{"count":220423,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1496","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1494","results":[{"created":"2020-11-27T10:21:56.785455+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.155","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tmem218 has been classified as Green List (High Evidence).","entity_name":"TMEM218","entity_type":"gene"},{"created":"2020-11-27T10:21:43.000542+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.154","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TMEM218 was added\ngene: TMEM218 was added to Syndromic Retinopathy. Sources: Literature\nMode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM218 were set to https://doi.org/10.1016/j.xhgg.2020.100016; 25161209\nPhenotypes for gene: TMEM218 were set to Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele\nReview for gene: TMEM218 was set to GREEN\nAdded comment: 11 cases in 6 families with homozygous or compound heterozygous missense and nonsense (1) variants, with a Joubert/Meckel syndrome phenotype. Clinical features included the molar tooth sign (N=2), occipital encephalocele (N=5, all fetuses), retinal dystrophy (N=4, all living individuals), polycystic kidneys (N=2), and polydactyly (N=2), without liver involvement. A null mouse model had nephronophthisis and retinal degeneration. No OMIM entry. \nSources: Literature","entity_name":"TMEM218","entity_type":"gene"},{"created":"2020-11-27T10:19:10.520019+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.90","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TMEM218 as ready","entity_name":"TMEM218","entity_type":"gene"},{"created":"2020-11-27T10:19:10.508159+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.90","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tmem218 has been classified as Green List (High Evidence).","entity_name":"TMEM218","entity_type":"gene"},{"created":"2020-11-27T10:19:04.414044+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.90","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TMEM218 as Green List (high evidence)","entity_name":"TMEM218","entity_type":"gene"},{"created":"2020-11-27T10:19:04.403190+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.90","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tmem218 has been classified as Green List (High Evidence).","entity_name":"TMEM218","entity_type":"gene"},{"created":"2020-11-27T10:17:32.912931+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.89","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TMEM218 was added\ngene: TMEM218 was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature\nMode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM218 were set to https://doi.org/10.1016/j.xhgg.2020.100016; 25161209\nPhenotypes for gene: TMEM218 were set to Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele\nReview for gene: TMEM218 was set to GREEN\nAdded comment: 11 cases in 6 families with homozygous or compound heterozygous missense and nonsense (1) variants, with a Joubert/Meckel syndrome phenotype. Clinical features included the molar tooth sign (N=2), occipital encephalocele (N=5, all fetuses), retinal dystrophy (N=4, all living individuals), polycystic kidneys (N=2), and polydactyly (N=2), without liver involvement. A null mouse model had nephronophthisis and retinal degeneration. No OMIM entry. \nSources: Literature","entity_name":"TMEM218","entity_type":"gene"},{"created":"2020-11-27T10:14:44.479286+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5474","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TMEM218 as ready","entity_name":"TMEM218","entity_type":"gene"},{"created":"2020-11-27T10:14:44.462160+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5474","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tmem218 has been classified as Green List (High Evidence).","entity_name":"TMEM218","entity_type":"gene"},{"created":"2020-11-27T10:14:36.808119+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5474","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TMEM218 as Green List (high evidence)","entity_name":"TMEM218","entity_type":"gene"},{"created":"2020-11-27T10:14:36.800752+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5474","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tmem218 has been classified as Green List (High Evidence).","entity_name":"TMEM218","entity_type":"gene"},{"created":"2020-11-27T10:14:15.821510+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5473","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TMEM218 was added\ngene: TMEM218 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM218 were set to https://doi.org/10.1016/j.xhgg.2020.100016; 25161209\nPhenotypes for gene: TMEM218 were set to Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele\nReview for gene: TMEM218 was set to GREEN\nAdded comment: 11 cases in 6 families with homozygous or compound heterozygous missense and nonsense (1) variants, with a Joubert/Meckel syndrome phenotype. Clinical features included the molar tooth sign (N=2), occipital encephalocele (N=5, all fetuses), retinal dystrophy (N=4, all living individuals), polycystic kidneys (N=2), and polydactyly (N=2), without liver involvement. A null mouse model  had nephronophthisis and retinal degeneration. No OMIM entry. \nSources: Literature","entity_name":"TMEM218","entity_type":"gene"},{"created":"2020-11-27T09:31:53.814147+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5472","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AGBL1 as ready","entity_name":"AGBL1","entity_type":"gene"},{"created":"2020-11-27T09:31:53.806491+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5472","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: agbl1 has been classified as Red List (Low Evidence).","entity_name":"AGBL1","entity_type":"gene"},{"created":"2020-11-27T09:31:42.313576+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5472","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AGBL1 was added\ngene: AGBL1 was added to Mendeliome. Sources: Expert Review\ndisputed tags were added to gene: AGBL1.\nMode of inheritance for gene: AGBL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AGBL1 were set to 24094747; 31555324\nPhenotypes for gene: AGBL1 were set to Corneal dystrophy, Fuchs endothelial, 8, MIM#\t615523\nReview for gene: AGBL1 was set to RED\nAdded comment: Gene disease association first reported in 2013 in PMID 24094747, in a large multigenerational family. However, note the variant reported, p.Arg1028Ter is present in over 400 hets in gnomad. Another variant reported in same paper, p.Cys990Ser in three unrelated individuals, is present in over 300 hets in gnomad and 1 hom.\r\n\r\nTwo further variants reported in PMID 31555324, one is missense, p.Arg748His, present in 60 hets, and the other, p.Arg1028Ter, is present is the variant identified in the previous publication, present in over 400 hets.