{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1187","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1185","results":[{"created":"2021-10-12T13:15:51.525662+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1308","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kctd3 has been classified as Green List (High Evidence).","entity_name":"KCTD3","entity_type":"gene"},{"created":"2021-10-12T13:15:50.703882+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9362","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCTD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"KCTD3","entity_type":"gene"},{"created":"2021-10-12T13:15:39.761398+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1308","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCTD3 were changed from  to Epilepsy; Intellectual disability; Posterior fossa abnormalities","entity_name":"KCTD3","entity_type":"gene"},{"created":"2021-10-12T13:15:31.052006+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9361","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KCTD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29406573; Phenotypes: Epilepsy, Intellectual disability, Posterior fossa abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KCTD3","entity_type":"gene"},{"created":"2021-10-12T13:15:07.769238+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1307","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCTD3 were set to ","entity_name":"KCTD3","entity_type":"gene"},{"created":"2021-10-12T13:14:36.256838+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1306","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCTD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"KCTD3","entity_type":"gene"},{"created":"2021-10-12T13:14:01.822365+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1305","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KCTD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29406573; Phenotypes: Epilepsy, Intellectual disability, Posterior fossa abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KCTD3","entity_type":"gene"},{"created":"2021-10-12T09:00:45.516118+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1305","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLR3B as ready","entity_name":"POLR3B","entity_type":"gene"},{"created":"2021-10-12T09:00:45.507468+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1305","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polr3b has been classified as Green List (High Evidence).","entity_name":"POLR3B","entity_type":"gene"},{"created":"2021-10-12T09:00:40.574865+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1305","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POLR3B as Green List (high evidence)","entity_name":"POLR3B","entity_type":"gene"},{"created":"2021-10-12T09:00:40.565105+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1305","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polr3b has been classified as Green List (High Evidence).","entity_name":"POLR3B","entity_type":"gene"},{"created":"2021-10-12T08:59:12.595726+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1304","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPP1CB as ready","entity_name":"PPP1CB","entity_type":"gene"},{"created":"2021-10-12T08:59:12.583027+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1304","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppp1cb has been classified as Amber List (Moderate Evidence).","entity_name":"PPP1CB","entity_type":"gene"},{"created":"2021-10-12T08:59:07.382676+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1304","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PPP1CB as Amber List (moderate evidence)","entity_name":"PPP1CB","entity_type":"gene"},{"created":"2021-10-12T08:59:07.373879+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1304","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppp1cb has been classified as Amber List (Moderate Evidence).","entity_name":"PPP1CB","entity_type":"gene"},{"created":"2021-10-12T08:57:53.576606+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9361","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GYPC as ready","entity_name":"GYPC","entity_type":"gene"},{"created":"2021-10-12T08:57:53.564772+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9361","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gypc has been classified as Red List (Low Evidence).","entity_name":"GYPC","entity_type":"gene"},{"created":"2021-10-12T08:57:46.858590+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9361","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GYPC were changed from  to [Blood group, Gerbich] MIM#616089","entity_name":"GYPC","entity_type":"gene"},{"created":"2021-10-12T08:57:21.390786+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9360","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GYPC were set to ","entity_name":"GYPC","entity_type":"gene"},{"created":"2021-10-12T08:57:10.420221+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9359","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GYPC was changed from Unknown to Other","entity_name":"GYPC","entity_type":"gene"},{"created":"2021-10-12T08:56:34.502061+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9358","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GYPC as Red List (low evidence)","entity_name":"GYPC","entity_type":"gene"},{"created":"2021-10-12T08:56:34.483486+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9358","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gypc has been classified as Red List (Low