{"count":220265,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1426","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1424","results":[{"created":"2021-02-03T07:48:56.711259+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6196","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAJC30 as ready","entity_name":"DNAJC30","entity_type":"gene"},{"created":"2021-02-03T07:48:56.703452+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6196","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajc30 has been classified as Green List (High Evidence).","entity_name":"DNAJC30","entity_type":"gene"},{"created":"2021-02-03T07:48:48.379447+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6196","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DNAJC30 as Green List (high evidence)","entity_name":"DNAJC30","entity_type":"gene"},{"created":"2021-02-03T07:48:48.364845+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6196","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajc30 has been classified as Green List (High Evidence).","entity_name":"DNAJC30","entity_type":"gene"},{"created":"2021-02-03T07:48:31.268438+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6195","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNAJC30 was added\ngene: DNAJC30 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DNAJC30 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAJC30 were set to 33465056\nPhenotypes for gene: DNAJC30 were set to Leber Hereditary Optic Neuropathy\nReview for gene: DNAJC30 was set to GREEN\nAdded comment: 33 individuals from 29 families had homozygous DNAJC30 missense variants. Three different variants identified (one responsible for most cases). All three variants absent from gnomAD. Incomplete penetrance and male predominance in affected individuals both typical of LHON due to mtDNA mutations. All 3 variants in the J domain of the protein. Functional evidence. \nSources: Literature","entity_name":"DNAJC30","entity_type":"gene"},{"created":"2021-02-03T07:44:15.635276+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.576","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAJC30 as ready","entity_name":"DNAJC30","entity_type":"gene"},{"created":"2021-02-03T07:44:15.626860+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.576","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajc30 has been classified as Green List (High Evidence).","entity_name":"DNAJC30","entity_type":"gene"},{"created":"2021-02-03T07:44:05.479755+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.576","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DNAJC30 as Green List (high evidence)","entity_name":"DNAJC30","entity_type":"gene"},{"created":"2021-02-03T07:44:05.467434+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.576","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajc30 has been classified as Green List (High Evidence).","entity_name":"DNAJC30","entity_type":"gene"},{"created":"2021-02-02T21:01:19.385785+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.575","user_name":"John Christodoulou","item_type":"entity","text":"gene: DNAJC30 was added\ngene: DNAJC30 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: DNAJC30 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAJC30 were set to PMID: 33465056\nPhenotypes for gene: DNAJC30 were set to Leber Hereditary Optic Neuropathy\nPenetrance for gene: DNAJC30 were set to Incomplete\nReview for gene: DNAJC30 was set to GREEN\nAdded comment: 33 individuals from 29 families had homozygous DNAJC30 missense variants.  Three different variants identified (one responsible for most cases0.\r\nAll three variants not seen in gnomAD.\r\nInterestingly - incomplete penetrance and male predominance in affected individuals  both typical of LHON due to mtDNA mutations!\r\nAll 3 variants in the J domain of the protein.\r\nGood functional evidence also provided\r\nThis is the first nuclear encoded phenocopy of mtLHON. \nSources: Literature","entity_name":"DNAJC30","entity_type":"gene"},{"created":"2021-02-02T20:30:06.371858+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STS as ready","entity_name":"STS","entity_type":"gene"},{"created":"2021-02-02T20:30:06.364344+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sts has been classified as Green List (High Evidence).","entity_name":"STS","entity_type":"gene"},{"created":"2021-02-02T20:30:02.079441+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: STS as Green List (high evidence)","entity_name":"STS","entity_type":"gene"},{"created":"2021-02-02T20:30:02.062853+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sts has been classified as Green List (High Evidence).","entity_name":"STS","entity_type":"gene"},{"created":"2021-02-02T20:29:51.649505+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: STS.","entity_name":"STS","entity_type":"gene"},{"created":"2021-02-02T20:29:44.636582+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"gene: STS was added\ngene: STS was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: STS were set to Ichthyosis, X-linked\t308100; Sterol metabolism disorder\nReview for gene: STS was set to GREEN\nAdded comment: Well established gene-disease association. CNVs common. \nSources: Expert list","entity_name":"STS","entity_type":"gene"},{"created":"2021-02-02T19:16:27.428232+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6194","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NFS1 as Green List (high evidence)","entity_name":"NFS1","entity_type":"gene"},{"created":"2021-02-02T19:16:27.420931+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6194","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nfs1 has been