\r\n\r\nThese variant frequencies are out of keeping for a rare disorder. \nSources: Expert Review","entity_name":"AGBL1","entity_type":"gene"},{"created":"2020-11-27T08:58:33.058864+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5471","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TLE6 as ready","entity_name":"TLE6","entity_type":"gene"},{"created":"2020-11-27T08:58:33.050574+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5471","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tle6 has been classified as Green List (High Evidence).","entity_name":"TLE6","entity_type":"gene"},{"created":"2020-11-27T08:58:23.538399+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5471","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TLE6 as Green List (high evidence)","entity_name":"TLE6","entity_type":"gene"},{"created":"2020-11-27T08:58:23.529875+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5471","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tle6 has been classified as Green List (High Evidence).","entity_name":"TLE6","entity_type":"gene"},{"created":"2020-11-27T08:58:04.968382+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5470","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TLE6 was added\ngene: TLE6 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: TLE6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TLE6 were set to 26537248; 31897846\nPhenotypes for gene: TLE6 were set to Preimplantation embryonic lethality, MIM#\t616814\nReview for gene: TLE6 was set to GREEN\nAdded comment: At least 5 individuals reported with bi-allelic variants and early embryonic lethality. \nSources: Expert Review","entity_name":"TLE6","entity_type":"gene"},{"created":"2020-11-26T13:38:06.187691+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3221","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OGT as ready","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:38:06.177957+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3221","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ogt has been classified as Green List (High Evidence).","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:36:26.879693+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3221","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OGT were changed from  to Mental retardation, X-linked 106, MIM# 300997","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:35:43.074671+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3220","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OGT were set to ","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:34:42.699877+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3219","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: OGT was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:34:10.536838+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3218","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: OGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 28302723, 28584052, 31296563, 31627256, 29769320, 29606577; Phenotypes: Mental retardation, X-linked 106, MIM# 300997; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:33:00.953126+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5469","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OGT as ready","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:33:00.942700+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5469","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ogt has been classified as Green List (High Evidence).","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:32:54.402064+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5469","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OGT were changed from  to Mental retardation, X-linked 106, MIM# 300997","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:32:32.362932+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5468","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OGT were set to ","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:32:12.193148+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5467","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: OGT was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:31:52.861425+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5466","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: OGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 28302723, 28584052, 31296563, 31627256, 29769320, 29606577; Phenotypes: Mental retardation, X-linked 106, MIM# 300997; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:31:09.680880+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OGT as ready","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:31:09.664771+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ogt has been classified as Green List (High Evidence).","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:31:05.691039+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: OGT as Green List (high evidence)","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:31:05.681678+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ogt has been classified as Green List (High Evidence).","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:30:30.594889+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OGT was added\ngene: OGT was added to Congenital Disorders of Glycosylation. Sources: Expert Review\nMode of inheritance for gene: OGT was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: OGT were set to 28302723; 28584052; 31296563; 31627256; 29769320; 29606577\nPhenotypes for gene: OGT were set to Mental retardation, X-linked 106, MIM#\t300997\nReview for gene: OGT was set to GREEN\nAdded comment: OGT encodes O-GlcNAc transferase subunit p110. More than 5 unrelated families reported, presenting with ID, hypotonia, eye abnormalities, hearing impairment, behavioural problems, short stature, dysmorphism. Functional data supports gene-disease association. \nSources: Expert Review","entity_name":"OGT","entity_type":"gene"},{"created":"2020-11-26T13:21:48.453126+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EXTL3 as ready","entity_name":"EXTL3","entity_type":"gene"},{"created":"2020-11-26T13:21:48.442702+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: extl3 has been classified as Green List (High Evidence).","entity_name":"EXTL3","entity_type":"gene"},{"created":"2020-11-26T13:21:44.327880+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EXTL3 as Green List (high evidence)","entity_name":"EXTL3","entity_type":"gene"},{"created":"2020-11-26T13:21:44.314079+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: extl3 has been classified as Green List (High Evidence).","entity_name":"EXTL3","entity_type":"gene"},{"created":"2020-11-26T13:21:15.558173+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EXTL3 was added\ngene: EXTL3 was added to Congenital Disorders of Glycosylation. Sources: Expert Review\nMode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXTL3 were set to 28132690; 28148688; 28331220\nPhenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425\nReview for gene: EXTL3 was set to GREEN\nAdded comment: EXTL3 is a glycosyltransferase involved in the synthesis of heparin and heparan sulfate. 