes: Platform Presentation.","entity_name":"H3F3B","entity_type":"gene"},{"created":"2020-01-05T14:50:45.921109+11:00","panel_name":"Regression_VCGS","panel_id":206,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: H3F3B as Amber List (moderate evidence)","entity_name":"H3F3B","entity_type":"gene"},{"created":"2020-01-05T14:50:45.914289+11:00","panel_name":"Regression_VCGS","panel_id":206,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: h3f3b has been classified as Amber List (Moderate Evidence).","entity_name":"H3F3B","entity_type":"gene"},{"created":"2020-01-05T14:50:09.136492+11:00","panel_name":"Regression_VCGS","panel_id":206,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: H3F3B: Elizabeth J Bhoj, H3F3A/B Consortium, Hakon H. Hakonarson.: Mutations In H3f3a And H3f3b Encoding Histone 3.3: Report Of 26 Patients With Neurodevelopmental And Congenital Manifestations. American Society of Human Genetics, Orlando, FL October 2017 Notes: Platform Presentation.","entity_name":"H3F3B","entity_type":"gene"},{"created":"2020-01-05T14:49:45.283085+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.652","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: H3F3A as ready","entity_name":"H3F3A","entity_type":"gene"},{"created":"2020-01-05T14:49:45.274783+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.652","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: h3f3a has been classified as Amber List (Moderate Evidence).","entity_name":"H3F3A","entity_type":"gene"},{"created":"2020-01-05T14:49:34.748895+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.652","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: H3F3A as Amber List (moderate evidence)","entity_name":"H3F3A","entity_type":"gene"}]}