{"count":220363,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1472","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1470","results":[{"created":"2020-12-19T21:36:02.705328+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.284","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigt has been classified as Green List (High Evidence).","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-12-19T21:35:58.865726+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.284","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGT were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM#\t615398 to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM#\t615398, MONDO:0014165","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-12-19T21:28:00.459842+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.969","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGO as ready","entity_name":"PIGO","entity_type":"gene"},{"created":"2020-12-19T21:28:00.451768+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.969","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigo has been classified as Green List (High Evidence).","entity_name":"PIGO","entity_type":"gene"},{"created":"2020-12-19T21:26:13.759807+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.969","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGO were changed from  to Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882","entity_name":"PIGO","entity_type":"gene"},{"created":"2020-12-19T21:25:50.910074+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.968","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGO were set to ","entity_name":"PIGO","entity_type":"gene"},{"created":"2020-12-19T20:24:37.102646+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.967","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIGO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGO","entity_type":"gene"},{"created":"2020-12-19T20:23:46.378581+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.966","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIGO: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683086, 31698102, 28900819, 28545593, 28337824; Phenotypes: Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGO","entity_type":"gene"},{"created":"2020-12-19T20:22:59.749311+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3302","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGO as ready","entity_name":"PIGO","entity_type":"gene"},{"created":"2020-12-19T20:22:59.738157+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3302","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigo has been classified as Green List (High Evidence).","entity_name":"PIGO","entity_type":"gene"},{"created":"2020-12-19T20:22:54.991038+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3302","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGO were changed from  to Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882","entity_name":"PIGO","entity_type":"gene"},{"created":"2020-12-19T20:22:21.030453+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3301","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGO were set to ","entity_name":"PIGO","entity_type":"gene"},{"created":"2020-12-19T20:21:48.384158+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3300","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIGO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGO","entity_type":"gene"},{"created":"2020-12-19T20:21:14.593825+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3299","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIGO: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683086, 31698102, 28900819, 28545593, 28337824; Phenotypes: Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGO","entity_type":"gene"},{"created":"2020-12-19T20:20:29.661659+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5708","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGO as ready","entity_name":"PIGO","entity_type":"gene"},{"created":"2020-12-19T20:20:29.652947+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5708","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigo has been classified as Green List (High Evidence).","entity_name":"PIGO","entity_type":"gene"},{"created":"2020-12-19T20:20:21.308829+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5708","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGO were changed from  to Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882","entity_name":"PIGO","entity_type":"gene"},{"created":"2020-12-19T20:20:01.139963+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5707","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGO were set to ","entity_name":"PIGO","entity_type":"gene"},{"created":"2020-12-19T20:19:36.530910+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5706","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIGO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGO","entity_type":"gene"},{"created":"2020-12-19T20:19:18.986694+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5705","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIGO: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683086, 31698102, 28900819, 28545593, 28337824; Phenotypes: Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGO","entity_type":"gene"},{"created":"2020-12-19T20:18:55.303676+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.283","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGO were changed from Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749 to Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882","entity_name":"PIGO","entity_type":"gene"},{"created":"2020-12-19T20:18:21.007554+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.282","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PIGO: Changed phenotypes: Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882","entity_name":"PIGO","entity_type":"gene"},{"created":"2020-12-19T19:43:44.985580+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.282","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGO as ready","entity_name":"PIGO","entity_type":"gene"},{"created":"2020-12-19T19:43:44.974015+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.282","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigo has been classified as Green List (High Evidence).","entity_name":"PIGO","entity_type":"gene"},{"created":"2020-12-19T19:43:40.729130+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.282","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGO were changed from  to Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749","entity_name":"PIGO","entity_type":"gene"},{"created":"2020-12-19T19:43:17.807269+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.281","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGO were set to ","entity_name":"PIGO","entity_type":"gene"},{"created":"2020-12-19T19:42:50.809722+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.280","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIGO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGO","entity_type":"gene"},{"created":"2020-12-19T19:42:09.534440+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIGO: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683086, 31698102, 28900819, 28545593, 28337824; Phenotypes: Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGO","entity_type":"gene"},{"created":"2020-12-19T19:06:56.770546+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3299","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGN as ready","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T19:06:56.760333+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3299","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pign has been classified as Green List (High Evidence).","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T19:06:42.684771+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3299","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGN were changed from  to Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T19:06:11.449274+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3298","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGN were set to ","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T19:05:39.761789+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3297","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIGN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T19:05:07.056048+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3296","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21493957, 24253414, 26364997, 26394714, 33193741, 32585529, 29330547; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T19:04:12.372681+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5705","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: PIGN.