Evidence).","entity_name":"GYPC","entity_type":"gene"},{"created":"2021-10-12T08:55:47.342938+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1303","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMARCB1 were changed from Coffin-Siris syndrome and epilepsy to Coffin-Siris syndrome 3, MIM# 614608; Epilepsy","entity_name":"SMARCB1","entity_type":"gene"},{"created":"2021-10-12T08:55:13.490091+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1302","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMARCB1 as Green List (high evidence)","entity_name":"SMARCB1","entity_type":"gene"},{"created":"2021-10-12T08:55:13.480580+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1302","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smarcb1 has been classified as Green List (High Evidence).","entity_name":"SMARCB1","entity_type":"gene"},{"created":"2021-10-12T08:55:02.866603+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1301","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMARCB1 as ready","entity_name":"SMARCB1","entity_type":"gene"},{"created":"2021-10-12T08:55:02.855410+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1301","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smarcb1 has been classified as Green List (High Evidence).","entity_name":"SMARCB1","entity_type":"gene"},{"created":"2021-10-12T08:54:33.808845+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1301","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SMARCB1 were set to PMID:33006724","entity_name":"SMARCB1","entity_type":"gene"},{"created":"2021-10-12T08:54:07.900410+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1300","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMARCB1 as Green List (high evidence)","entity_name":"SMARCB1","entity_type":"gene"},{"created":"2021-10-12T08:54:07.889579+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1300","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smarcb1 has been classified as Green List (High Evidence).","entity_name":"SMARCB1","entity_type":"gene"},{"created":"2021-10-12T08:53:28.270126+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1299","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308, 23906836, 23929686; Phenotypes: Coffin-Siris syndrome 3, MIM# 614608; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SMARCB1","entity_type":"gene"},{"created":"2021-10-12T08:52:06.615152+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1299","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMARCB1 as Red List (low evidence)","entity_name":"SMARCB1","entity_type":"gene"},{"created":"2021-10-12T08:52:06.603749+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1299","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smarcb1 has been classified as Red List (Low Evidence).","entity_name":"SMARCB1","entity_type":"gene"},{"created":"2021-10-12T08:51:01.768142+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4197","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TARS2 as ready","entity_name":"TARS2","entity_type":"gene"},{"created":"2021-10-12T08:51:01.749753+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4197","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tars2 has been classified as Green List (High Evidence).","entity_name":"TARS2","entity_type":"gene"},{"created":"2021-10-12T08:50:56.723917+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4197","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TARS2 were changed from Combined oxidative phosphorylation deficiency 21 - 615918; Epilepsy; Developmental Delay to Combined oxidative phosphorylation deficiency 21, MIM# 615918; Epilepsy; Developmental Delay","entity_name":"TARS2","entity_type":"gene"},{"created":"2021-10-12T08:50:13.524769+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4196","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TARS2 as Green List (high evidence)","entity_name":"TARS2","entity_type":"gene"},{"created":"2021-10-12T08:50:13.514629+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4196","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tars2 has been classified as Green List (High Evidence).","entity_name":"TARS2","entity_type":"gene"},{"created":"2021-10-12T08:49:14.894718+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.653","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TARS2 were set to 24827421; 26811336; 33153448","entity_name":"TARS2","entity_type":"gene"},{"created":"2021-10-12T08:48:32.202382+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.652","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TARS2 as Green List (high evidence)","entity_name":"TARS2","entity_type":"gene"},{"created":"2021-10-12T08:48:32.193167+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.652","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tars2 has been classified as Green List (High Evidence).","entity_name":"TARS2","entity_type":"gene"},{"created":"2021-10-12T08:47:38.378859+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9357","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TARS2 were set to 24827421; 26811336; 33153448","entity_name":"TARS2","entity_type":"gene"},{"created":"2021-10-12T08:47:13.872603+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9356","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TARS2 as Green List (high evidence)","entity_name":"TARS2","entity_type":"gene"},{"created":"2021-10-12T08:47:13.862560+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9356","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tars2 has been classified as Green List (High Evidence).","entity_name":"TARS2","entity_type":"gene"},{"created":"2021-10-12T08:45:39.986853+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1298","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMARCA4 