classified as Green List (High Evidence).","entity_name":"NFS1","entity_type":"gene"},{"created":"2021-02-02T19:16:06.704399+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6193","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NFS1: Added comment: Second paper reporting another family (consanguineous) with three affected children and supportive functional data. Homozygous for the same missense variant as reported in the 2014 paper - this family of Christian Arab descent; the family in the previous report of Mennonite background. Suggests this is a mutation hotspot.; Changed rating: GREEN; Changed publications: 24498631, 33457206","entity_name":"NFS1","entity_type":"gene"},{"created":"2021-02-02T19:14:55.953562+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.575","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NFS1 as Green List (high evidence)","entity_name":"NFS1","entity_type":"gene"},{"created":"2021-02-02T19:14:55.945990+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.575","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nfs1 has been classified as Green List (High Evidence).","entity_name":"NFS1","entity_type":"gene"},{"created":"2021-02-02T18:58:26.426428+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.574","user_name":"John Christodoulou","item_type":"entity","text":"changed review comment from: Second paper reporting another family (consanguineous) with three affected children and supportive functional data.  \r\nHomozygous for the same missense variant - this family of Christian Arab descent; the family in the previous report of Mennonite background.\r\nSuggests this is a mutation hotspot.; to: Second paper reporting another family (consanguineous) with three affected children and supportive functional data.  \r\nHomozygous for the same missense variant as reported in the 2014 paper - this family of Christian Arab descent; the family in the previous report of Mennonite background.\r\nSuggests this is a mutation hotspot.","entity_name":"NFS1","entity_type":"gene"},{"created":"2021-02-02T18:57:37.692272+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.574","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: NFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33457206; Phenotypes: progressive hypotonia, lactic acidosis, acute metabolic crises, liver dysfunction, increased CPK; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NFS1","entity_type":"gene"},{"created":"2021-02-02T17:25:34.839921+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.102","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ATP8B1 as ready","entity_name":"ATP8B1","entity_type":"gene"},{"created":"2021-02-02T17:25:34.832366+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.102","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atp8b1 has been classified as Green List (High Evidence).","entity_name":"ATP8B1","entity_type":"gene"},{"created":"2021-02-02T17:25:31.693929+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.102","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ATP8B1 as Green List (high evidence)","entity_name":"ATP8B1","entity_type":"gene"},{"created":"2021-02-02T17:25:31.683373+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.102","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atp8b1 has been classified as Green List (High Evidence).","entity_name":"ATP8B1","entity_type":"gene"},{"created":"2021-02-02T17:25:12.894395+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.101","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ATP8B1 was added\ngene: ATP8B1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP8B1 were set to 9500542\nPhenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1 MIM#211600; disorder of bile acid metabolism\nReview for gene: ATP8B1 was set to GREEN\nAdded comment: Well-established gene-disease association (see OMIM entry). ATP8B1 deficiency can cause bile acid synthesis defects. \nSources: NHS GMS","entity_name":"ATP8B1","entity_type":"gene"},{"created":"2021-02-02T15:15:50.634879+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3430","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRIM8 were changed from Intellectual disability; Seizures to Intellectual disability; Seizures; FSGS","entity_name":"TRIM8","entity_type":"gene"},{"created":"2021-02-02T15:15:12.634835+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3429","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRIM8 were set to 30244534; 27346735; 23934111","entity_name":"TRIM8","entity_type":"gene"},{"created":"2021-02-02T15:14:36.185554+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3428","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TRIM8: Added comment: Further 10 families reported.; Changed publications: 30244534, 27346735, 23934111, 33508234; Changed phenotypes: Intellectual disability, Seizures, FSGS","entity_name":"TRIM8","entity_type":"gene"},{"created":"2021-02-02T12:51:52.114529+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1020","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PCDH19 as ready","entity_name":"PCDH19","entity_type":"gene"},{"created":"2021-02-02T12:51:52.104025+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1020","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcdh19 has been classified as Green List (High Evidence).","entity_name":"PCDH19","entity_type":"gene"},{"created":"2021-02-02T12:51:48.501572+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1020","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PCDH19 were changed from  to Epileptic encephalopathy, early infantile, 9 300088; PCDH19-related epilepsy (early seizure onset, generalised or focused