{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=502","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=500","results":[{"created":"2023-12-27T16:23:44.868981+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2108","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pde2a has been classified as Green List (High Evidence).","entity_name":"PDE2A","entity_type":"gene"},{"created":"2023-12-27T16:23:06.139977+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2107","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PDE2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with paroxysmal dyskinesia or seizures MIM#619150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDE2A","entity_type":"gene"},{"created":"2023-12-27T16:22:12.477751+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2107","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDCD10 as ready","entity_name":"PDCD10","entity_type":"gene"},{"created":"2023-12-27T16:22:12.464890+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2107","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdcd10 has been classified as Green List (High Evidence).","entity_name":"PDCD10","entity_type":"gene"},{"created":"2023-12-27T16:22:03.736687+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2107","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDCD10 as Green List (high evidence)","entity_name":"PDCD10","entity_type":"gene"},{"created":"2023-12-27T16:22:03.722490+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2107","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdcd10 has been classified as Green List (High Evidence).","entity_name":"PDCD10","entity_type":"gene"},{"created":"2023-12-27T16:21:22.862815+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2106","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PDCD10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral cavernous malformations-3 MIM#603285; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PDCD10","entity_type":"gene"},{"created":"2023-12-27T16:19:48.995873+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2106","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: OGT: Changed rating: GREEN","entity_name":"OGT","entity_type":"gene"},{"created":"2023-12-27T16:19:29.767901+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2106","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: OGT: Changed rating: RED","entity_name":"OGT","entity_type":"gene"},{"created":"2023-12-27T16:18:17.702306+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2106","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ODC1 were set to PMID:30475435; 30239107","entity_name":"ODC1","entity_type":"gene"},{"created":"2023-12-27T16:17:19.457140+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2105","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ODC1: Changed rating: RED","entity_name":"ODC1","entity_type":"gene"},{"created":"2023-12-27T16:16:41.699065+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2105","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAK2 as ready","entity_name":"PAK2","entity_type":"gene"},{"created":"2023-12-27T16:16:41.690249+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2105","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pak2 has been classified as Red List (Low Evidence).","entity_name":"PAK2","entity_type":"gene"},{"created":"2023-12-27T16:16:30.268464+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2105","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PAK2 as Red List (low evidence)","entity_name":"PAK2","entity_type":"gene"},{"created":"2023-12-27T16:16:30.251510+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2105","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pak2 has been classified as Red List (Low Evidence).","entity_name":"PAK2","entity_type":"gene"},{"created":"2023-12-27T16:12:09.052425+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1454","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: LIMITED by ClinGen.; to: LIMITED by ClinGen; however, experimental evidence appears not to have been considered.","entity_name":"PRICKLE2","entity_type":"gene"},{"created":"2023-12-27T16:11:12.169264+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5657","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: LIMITED by ClinGen.; to: LIMITED by ClinGen; however, experimental evidence appears not to have been considered.","entity_name":"PRICKLE2","entity_type":"gene"},{"created":"2023-12-27T16:10:43.530328+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2104","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: LIMITED by ClinGen.; to: LIMITED by ClinGen, however experimental evidence appears not to have been considered.","entity_name":"PRICKLE2","entity_type":"gene"},{"created":"2023-12-27T16:09:20.517656+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5657","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRICKLE2 were changed from Neurodevelopmental disorder; global developmental delay; behavioural difficulties ± epilepsy; autistic features; attention deficit hyperactive disorder; psychiatric symptoms to Neurodevelopmental disorder MONDO:0700092, PRICKLE2-related","entity_name":"PRICKLE2","entity_type":"gene"},{"created":"2023-12-27T16:08:42.167158+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5656","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRICKLE2 were set to PMID: 34092786","entity_name":"PRICKLE2","entity_type":"gene"},{"created":"2023-12-27T16:06:26.348152+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5655","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRICKLE2 as Amber List (moderate evidence)","entity_name":"PRICKLE2","entity_type":"gene"},{"created":"2023-12-27T16:06:26.332912+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5655","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prickle2 has been classified as Amber List (Moderate Evidence).","entity_name":"PRICKLE2","entity_type":"gene"},{"created":"2023-12-27T16:04:52.971366+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5654","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRICKLE2: Rating: AMBER; Mode of pathogenicity: None; Publications: 34092786, 21276947, 26942291, 26942292; Phenotypes: Neurodevelopmental disorder MONDO:0700092, PRICKLE2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRICKLE2","entity_type":"gene"},{"created":"2023-12-27T16:04:12.868636+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1454","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRICKLE2 