{"count":220842,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1970","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1968","results":[{"created":"2020-01-22T18:45:26.217957+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.260","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EIF3F as ready","entity_name":"EIF3F","entity_type":"gene"},{"created":"2020-01-22T18:45:26.206222+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.260","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif3f has been classified as Green List (High Evidence).","entity_name":"EIF3F","entity_type":"gene"},{"created":"2020-01-22T18:31:10.497519+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.260","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EIF3F as Green List (high evidence)","entity_name":"EIF3F","entity_type":"gene"},{"created":"2020-01-22T18:31:10.484452+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.260","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif3f has been classified as Green List (High Evidence).","entity_name":"EIF3F","entity_type":"gene"},{"created":"2020-01-22T18:30:25.011888+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.259","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EIF3F was added\ngene: EIF3F was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EIF3F were set to 30409806\nPhenotypes for gene: EIF3F were set to Mental retardation, autosomal recessive 67, MIM#\t618295\nReview for gene: EIF3F was set to GREEN\ngene: EIF3F was marked as current diagnostic\nAdded comment: 9 patients with intellectual disability from 7 nonconsang families of European ancestry - all hom for the same mutation in EIF3 (Phe232Val); 6/9 had seizures. This variant is one of the most common protein altering variants in the gene and is present at an allele freq of 0.12% but never hom in Non-Finnish Europeans in gnomAD. Functional studies also done on this variant. \nSources: Expert list","entity_name":"EIF3F","entity_type":"gene"},{"created":"2020-01-22T18:25:45.851915+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EFTUD2 as ready","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2020-01-22T18:25:45.840270+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eftud2 has been classified as Green List (High Evidence).","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2020-01-22T18:25:30.823931+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EFTUD2 as Green List (high evidence)","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2020-01-22T18:25:30.811158+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eftud2 has been classified as Green List (High Evidence).","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2020-01-22T18:24:34.020078+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.257","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EFTUD2 was added\ngene: EFTUD2 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EFTUD2 were set to 22305528; 19334086\nPhenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis, Guion-Almeida type, MIM#610536\nReview for gene: EFTUD2 was set to GREEN\nAdded comment: Approximately a third of affected individuals are reported as having seizures. \nSources: Expert list","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2020-01-22T18:22:03.533290+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.256","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EFHC1 were changed from {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 to {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770","entity_name":"EFHC1","entity_type":"gene"},{"created":"2020-01-22T18:21:33.911563+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.256","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EFHC1 were changed from {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 to {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770","entity_name":"EFHC1","entity_type":"gene"},{"created":"2020-01-22T18:21:16.867942+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.256","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EFHC1 as ready","entity_name":"EFHC1","entity_type":"gene"},{"created":"2020-01-22T18:21:16.855195+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.256","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: efhc1 has been classified as Amber List (Moderate Evidence).","entity_name":"EFHC1","entity_type":"gene"},{"created":"2020-01-22T18:21:04.167443+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.928","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EFHC1 as ready","entity_name":"EFHC1","entity_type":"gene"},{"created":"2020-01-22T18:21:04.154584+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.928","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: efhc1 has been classified as Amber List (Moderate Evidence).","entity_name":"EFHC1","entity_type":"gene"},{"created":"2020-01-22T18:21:03.730122+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.256","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EFHC1 were changed from  to {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770","entity_name":"EFHC1","entity_type":"gene"},{"created":"2020-01-22T18:20:47.085349+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.928","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EFHC1 were changed from  to {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770","entity_name":"EFHC1","entity_type":"gene"},{"created":"2020-01-22T18:20:28.175285+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EFHC1 were set to 31056551; 28370826; 29750216","entity_name":"EFHC1","entity_type":"gene"},{"created":"2020-01-22T18:19:57.946118+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.927","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EFHC1 were set to ","entity_name":"EFHC1","entity_type":"gene"},{"created":"2020-01-22T18:19:57.778160+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EFHC1 were set to ","entity_name":"EFHC1","entity_type":"gene"},{"created":"2020-01-22T18:19:23.376844+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EFHC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EFHC1","entity_type":"gene"},{"created":"2020-01-22T18:19:08.263688+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.926","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EFHC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EFHC1","entity_type":"gene"},{"created":"2020-01-22T18:18:38.080047+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.925","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EFHC1 as Amber List (moderate