seizures); cognitive impairment","entity_name":"PCDH19","entity_type":"gene"},{"created":"2021-02-02T12:51:19.087160+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1019","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PCDH19 were set to 18469813; 30287595","entity_name":"PCDH19","entity_type":"gene"},{"created":"2021-02-02T12:50:57.046647+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1019","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PCDH19 were set to ","entity_name":"PCDH19","entity_type":"gene"},{"created":"2021-02-02T12:48:42.599445+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1018","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PCDH19 was changed from Unknown to Other","entity_name":"PCDH19","entity_type":"gene"},{"created":"2021-02-02T12:48:11.242295+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1017","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PCDH19: Rating: GREEN; Mode of pathogenicity: None; Publications: 18469813, 30287595; Phenotypes: Epileptic encephalopathy, early infantile, 9 300088, PCDH19-related epilepsy (early seizure onset, generalised or focused seizures), cognitive impairment; Mode of inheritance: Other","entity_name":"PCDH19","entity_type":"gene"},{"created":"2021-02-02T12:45:26.601301+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6193","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PCDH19 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to Other","entity_name":"PCDH19","entity_type":"gene"},{"created":"2021-02-02T12:45:04.862912+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6192","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PCDH19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Other","entity_name":"PCDH19","entity_type":"gene"},{"created":"2021-02-02T09:58:17.558447+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1017","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC7A6OS as ready","entity_name":"SLC7A6OS","entity_type":"gene"},{"created":"2021-02-02T09:58:17.548073+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1017","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc7a6os has been classified as Red List (Low Evidence).","entity_name":"SLC7A6OS","entity_type":"gene"},{"created":"2021-02-02T09:58:10.024544+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1017","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC7A6OS was added\ngene: SLC7A6OS was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SLC7A6OS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC7A6OS were set to 33085104\nPhenotypes for gene: SLC7A6OS were set to Progressive myoclonus epilepsy\nReview for gene: SLC7A6OS was set to RED\nAdded comment: Two unrelated families reported with same homozygous splice site variant, shared haplotype (founder effect). Limited functional data. \nSources: Literature","entity_name":"SLC7A6OS","entity_type":"gene"},{"created":"2021-02-02T09:56:28.708799+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6192","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC7A6OS as ready","entity_name":"SLC7A6OS","entity_type":"gene"},{"created":"2021-02-02T09:56:28.698011+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6192","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc7a6os has been classified as Red List (Low Evidence).","entity_name":"SLC7A6OS","entity_type":"gene"},{"created":"2021-02-02T09:56:19.616382+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6192","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC7A6OS was added\ngene: SLC7A6OS was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SLC7A6OS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC7A6OS were set to 33085104\nPhenotypes for gene: SLC7A6OS were set to Progressive myoclonus epilepsy\nReview for gene: SLC7A6OS was set to RED\nAdded comment: Two unrelated families reported with same homozygous splice site variant, shared haplotype (founder effect). Limited functional data. \nSources: Literature","entity_name":"SLC7A6OS","entity_type":"gene"},{"created":"2021-02-02T09:53:33.903438+11:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC7A6OS as ready","entity_name":"SLC7A6OS","entity_type":"gene"},{"created":"2021-02-02T09:53:33.893515+11:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc7a6os has been classified as Red List (Low Evidence).","entity_name":"SLC7A6OS","entity_type":"gene"},{"created":"2021-02-02T09:53:27.465713+11:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC7A6OS was added\ngene: SLC7A6OS was added to Progressive Myoclonic Epilepsy. Sources: Literature\nMode of inheritance for gene: SLC7A6OS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC7A6OS were set to 33085104\nPhenotypes for gene: SLC7A6OS were set to Progressive myoclonus epilepsy\nReview for gene: SLC7A6OS was set to RED\nAdded comment: Two unrelated families reported with same homozygous splice site variant, shared haplotype (founder effect). Limited functional data. \nSources: Literature","entity_name":"SLC7A6OS","entity_type":"gene"},{"created":"2021-02-02T09:15:43.705348+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TLR8 as ready","entity_name":"TLR8","entity_type":"gene"},{"created":"2021-02-02T09:15:43.694660+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tlr8 has been classified as Green List (High Evidence).","entity_name":"TLR8","entity_type":"gene"},{"created":"2021-02-02T09:13:44.078782+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TLR8 as Green List (high evidence)","entity_name":"TLR8","entity_type":"gene"},{"created":"2021-02-02T09:13:44.071463+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tlr8 has been classified as Green List (High Evidence).","entity_name":"TLR8","entity_type":"gene"},{"created":"2021-02-02T09:13:13.476518+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TLR8 was added\ngene: TLR8 was added to Combined Immunodeficiency. Sources: Literature\nsomatic tags were added to gene: TLR8.