as ready","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2021-10-12T08:45:39.976521+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1298","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smarca4 has been classified as Red List (Low Evidence).","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2021-10-12T08:45:33.329509+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1298","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMARCA4 as Red List (low evidence)","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2021-10-12T08:45:33.319549+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1298","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smarca4 has been classified as Red List (Low Evidence).","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2021-10-11T21:11:24.997959+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.300","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC29A3 as ready","entity_name":"SLC29A3","entity_type":"gene"},{"created":"2021-10-11T21:11:24.971911+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.300","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc29a3 has been classified as Green List (High Evidence).","entity_name":"SLC29A3","entity_type":"gene"},{"created":"2021-10-11T21:11:12.417831+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.300","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC29A3 as Green List (high evidence)","entity_name":"SLC29A3","entity_type":"gene"},{"created":"2021-10-11T21:11:12.407421+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.300","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc29a3 has been classified as Green List (High Evidence).","entity_name":"SLC29A3","entity_type":"gene"},{"created":"2021-10-11T21:10:43.199390+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.299","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC29A3 was added\ngene: SLC29A3 was added to Arthrogryposis. Sources: Expert Review\nMode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC29A3 were set to 18940313; 19336477; 22238637\nPhenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome, MIM#\t602782\nReview for gene: SLC29A3 was set to GREEN\nAdded comment: Joint contractures are a feature. \nSources: Expert Review","entity_name":"SLC29A3","entity_type":"gene"},{"created":"2021-10-11T20:16:07.742629+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4195","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABHD16A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"ABHD16A","entity_type":"gene"},{"created":"2021-10-11T18:34:10.347204+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9355","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: GYPC: Rating: RED; Mode of pathogenicity: None; Publications: 29469208; Phenotypes: [Blood group, Gerbich] MIM#616089; Mode of inheritance: Other; Current diagnostic: yes","entity_name":"GYPC","entity_type":"gene"},{"created":"2021-10-11T18:11:41.003246+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1297","user_name":"Belinda Chong","item_type":"entity","text":"gene: SMARCB1 was added\ngene: SMARCB1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMARCB1 were set to PMID:33006724\nPhenotypes for gene: SMARCB1 were set to Coffin-Siris syndrome and epilepsy\nReview for gene: SMARCB1 was set to RED\nAdded comment: A single 8-year-old male with a p.Arg366Cys mutation of the SMARCB1 gene. Speech impairment and intellectual disability were reported. At the age of 6.3 years, he experienced his first generalized seizure during sleep. CBZ (16 mg/kg/day) was started and later switched to VPA (22 mg/kg/day) that could exert an additional role as a mood stabilizer, from which the hyperactive patient could benefit. Since then, he has been seizure-free. Brain MRI was normal. \nSources: Literature","entity_name":"SMARCB1","entity_type":"gene"},{"created":"2021-10-11T17:40:14.911516+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4195","user_name":"Krithika Murali","item_type":"entity","text":"gene: TARS2 was added\ngene: TARS2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TARS2 were set to 33153448; 24827421; 34508595\nPhenotypes for gene: TARS2 were set to Combined oxidative phosphorylation deficiency 21 - 615918; Epilepsy; Developmental Delay\nReview for gene: TARS2 was set to GREEN\nAdded comment: 8 cases from 7 unrelated families are reported in the literature with a heterogenous phenotype characterised by either early-onset illness within the first months, of severe hypotonia, failure to thrive, epilepsy and early death, or onset after six months with a milder course and longer survival. Other phenotypic features include developmental delay (at least 3 out of 8 cases), MRI-B abnormalities and more rarely dystonia, regression, hyperhidrosis and hearing impairment. \nSources: Literature","entity_name":"TARS2","entity_type":"gene"},{"created":"2021-10-11T17:38:23.910908+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.651","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: TARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33153448, 24827421, 34508595; Phenotypes: Combined oxidative phosphorylation deficiency 21 - 615918, Epilepsy, Developmental Delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TARS2","entity_type":"gene"},{"created":"2021-10-11T17:37:00.219476+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9355","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: TARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33153448, 24827421, 34508595; Phenotypes: Combined