8 unrelated families reported with skeletal dysplasia +/- immune deficiency and neurodevelopmental abnormalities. \nSources: Expert Review","entity_name":"EXTL3","entity_type":"gene"},{"created":"2020-11-26T13:19:47.282589+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5466","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EXTL3 as ready","entity_name":"EXTL3","entity_type":"gene"},{"created":"2020-11-26T13:19:47.273661+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5466","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: extl3 has been classified as Green List (High Evidence).","entity_name":"EXTL3","entity_type":"gene"},{"created":"2020-11-26T13:19:39.987254+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5466","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EXTL3 were changed from  to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425","entity_name":"EXTL3","entity_type":"gene"},{"created":"2020-11-26T13:19:16.611191+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5465","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EXTL3 were set to ","entity_name":"EXTL3","entity_type":"gene"},{"created":"2020-11-26T13:18:57.589290+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5464","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EXTL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXTL3","entity_type":"gene"},{"created":"2020-11-26T13:18:38.933245+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5463","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EXTL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132690, 28148688, 28331220; Phenotypes: Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXTL3","entity_type":"gene"},{"created":"2020-11-26T11:54:49.201044+11:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"0.2","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NPPA: Rating: AMBER; Mode of pathogenicity: None; Publications: 18614783, 20064500, 31034774, 31077706; Phenotypes: Atrial fibrillation, familial, 6, (MIM#612201); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NPPA","entity_type":"gene"},{"created":"2020-11-25T22:02:26.826886+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5463","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SSR3 as ready","entity_name":"SSR3","entity_type":"gene"},{"created":"2020-11-25T22:02:26.815976+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5463","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ssr3 has been classified as Amber List (Moderate Evidence).","entity_name":"SSR3","entity_type":"gene"},{"created":"2020-11-25T22:02:00.817028+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5463","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SSR3 as Amber List (moderate evidence)","entity_name":"SSR3","entity_type":"gene"},{"created":"2020-11-25T22:02:00.808528+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5463","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ssr3 has been classified as Amber List (Moderate Evidence).","entity_name":"SSR3","entity_type":"gene"},{"created":"2020-11-25T22:01:42.172670+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5462","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SSR3 was added\ngene: SSR3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SSR3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SSR3 were set to 30945312\nPhenotypes for gene: SSR3 were set to Congenital disorder of glycosylation\nReview for gene: SSR3 was set to AMBER\nAdded comment: Single individual reported with an unsolved type I CDG, intellectual disability, homozygous LOF variant in SSR3, supportive functional evidence. \nSources: Literature","entity_name":"SSR3","entity_type":"gene"},{"created":"2020-11-25T22:00:18.044734+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SSR3 as ready","entity_name":"SSR3","entity_type":"gene"},{"created":"2020-11-25T22:00:18.033058+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ssr3 has been classified as Amber List (Moderate Evidence).","entity_name":"SSR3","entity_type":"gene"},{"created":"2020-11-25T22:00:12.481047+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SSR3 as Amber List (moderate evidence)","entity_name":"SSR3","entity_type":"gene"},{"created":"2020-11-25T22:00:12.463991+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ssr3 has been classified as Amber List (Moderate Evidence).","entity_name":"SSR3","entity_type":"gene"},{"created":"2020-11-25T21:59:41.693593+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SSR3 was added\ngene: SSR3 was added to Congenital Disorders of Glycosylation. Sources: Literature\nMode of inheritance for gene: SSR3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SSR3 were set to 30945312\nPhenotypes for gene: SSR3 were set to Congenital disorder of glycosylation\nReview for gene: SSR3 was set to AMBER\nAdded comment: Single individual reported with an unsolved type I CDG, intellectual disability, homozygous LOF variant in SSR3, supportive functional evidence. \nSources: Literature","entity_name":"SSR3","entity_type":"gene"},{"created":"2020-11-25T21:48:35.020402+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5461","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LCP2 as ready","entity_name":"LCP2","entity_type":"gene"},{"created":"2020-11-25T21:48:34.992927+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5461","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lcp2 has been classified as Red List (Low Evidence).","entity_name":"LCP2","entity_type":"gene"},{"created":"2020-11-25T21:48:24.335423+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5461","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LCP2 was added\ngene: LCP2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LCP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LCP2 were set to 33231617\nPhenotypes for gene: LCP2 were set to Severe combined immunodeficiency\nReview for gene: LCP2 was set to RED\nAdded comment: Infant with bi-allelic variants in this gene and early-onset life-threatening infections, combined T and B cell immunodeficiency, severe neutrophil defects, and impaired platelet aggregation. \nSources: Literature","entity_name":"LCP2","entity_type":"gene"},{"created":"2020-11-25T21:32:05.566710+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3218","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DPM2 as Green List (high evidence)","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-11-25T21:32:05.558661+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3218","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpm2 has been classified as Green List (High Evidence).","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-11-25T21:31:34.539201+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3217","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DPM2: Added comment: Further unrelated individual reported, main clinical features were truncal hypotonia, hypertonicity, congenital heart defects, intellectual disability, and generalized muscle wasting.; Changed rating: GREEN; Changed publications: 23109149, 33129689","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-11-25T21:30:51.461960+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5460","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DPM2 were set to 23109149","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-11-25T21:30:32.152388+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5459","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DPM2 as Green List (high