were changed from Neurodevelopmental disorder, MONDO:0700092; global developmental delay, behavioural difficulties ± epilepsy, autistic features, and attention deficit hyperactive disorder. to Neurodevelopmental disorder MONDO:0700092, PRICKLE2-related","entity_name":"PRICKLE2","entity_type":"gene"},{"created":"2023-12-27T16:03:46.999095+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1453","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRICKLE2 were set to 34092786","entity_name":"PRICKLE2","entity_type":"gene"},{"created":"2023-12-27T16:03:22.627486+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1452","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRICKLE2 as Amber List (moderate evidence)","entity_name":"PRICKLE2","entity_type":"gene"},{"created":"2023-12-27T16:03:22.614947+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1452","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prickle2 has been classified as Amber List (Moderate Evidence).","entity_name":"PRICKLE2","entity_type":"gene"},{"created":"2023-12-27T16:03:02.336801+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1451","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRICKLE2: Rating: AMBER; Mode of pathogenicity: None; Publications: 34092786, 21276947, 26942291, 26942292; Phenotypes: Neurodevelopmental disorder MONDO:0700092, PRICKLE2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRICKLE2","entity_type":"gene"},{"created":"2023-12-27T16:02:19.473059+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2104","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRICKLE2 were changed from Neurodevelopmental disorder; global developmental delay; behavioural difficulties ± epilepsy; autistic features; attention deficit hyperactive disorder; psychiatric symptoms to Neurodevelopmental disorder MONDO:0700092, PRICKLE2-related","entity_name":"PRICKLE2","entity_type":"gene"},{"created":"2023-12-27T16:01:24.694010+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2103","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRICKLE2 were set to 34092786","entity_name":"PRICKLE2","entity_type":"gene"},{"created":"2023-12-27T16:00:39.731339+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2102","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRICKLE2 as Amber List (moderate evidence)","entity_name":"PRICKLE2","entity_type":"gene"},{"created":"2023-12-27T16:00:39.722872+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prickle2 has been classified as Amber List (Moderate Evidence).","entity_name":"PRICKLE2","entity_type":"gene"},{"created":"2023-12-27T15:59:49.768179+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2101","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PRICKLE2: Added comment: LIMITED by ClinGen.; Changed rating: AMBER","entity_name":"PRICKLE2","entity_type":"gene"},{"created":"2023-12-27T15:56:57.807564+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: PRICKLE1.","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:56:34.220067+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRICKLE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 1B, MIM# 612437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:54:47.067036+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRICKLE1 as Red List (low evidence)","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:54:47.057260+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prickle1 has been classified as Red List (Low Evidence).","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:54:25.794029+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PRICKLE1: Added comment: LIMITED by ClinGen for AR PME.; Changed rating: RED","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:53:57.990406+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.540","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRICKLE1 as Red List (low evidence)","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:53:57.978585+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.540","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prickle1 has been classified as Red List (Low Evidence).","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:53:27.038008+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.539","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PRICKLE1: Added comment: LIMITED by ClinGen for AR PME, DISPUTED for AD epilepsy.; Changed rating: RED","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:52:40.910937+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1451","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRICKLE1 as Red List (low evidence)","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:52:40.902625+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1451","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prickle1 has been classified as Red List (Low Evidence).","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:52:20.385231+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1450","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PRICKLE1: Added comment: LIMITED by ClinGen for AR PME and DISPUTED for AD epilepsy.; Changed rating: RED","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:51:35.494433+11:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRICKLE1 as Red List (low evidence)","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:51:35.486196+11:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prickle1 has been classified as Red List (Low Evidence).","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:51:25.731340+11:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: LIMITED by ClinGen.; to: LIMITED by ClinGen for AR PME, and DISPUTED for AD epilepsy.","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:51:07.349672+11:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PRICKLE1: Added comment: LIMITED by ClinGen.; Changed rating: RED","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:50:39.525669+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2101","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRICKLE1 as Red List (low evidence)","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:50:39.512783+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prickle1 has been classified as Red List (Low Evidence).","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:49:56.923172+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2100","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PRICKLE1: Changed rating: RED","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:49:47.942288+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2100","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: LIMITED by ClinGen for PME, and DISPUTED for epilepsy.; to: LIMITED by ClinGen for  AR PME, and DISPUTED for AD epilepsy.","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:48:41.046250+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2100","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: PRICKLE1: LIMITED by ClinGen for PME, and DISPUTED for epilepsy.","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:46:40.978800+11:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRICKLE1 as ready","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:46:40.966715+11:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prickle1 has been classified as Amber List (Moderate Evidence).","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:46:37.341285+11:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRICKLE1 were set to ","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:46:24.746232+11:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRICKLE1 as Amber List (moderate evidence)","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:46:24.735017+11:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prickle1 has been classified as Amber List (Moderate Evidence).","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:46:15.624959+11:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRICKLE1: Rating: AMBER; Mode of pathogenicity: None; Publications: 18976727, 30564977; Phenotypes: Epilepsy, progressive myoclonic 1B, MIM# 612437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:44:36.460844+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRICKLE1 as Amber List (moderate evidence)","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:44:36.442635+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prickle1 has been classified as Amber List (Moderate Evidence).","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:44:15.514392+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PRICKLE1: Added comment: Note most reported variants are missense with little further supportive evidence and ClinVar variants in this gene are all VOUS/LB/B.; Changed rating: AMBER","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:43:24.308416+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.539","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRICKLE1 as ready","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:43:24.298398+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.539","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prickle1 has been classified as Amber List (Moderate Evidence).","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:43:20.171882+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.539","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRICKLE1 were changed from  to Epilepsy, progressive myoclonic 1B, MIM# 612437","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:42:50.542058+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.538","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRICKLE1 were set to ","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:42:17.923369+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.537","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PRICKLE1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:41:48.047802+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.536","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRICKLE1 as Amber List (moderate evidence)","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:41:48.034721+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.536","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prickle1 has been classified as Amber List (Moderate Evidence).","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:41:16.684089+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.535","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRICKLE1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34597683, 30564977, 30345727, 29790814, 26727662, 31035234; Phenotypes: Epilepsy, progressive myoclonic 1B, MIM# 612437; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:39:32.635088+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.514","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRICKLE1 as ready","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:39:32.617991+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.514","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prickle1 has been classified as Red List (Low Evidence).","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:39:29.782364+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.514","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRICKLE1 were changed from  to Neurodevelopmental disorder, MONDO:0700092, PRICKLE1-related","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:38:57.940533+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.513","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRICKLE1 were set to ","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:38:25.915428+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.512","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PRICKLE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:35:35.298820+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.511","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRICKLE1 as Red List (low evidence)","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:35:35.286302+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.511","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prickle1 has been classified as Red List (Low Evidence).","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:35:02.266166+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.510","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRICKLE1: Rating: RED; Mode of pathogenicity: None; Publications: 26727662; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, PRICKLE1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:32:53.562634+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1450","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRICKLE1 as Amber List (moderate evidence)","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:32:53.550877+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1450","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prickle1 