oxidative phosphorylation deficiency 21 - 615918, Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TARS2","entity_type":"gene"},{"created":"2021-10-11T17:25:02.543070+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1297","user_name":"Belinda Chong","item_type":"entity","text":"gene: SMARCA4 was added\ngene: SMARCA4 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMARCA4 were set to 33333793\nPhenotypes for gene: SMARCA4 were set to Refractory seizures\nReview for gene: SMARCA4 was set to RED\nAdded comment: A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: Single patient with seizure onset at 3months old (de novo variant c.3595G>A, p.Val199Met). \nSources: Literature","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2021-10-11T17:19:41.524198+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNH2 as ready","entity_name":"KCNH2","entity_type":"gene"},{"created":"2021-10-11T17:19:41.513277+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnh2 has been classified as Green List (High Evidence).","entity_name":"KCNH2","entity_type":"gene"},{"created":"2021-10-11T17:18:13.793129+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNH2 were changed from  to Short QT syndrome","entity_name":"KCNH2","entity_type":"gene"},{"created":"2021-10-11T17:17:40.439085+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNH2 were set to 34557911","entity_name":"KCNH2","entity_type":"gene"},{"created":"2021-10-11T17:16:33.171131+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNQ1 as ready","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2021-10-11T17:16:33.161801+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnq1 has been classified as Green List (High Evidence).","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2021-10-11T17:16:07.984198+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNQ1 were changed from  to Short QT syndrome 1; bradycardia; atrial fibrillation","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2021-10-11T17:15:59.753633+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1297","user_name":"Ain Roesley","item_type":"entity","text":"gene: PPP1CB was added\ngene: PPP1CB was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PPP1CB were set to 33333793; 30236064\nPhenotypes for gene: PPP1CB were set to Noonan syndrome-like disorder with loose anagen hair 2\tMIM#617506\nPenetrance for gene: PPP1CB were set to Complete\nReview for gene: PPP1CB was set to AMBER\nAdded comment: PMID:33333793\r\n1x de novo missense. Apnea, eye gazed deviation, myoclonic seizures\r\n\r\nPMID:30236064\r\n1x de novo missense. infant presented with severe intractable epileptic spasms\r\n\r\n>20 individuals reported with this syndrome \nSources: Literature","entity_name":"PPP1CB","entity_type":"gene"},{"created":"2021-10-11T17:15:30.319288+11:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRDN as ready","entity_name":"TRDN","entity_type":"gene"},{"created":"2021-10-11T17:15:30.307199+11:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trdn has been classified as Green List (High Evidence).","entity_name":"TRDN","entity_type":"gene"},{"created":"2021-10-11T17:15:26.860070+11:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRDN were changed from  to Triadin knockout syndrome; CPVT; atypical LQTS phenotype","entity_name":"TRDN","entity_type":"gene"},{"created":"2021-10-11T17:14:59.179939+11:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRDN were set to ","entity_name":"TRDN","entity_type":"gene"},{"created":"2021-10-11T17:14:22.913136+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1297","user_name":"Ain Roesley","item_type":"entity","text":"gene: POLR3B was added\ngene: POLR3B was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: POLR3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: POLR3B were set to 33417887\nPhenotypes for gene: POLR3B were set to ataxia, spasticity, and demyelinating neuropathy\nPenetrance for gene: POLR3B were set to unknown\nReview for gene: POLR3B was set to GREEN\nAdded comment: 3/6 individuals with de novo missense presented with seizures \nSources: Literature","entity_name":"POLR3B","entity_type":"gene"},{"created":"2021-10-11T17:14:00.764821+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2021-10-11T17:13:38.008260+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNJ2 as ready","entity_name":"KCNJ2","entity_type":"gene"},{"created":"2021-10-11T17:13:37.992001+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnj2 has been classified as Green List (High Evidence).","entity_name":"KCNJ2","entity_type":"gene"},{"created":"2021-10-11T17:13:32.490133+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNJ2 were changed from  to Short QT syndrome","entity_name":"KCNJ2","entity_type":"gene"},{"created":"2021-10-11T17:13:02.987410+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1297","user_name":"Ain Roesley","item_type":"entity","text":"gene: POU3F3 was added\ngene: POU3F3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: POU3F3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: POU3F3 were set to 31303265; 33645921\nPhenotypes for gene: POU3F3 were set to Snijders Blok-Fisher syndrome\tMIM#618604\nPenetrance for gene: POU3F3 were set to unknown\nReview for gene: POU3F3 was set to AMBER\nAdded comment: Seizures a rare feature. Only 3 out of 20 individuals presented with seizures. \nSources: Literature","entity_name":"POU3F3","entity_type":"gene"},{"created":"2021-10-11T17:12:32.149591+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNA2D1 as ready","entity_name":"CACNA2D1","entity_type":"gene"},{"created":"2021-10-11T17:12:32.138666+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna2d1 