evidence)","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-11-25T21:30:32.144955+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5459","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpm2 has been classified as Green List (High Evidence).","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-11-25T21:30:13.338874+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5458","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DPM2: Added comment: Further unrelated individual reported, main clinical features were truncal hypotonia, hypertonicity, congenital heart defects, intellectual disability, and generalized muscle wasting.; Changed rating: GREEN; Changed publications: 23109149, 33129689","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-11-25T21:29:29.636964+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DPM2 were set to 23109149","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-11-25T21:28:41.161408+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DPM2 as Green List (high evidence)","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-11-25T21:28:41.152676+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpm2 has been classified as Green List (High Evidence).","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-11-25T21:28:11.837585+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Further family reported.; to: Further unrelated individual reported, main clinical features were truncal hypotonia, hypertonicity, congenital heart defects, intellectual disability, and generalized muscle wasting.","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-11-25T21:27:37.748170+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DPM2: Added comment: Further family reported.; Changed rating: GREEN; Changed publications: 23109149, 33129689","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-11-25T21:23:52.231506+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5458","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP6V0A2 as ready","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2020-11-25T21:23:52.223423+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5458","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp6v0a2 has been classified as Green List (High Evidence).","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2020-11-25T21:23:44.921186+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5458","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP6V0A2 were changed from  to Cutis laxa, autosomal recessive, type IIA, MIM# 219200; Wrinkly skin syndrome, MIM#278250","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2020-11-25T21:23:23.000333+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5457","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP6V0A2 were set to ","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2020-11-25T21:23:06.267348+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5456","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATP6V0A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2020-11-25T21:23:04.339829+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP6V0A2 as ready","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2020-11-25T21:23:04.330730+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp6v0a2 has been classified as Green List (High Evidence).","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2020-11-25T21:22:50.890215+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP6V0A2 were changed from  to Cutis laxa, autosomal recessive, type IIA, MIM# 219200; Wrinkly skin syndrome, MIM#278250","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2020-11-25T21:22:45.996849+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5455","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP6V0A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29952037, 22773132; Phenotypes: Cutis laxa, autosomal recessive, type IIA, MIM# 219200, Wrinkly skin syndrome, MIM#278250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2020-11-25T21:22:24.030647+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP6V0A2 were set to ","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2020-11-25T21:21:51.547075+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATP6V0A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2020-11-25T21:21:16.980847+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP6V0A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29952037, 22773132; Phenotypes: Cutis laxa, autosomal recessive, type IIA, MIM# 219200, Wrinkly skin syndrome, MIM#278250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2020-11-25T21:16:29.634224+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG9 as ready","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:16:29.625657+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg9 has been classified as Green List (High Evidence).","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:16:25.725742+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG9 were changed from Congenital disorder of glycosylation, type Il to Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:16:04.362716+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.162","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALG9 were set to ","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:15:51.670015+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALG9 as Green List (high evidence)","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:15:51.659434+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg9 has been classified as Green List (High Evidence).","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:15:38.160245+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28932688, 25966638, 26453364; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776, Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:14:13.451636+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3217","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG9 as ready","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:14:13.439150+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3217","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg9 has been classified as Green List (High Evidence).","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:14:08.523808+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3217","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG9 were changed from  to Congenital disorder of glycosylation, type Il, MIM#608776","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:13:36.656021+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3216","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALG9 were set to ","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:13:03.592302+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3215","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALG9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:12:24.997357+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.925","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG9 as ready","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-11-25T21:12:24.987320+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.925","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg9 has been classified as Green List (High Evidence).","entity_name":"ALG9","entity_type":"gene"}]}