evidence)","entity_name":"EFHC1","entity_type":"gene"},{"created":"2020-01-22T18:18:38.066388+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.925","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: efhc1 has been classified as Amber List (Moderate Evidence).","entity_name":"EFHC1","entity_type":"gene"},{"created":"2020-01-22T18:18:08.864555+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EFHC1 as Amber List (moderate evidence)","entity_name":"EFHC1","entity_type":"gene"},{"created":"2020-01-22T18:18:08.853053+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: efhc1 has been classified as Amber List (Moderate Evidence).","entity_name":"EFHC1","entity_type":"gene"},{"created":"2020-01-22T18:17:27.186111+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EFHC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31056551, 28370826, 29750216; Phenotypes: {Epilepsy, juvenile absence, susceptibility to, 1}, 607631, {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EFHC1","entity_type":"gene"},{"created":"2020-01-22T18:13:49.004768+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DPM2 as ready","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-01-22T18:13:48.992301+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpm2 has been classified as Amber List (Moderate Evidence).","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-01-22T18:13:43.185950+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DPM2 were changed from Congenital disorder of glycosylation, type Iu, MIM#615042 to Congenital disorder of glycosylation, type Iu, MIM#615042","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-01-22T18:13:13.175456+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DPM2 were changed from  to Congenital disorder of glycosylation, type Iu, MIM#615042","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-01-22T18:12:43.373921+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.252","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DPM2 were set to ","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-01-22T18:12:12.855286+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.252","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DPM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-01-22T18:11:38.022952+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DPM2 as Amber List (moderate evidence)","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-01-22T18:11:38.010652+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpm2 has been classified as Amber List (Moderate Evidence).","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-01-22T18:10:56.739929+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.250","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DPM2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23109149; Phenotypes: Congenital disorder of glycosylation, type Iu, MIM#615042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-01-22T18:08:08.301218+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.250","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DOLK as ready","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-01-22T18:08:08.289548+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.250","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dolk has been classified as Green List (High Evidence).","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-01-22T18:08:03.809305+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.250","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DOLK were changed from Congenital disorder of glycosylation type Im, 610768 to Congenital disorder of glycosylation type Im, 610768","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-01-22T18:07:28.064486+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DOLK were changed from  to Congenital disorder of glycosylation type Im, 610768","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-01-22T18:06:58.927752+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DOLK were set to ","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-01-22T18:01:24.809502+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.248","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DOLK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-01-22T18:00:42.650191+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.247","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 23890587, 28816422, 24144945; Phenotypes: Congenital disorder of glycosylation type Im, 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOLK","entity_type":"gene"},{"created":"2020-01-22T17:57:16.705153+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.247","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAJC6 as ready","entity_name":"DNAJC6","entity_type":"gene"},{"created":"2020-01-22T17:57:16.692228+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.247","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajc6 has been classified as Amber List (Moderate Evidence).","entity_name":"DNAJC6","entity_type":"gene"},{"created":"2020-01-22T17:57:05.990063+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.247","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAJC6 were changed from Parkinson disease 19b, early-onset, MIM#615528 to Parkinson disease 19b, early-onset, MIM#615528","entity_name":"DNAJC6","entity_type":"gene"},{"created":"2020-01-22T17:56:24.460557+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.246","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAJC6 were changed from  to Parkinson disease 19b, early-onset, MIM#615528","entity_name":"DNAJC6","entity_type":"gene"},{"created":"2020-01-22T17:55:49.335239+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.245","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DNAJC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAJC6","entity_type":"gene"},{"created":"2020-01-22T17:54:17.249838+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.244","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DNAJC6 as Amber List (moderate evidence)","entity_name":"DNAJC6","entity_type":"gene"},{"created":"2020-01-22T17:54:17.235763+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.244","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajc6 has been classified as Amber List (Moderate Evidence).","entity_name":"DNAJC6","entity_type":"gene"},{"created":"2020-01-22T17:53:38.597423+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DNAJC6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Parkinson disease 