has been classified as Red List (Low Evidence).","entity_name":"CACNA2D1","entity_type":"gene"},{"created":"2021-10-11T17:12:20.277742+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: CACNA2D1.","entity_name":"CACNA2D1","entity_type":"gene"},{"created":"2021-10-11T17:12:03.868828+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CACNA2D1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CACNA2D1","entity_type":"gene"},{"created":"2021-10-11T17:11:34.237251+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4195","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: THG1L as ready","entity_name":"THG1L","entity_type":"gene"},{"created":"2021-10-11T17:11:34.223402+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4195","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: thg1l has been classified as Amber List (Moderate Evidence).","entity_name":"THG1L","entity_type":"gene"},{"created":"2021-10-11T17:11:22.968224+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1297","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: U2AF2 as ready","entity_name":"U2AF2","entity_type":"gene"},{"created":"2021-10-11T17:11:22.951022+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1297","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Note de novo variants in this gene were found to be enriched in the DDD study, however phenotypic information on the patients not presented.","entity_name":"U2AF2","entity_type":"gene"},{"created":"2021-10-11T17:11:22.898784+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1297","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: u2af2 has been classified as Red List (Low Evidence).","entity_name":"U2AF2","entity_type":"gene"},{"created":"2021-10-11T17:10:47.143099+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1297","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: U2AF2 as ready","entity_name":"U2AF2","entity_type":"gene"},{"created":"2021-10-11T17:10:47.132811+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1297","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: u2af2 has been classified as Red List (Low Evidence).","entity_name":"U2AF2","entity_type":"gene"},{"created":"2021-10-11T17:09:52.206926+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1297","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: U2AF2 as Red List (low evidence)","entity_name":"U2AF2","entity_type":"gene"},{"created":"2021-10-11T17:09:52.196694+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1297","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: u2af2 has been classified as Red List (Low Evidence).","entity_name":"U2AF2","entity_type":"gene"},{"created":"2021-10-11T17:08:35.813833+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9355","user_name":"Daniel Flanagan","item_type":"entity","text":"gene: SLC4A3 was added\ngene: SLC4A3 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: SLC4A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC4A3 were set to PMID: 29167417; 34557911\nPhenotypes for gene: SLC4A3 were set to Short QT syndrome\nReview for gene: SLC4A3 was set to AMBER\nAdded comment: Moderate evidence for autosomal dominant short QT syndrome 1 by ClinGen /gene curation expert panel (PMID: 34557911). A single missense variant (absent gnomAD) identified in two SQTS families. In family 1, it segregated with SQTS (QTc<370ms) in 23 carriers, and 19 non-carriers had a QTc>370ms. In family 2, it segregated in 4 individuals. Experimental evidence from in vitro and zebrafish models suggests reduced membrane localization of the mutated protein leads to intracellular alkalinization and shortening of the cardiomyocyte action potential duration.\r\nClinGen expert panel was divided between strong (4 votes) and moderate (5 votes). \nSources: Expert Review","entity_name":"SLC4A3","entity_type":"gene"},{"created":"2021-10-11T17:06:37.401235+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CACNA2D1 as Red List (low evidence)","entity_name":"CACNA2D1","entity_type":"gene"},{"created":"2021-10-11T17:06:37.390311+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna2d1 has been classified as Red List (Low Evidence).","entity_name":"CACNA2D1","entity_type":"gene"},{"created":"2021-10-11T17:06:28.058863+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1296","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RARS2 as ready","entity_name":"RARS2","entity_type":"gene"},{"created":"2021-10-11T17:06:28.044244+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1296","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rars2 has been classified as Green List (High Evidence).","entity_name":"RARS2","entity_type":"gene"},{"created":"2021-10-11T17:06:04.899914+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4195","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: THG1L as Amber List (moderate evidence)","entity_name":"THG1L","entity_type":"gene"},{"created":"2021-10-11T17:06:04.885835+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4195","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: thg1l has been classified as Amber List (Moderate Evidence).","entity_name":"THG1L","entity_type":"gene"},{"created":"2021-10-11T17:04:54.213835+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1296","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC22A5 as ready","entity_name":"SLC22A5","entity_type":"gene"},{"created":"2021-10-11T17:04:54.204620+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1296","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc22a5 has been classified as Red List (Low Evidence).","entity_name":"SLC22A5","entity_type":"gene"}]}