\nMode of inheritance for gene: TLR8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: TLR8 were set to 33512449\nPhenotypes for gene: TLR8 were set to Immunodeficiency; bone marrow failure\nMode of pathogenicity for gene: TLR8 was set to Other\nReview for gene: TLR8 was set to GREEN\nAdded comment: Six unrelated males reported with a phenotype comprising neutropaenia, infections, lymphoproliferation, humoral immune defects, and in some cases bone marrow failure. Three different variants reported, the variant was somatic in 5/6 individuals. GoF mechanism demonstrated. \nSources: Literature","entity_name":"TLR8","entity_type":"gene"},{"created":"2021-02-02T09:11:33.308965+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TLR8 as ready","entity_name":"TLR8","entity_type":"gene"},{"created":"2021-02-02T09:11:33.298586+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tlr8 has been classified as Green List (High Evidence).","entity_name":"TLR8","entity_type":"gene"},{"created":"2021-02-02T09:11:27.756210+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TLR8 as Green List (high evidence)","entity_name":"TLR8","entity_type":"gene"},{"created":"2021-02-02T09:11:27.745980+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tlr8 has been classified as Green List (High Evidence).","entity_name":"TLR8","entity_type":"gene"},{"created":"2021-02-02T09:10:58.405778+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TLR8 was added\ngene: TLR8 was added to Bone Marrow Failure. Sources: Literature\nsomatic tags were added to gene: TLR8.\nMode of inheritance for gene: TLR8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: TLR8 were set to 33512449\nPhenotypes for gene: TLR8 were set to Immunodeficiency; bone marrow failure\nMode of pathogenicity for gene: TLR8 was set to Other\nReview for gene: TLR8 was set to GREEN\nAdded comment: Six unrelated males reported with a phenotype comprising neutropaenia, infections, lymphoproliferation, humoral immune defects, and in some cases bone marrow failure. Three different variants reported, the variant was somatic in 5/6 individuals. GoF mechanism demonstrated. \nSources: Literature","entity_name":"TLR8","entity_type":"gene"},{"created":"2021-02-02T09:09:23.576677+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6191","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TLR8 as ready","entity_name":"TLR8","entity_type":"gene"},{"created":"2021-02-02T09:09:23.568987+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6191","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tlr8 has been classified as Green List (High Evidence).","entity_name":"TLR8","entity_type":"gene"},{"created":"2021-02-02T09:09:13.841241+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6191","user_name":"Zornitza Stark","item_type":"entity","text":"Tag somatic tag was added to gene: TLR8.","entity_name":"TLR8","entity_type":"gene"},{"created":"2021-02-02T09:08:59.553145+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6191","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TLR8 as Green List (high evidence)","entity_name":"TLR8","entity_type":"gene"},{"created":"2021-02-02T09:08:59.545699+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6191","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tlr8 has been classified as Green List (High Evidence).","entity_name":"TLR8","entity_type":"gene"},{"created":"2021-02-02T09:08:41.778370+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6190","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TLR8 was added\ngene: TLR8 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TLR8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: TLR8 were set to 33512449\nPhenotypes for gene: TLR8 were set to Immunodeficiency; bone marrow failure\nMode of pathogenicity for gene: TLR8 was set to Other\nReview for gene: TLR8 was set to GREEN\nAdded comment: Six unrelated males reported with a phenotype comprising neutropaenia, infections, lymphoproliferation, humoral immune defects, and in some cases bone marrow failure. Three different variants reported, the variant was somatic in 5/6 individuals. GoF mechanism demonstrated. \nSources: Literature","entity_name":"TLR8","entity_type":"gene"},{"created":"2021-02-02T09:03:32.302005+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3428","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGF as ready","entity_name":"PIGF","entity_type":"gene"},{"created":"2021-02-02T09:03:32.293583+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3428","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":"2021-02-02T09:03:27.408458+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3428","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIGF as Red List (low evidence)","entity_name":"PIGF","entity_type":"gene"},{"created":"2021-02-02T09:03:27.399835+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3428","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":"2021-02-02T09:02:47.124531+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGF as ready","entity_name":"PIGF","entity_type":"gene"},{"created":"2021-02-02T09:02:47.114552+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":"2021-02-02T09:02:42.198437+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIGF as Red List (low evidence)","entity_name":"PIGF","entity_type":"gene"},{"created":"2021-02-02T09:02:42.190389+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"}]}