19b, early-onset, MIM#615528; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAJC6","entity_type":"gene"},{"created":"2020-01-22T15:52:35.935363+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.924","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP89 as ready","entity_name":"CEP89","entity_type":"gene"},{"created":"2020-01-22T15:52:35.923790+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.924","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep89 has been classified as Amber List (Moderate Evidence).","entity_name":"CEP89","entity_type":"gene"},{"created":"2020-01-22T15:52:25.730076+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.924","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP89 were changed from  to Mitochondrial complex IV deficiency, MIM#220110","entity_name":"CEP89","entity_type":"gene"},{"created":"2020-01-22T15:51:30.380186+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.923","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CEP89 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP89","entity_type":"gene"},{"created":"2020-01-22T15:51:03.878396+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.922","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP89 were set to ","entity_name":"CEP89","entity_type":"gene"},{"created":"2020-01-22T15:50:47.749092+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.921","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CEP89 as Amber List (moderate evidence)","entity_name":"CEP89","entity_type":"gene"},{"created":"2020-01-22T15:50:47.736926+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.921","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep89 has been classified as Amber List (Moderate Evidence).","entity_name":"CEP89","entity_type":"gene"},{"created":"2020-01-22T15:21:18.838630+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.920","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAP4K4 as ready","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2020-01-22T15:21:18.826599+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.920","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: map4k4 has been classified as Red List (Low Evidence).","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2020-01-22T15:21:03.383199+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.920","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAP4K4 as Red List (low evidence)","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2020-01-22T15:21:03.371296+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.920","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: map4k4 has been classified as Red List (Low Evidence).","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2020-01-22T15:20:24.946456+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.919","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MAP4K4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"MAP4K4","entity_type":"gene"},{"created":"2020-01-22T15:16:30.192738+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMARCC2 as ready","entity_name":"SMARCC2","entity_type":"gene"},{"created":"2020-01-22T15:16:30.179393+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smarcc2 has been classified as Green List (High Evidence).","entity_name":"SMARCC2","entity_type":"gene"},{"created":"2020-01-22T15:16:29.325157+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMARCC2 as Green List (high evidence)","entity_name":"SMARCC2","entity_type":"gene"},{"created":"2020-01-22T15:16:29.311214+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smarcc2 has been classified as Green List (High Evidence).","entity_name":"SMARCC2","entity_type":"gene"},{"created":"2020-01-22T15:15:59.914446+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMARCC2 as Green List (high evidence)","entity_name":"SMARCC2","entity_type":"gene"},{"created":"2020-01-22T15:15:59.901898+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smarcc2 has been classified as Green List (High Evidence).","entity_name":"SMARCC2","entity_type":"gene"},{"created":"2020-01-22T15:14:42.823795+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.242","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMARCC2 was added\ngene: SMARCC2 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: SMARCC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMARCC2 were set to 30580808\nPhenotypes for gene: SMARCC2 were set to Coffin-Siris syndrome 8; OMIM #618362\nReview for gene: SMARCC2 was set to GREEN\nAdded comment: 15 individuals with variable degrees of neurodevelopmental delay, growth retardation, prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features; seizures are part of the phenotype. \nSources: Expert list","entity_name":"SMARCC2","entity_type":"gene"},{"created":"2020-01-22T13:56:14.872642+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1659","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GOT2 as ready","entity_name":"GOT2","entity_type":"gene"},{"created":"2020-01-22T13:56:14.860102+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1659","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: got2 has been classified as Green List (High Evidence).","entity_name":"GOT2","entity_type":"gene"},{"created":"2020-01-22T13:56:00.325233+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1659","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GOT2 as Green List (high evidence)","entity_name":"GOT2","entity_type":"gene"},{"created":"2020-01-22T13:56:00.313551+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1659","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: got2 has been classified as Green List (High Evidence).","entity_name":"GOT2","entity_type":"gene"},{"created":"2020-01-22T13:55:10.155613+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1658","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GOT2 was added\ngene: GOT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GOT2 were set to 31422819\nPhenotypes for gene: GOT2 were set to Epileptic encephalopathy, early infantile, 82, MIM#\t618721\nReview for gene: GOT2 was set to GREEN\nAdded comment: Four individuals from three unrelated families reported, EE/DD. Treatment with pyridoxine and serine ameliorated the phenotype. \nSources: Literature","entity_name":"GOT2","entity_type":"gene"},{"created":"2020-01-22T13:11:12.265287+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.919","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NAGA as ready","entity_name":"NAGA","entity_type":"gene"},{"created":"2020-01-22T13:11:12.251497+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.919","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: naga has been classified as Green List (High Evidence).","entity_name":"NAGA","entity_type":"gene"},{"created":"2020-01-22T13:10:45.242973+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.919","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NAGA were changed from  to Kanzaki disease (MIM # 609242); Schindler disease, type I or III (MIM# 609241)","entity_name":"NAGA","entity_type":"gene"},{"created":"2020-01-22T13:10:31.463246+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.918","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NAGA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NAGA","entity_type":"gene"},{"created":"2020-01-22T13:10:23.000690+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.917","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NAGA were set to ","entity_name":"NAGA","entity_type":"gene"},{"created":"2020-01-22T13:00:45.995777+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.916","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAB11A as ready","entity_name":"RAB11A","entity_type":"gene"},{"created":"2020-01-22T13:00:45.984223+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.916","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab11a has been classified as Amber List (Moderate Evidence).","entity_name":"RAB11A","entity_type":"gene"},{"created":"2020-01-22T13:00:05.740093+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.916","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RAB11A as Amber List (moderate evidence)","entity_name":"RAB11A","entity_type":"gene"},{"created":"2020-01-22T13:00:05.726472+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.916","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab11a has been classified as Amber List (Moderate Evidence).","entity_name":"RAB11A","entity_type":"gene"},{"created":"2020-01-22T12:59:51.882327+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.915","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RAB11A as Amber List (moderate evidence)","entity_name":"RAB11A","entity_type":"gene"},{"created":"2020-01-22T12:59:51.857360+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.915","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab11a has been classified as Amber List (Moderate Evidence).","entity_name":"RAB11A","entity_type":"gene"},{"created":"2020-01-22T12:58:55.488181+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.914","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAB11A was added\ngene: RAB11A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAB11A were set to 29100083\nPhenotypes for gene: RAB11A were set to Intellectual disability; seizures\nReview for gene: RAB11A was set to AMBER\nAdded comment: Five individuals reported with DNMs and neurodevelopmental phenotypes as part of this paper; however, clinical details are sparse. Emerging gene, phenotype not yet clearly delineated. \nSources: Literature","entity_name":"RAB11A","entity_type":"gene"},{"created":"2020-01-22T12:57:10.171464+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.913","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their review","entity_name":"RAB11B","entity_type":"gene"},{"created":"2020-01-22T12:56:54.157239+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.913","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAB11B: Rating: AMBER; Mode of pathogenicity: None; Publications: 29100083; Phenotypes: Intellectual disability, seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAB11B","entity_type":"gene"},{"created":"2020-01-22T12:56:23.153351+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1657","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAB11A as ready","entity_name":"RAB11A","entity_type":"gene"},{"created":"2020-01-22T12:56:23.141751+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1657","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab11a has been classified as Amber List (Moderate Evidence).","entity_name":"RAB11A","entity_type":"gene"},{"created":"2020-01-22T12:56:12.167217+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1657","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RAB11A as Amber List (moderate evidence)","entity_name":"RAB11A","entity_type":"gene"},{"created":"2020-01-22T12:56:12.154309+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1657","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab11a has been classified as Amber List (Moderate Evidence).","entity_name":"RAB11A","entity_type":"gene"},{"created":"2020-01-22T12:55:23.616232+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1656","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAB11A was added\ngene: RAB11A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAB11A were set to 29100083\nPhenotypes for gene: RAB11A were set to Intellectual disability; seizures\nReview for gene: RAB11A was set to AMBER\nAdded comment: Five individuals reported with DNMs and neurodevelopmental phenotypes as part of this paper; however, clinical details are sparse. Emerging gene, phenotype not yet clearly delineated. \nSources: Literature","entity_name":"RAB11A","entity_type":"gene"},{"created":"2020-01-22T12:53:32.343185+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.913","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11313741, 31468281; Phenotypes: Kanzaki disease (MIM #  609242), Schindler disease, type I or III (MIM# 609241); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NAGA","entity_type":"gene"},{"created":"2020-01-22T12:53:05.649050+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAB11A as ready","entity_name":"RAB11A","entity_type":"gene"},{"created":"2020-01-22T12:53:05.636987+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab11a has been classified as Red List (Low Evidence).","entity_name":"RAB11A","entity_type":"gene"},{"created":"2020-01-22T12:52:10.392445+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAB11A was added\ngene: RAB11A was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAB11A were set to 29100083\nPhenotypes for gene: RAB11A were set to Intellectual disability; seizures\nReview for gene: RAB11A was set to RED\nAdded comment: Five individuals reported with DNMs and neurodevelopmental phenotypes as part of this paper; however, only one had seizures. Emerging gene, phenotype not yet clearly delineated. \nSources: Literature","entity_name":"RAB11A","entity_type":"gene"},{"created":"2020-01-22T12:23:22.352137+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.913","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DHPS as ready","entity_name":"DHPS","entity_type":"gene"}]}