has been classified as Amber List (Moderate Evidence).","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:32:27.959532+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1449","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PRICKLE1: Added comment: Note all ClinVar entries for this gene are VOUS/LB/B. The variants reported in bi-allelic cases are almost all missense without further supportive data.; Changed rating: AMBER","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:30:44.891125+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2100","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PRICKLE1: Added comment: Note ClinVar submissions for this gene are all VOUS/LB/B.; Changed rating: AMBER","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-27T15:22:40.719651+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2100","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PGM3 were changed from Idiopathic focal epilepsy to Idiopathic focal epilepsy; Immunodeficiency 23, MIM#\t615816","entity_name":"PGM3","entity_type":"gene"},{"created":"2023-12-27T15:21:06.512243+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2099","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PGM3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PGM3","entity_type":"gene"},{"created":"2023-12-27T12:01:20.951182+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.176","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERI1 were changed from Spondyloepimetaphyseal dysplasia (MONDO#0100510) to Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663","entity_name":"ERI1","entity_type":"gene"},{"created":"2023-12-27T12:01:04.801821+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.175","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ERI1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERI1","entity_type":"gene"},{"created":"2023-12-27T12:00:50.124111+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.174","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ERI1: Changed phenotypes: Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERI1","entity_type":"gene"},{"created":"2023-12-27T11:59:43.928947+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.259","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERI1 were changed from Spondyloepimetaphyseal dysplasia (MONDO#0100510), ERI1-related to Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663","entity_name":"ERI1","entity_type":"gene"},{"created":"2023-12-27T11:59:05.857145+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ERI1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERI1","entity_type":"gene"},{"created":"2023-12-27T11:58:46.027627+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERI1 were changed from Spondyloepimetaphyseal dysplasia (MONDO#0100510), ERI1-related to Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663","entity_name":"ERI1","entity_type":"gene"},{"created":"2023-12-27T11:58:09.855602+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ERI1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERI1","entity_type":"gene"},{"created":"2023-12-27T11:57:40.086592+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1449","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERI1 were changed from Spondyloepimetaphyseal dysplasia (MONDO#0100510), ERI1-related, Intellectual disability (MONDO#0001071), ERI1-related to Hoxha-Aliu syndrome, MIM# 620662; Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663","entity_name":"ERI1","entity_type":"gene"},{"created":"2023-12-27T11:57:12.592986+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1448","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ERI1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hoxha-Aliu syndrome, MIM# 620662, Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERI1","entity_type":"gene"},{"created":"2023-12-27T11:56:23.520553+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5654","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERI1 were changed from Intellectual disability (MONDO#0001071), ERI1-related to Hoxha-Aliu syndrome, MIM# 620662","entity_name":"ERI1","entity_type":"gene"},{"created":"2023-12-27T11:55:37.844427+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5653","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ERI1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hoxha-Aliu syndrome, MIM# 620662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERI1","entity_type":"gene"},{"created":"2023-12-27T11:41:04.657891+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1448","user_name":"Rylee Peters","item_type":"entity","text":"reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 35716054; Phenotypes: Congenital disorder of glycosylation, type Ih, MIM# 608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG8","entity_type":"gene"},{"created":"2023-12-27T11:38:16.164555+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5653","user_name":"Rylee Peters","item_type":"entity","text":"reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 35716054; Phenotypes: Congenital disorder of glycosylation, type Ih, MIM# 608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG8","entity_type":"gene"},{"created":"2023-12-27T11:37:27.964364+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2098","user_name":"Rylee Peters","item_type":"entity","text":"reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 35716054; Phenotypes: Congenital disorder of glycosylation, type Ih, MIM# 608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG8","entity_type":"gene"},{"created":"2023-12-22T16:41:32.100632+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2098","user_name":"Lauren Rogers","item_type":"entity","text":"gene: OCRL was added\ngene: OCRL was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: OCRL were set to 35919034\nPhenotypes for gene: OCRL were set to Lowe syndrome MIM#309000\nReview for gene: OCRL was set to RED\nAdded comment: PMID: 35919034: In a cohort of 83 Chinese individuals with Lowes syndrome or Dent-2 disease, 1/48 individuals with Lowes syndrome had epilepsy, developmental delay and intellectual disability with a maternally inherited p.R678X variant. \nSources: Literature","entity_name":"OCRL","entity_type":"gene"},{"created":"2023-12-22T14:42:00.914034+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2098","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: PANK2 as Red List (low evidence)","entity_name":"PANK2","entity_type":"gene"}]}