\nTag founder tag was added to gene: PIGN.","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T19:03:49.787203+11:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia, Fryns-like. Intragenic deletion is a common founder variant in La Reunion island.; to: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia, Fryns-like. Intragenic deletion is a common founder variant in La Reunion island.","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T19:03:49.548850+11:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia, Fryns-like.; to: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia, Fryns-like. Intragenic deletion is a common founder variant in La Reunion island.","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T19:03:26.502072+11:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: PIGN.\nTag founder tag was added to gene: PIGN.","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T19:03:06.322774+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.966","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGN as ready","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T19:03:06.313830+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.966","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pign has been classified as Green List (High Evidence).","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T19:03:03.652570+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.966","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGN were changed from  to Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T19:02:35.934326+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.965","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGN were set to ","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T19:02:08.545935+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.964","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIGN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T19:01:39.325409+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.963","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21493957, 24253414, 26364997, 26394714, 33193741, 32585529, 29330547; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T19:01:27.131186+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGN as ready","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T19:01:27.123834+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pign has been classified as Green List (High Evidence).","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T19:00:50.777454+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5705","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGN as ready","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T19:00:50.767129+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5705","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pign has been classified as Green List (High Evidence).","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T19:00:43.264205+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5705","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGN were changed from  to Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T19:00:30.033178+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5704","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGN were set to ","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T19:00:04.721422+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5703","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIGN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T18:59:48.642348+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGN were changed from  to Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T18:59:38.081944+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5702","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21493957, 24253414, 26364997, 26394714, 33193741, 32585529, 29330547; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T18:59:17.179839+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGN were set to ","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T18:58:40.051842+11:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia.; to: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia, Fryns-like.","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T18:58:18.990367+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.277","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIGN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T18:57:50.924636+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: PIGN.\nTag founder tag was added to gene: PIGN.","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T18:57:38.749367+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21493957, 24253414, 26364997, 26394714, 33193741, 32585529, 29330547; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGN","entity_type":"gene"},{"created":"2020-12-19T18:49:05.080212+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGA as ready","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-12-19T18:49:05.066457+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: piga has been classified as Green List (High Evidence).","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-12-19T18:48:59.446235+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.231","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGA as ready","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-12-19T18:48:59.434381+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.231","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: piga has been classified as Red List (Low Evidence).","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-12-19T18:48:56.979845+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.231","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGA were changed from  to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-12-19T18:48:33.639966+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIGA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-12-19T18:48:10.598685+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIGA as Red List (low evidence)","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-12-19T18:48:10.590884+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: piga has been classified as Red List (Low Evidence).","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-12-19T18:47:40.964689+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.228","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIGA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-12-19T18:46:39.620355+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PIGA: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-12-19T18:46:31.385426+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGA as ready","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-12-19T18:46:31.375527+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: piga has been classified as Green List (High Evidence).","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-12-19T18:46:28.050056+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGA were changed from Epileptic encephalopathy, early-onset to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-12-19T18:46:15.482963+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGA were set to ","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-12-19T18:46:00.585553+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIGA as Green List (high evidence)","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-12-19T18:46:00.575027+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: piga has been classified as Green List (High Evidence).","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-12-19T18:45:48.057499+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305531, 24357517, 24706016, 26545172, 33333793, 32694024; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-12-19T18:45:14.849440+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5702","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGA as ready","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-12-19T18:45:14.839925+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5702","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: piga has been classified as Green List (High Evidence).","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-12-19T18:44:42.996395+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5702","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGA were changed from  to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-12-19T18:44:25.199967+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5701","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGA were set to ","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-12-19T18:44:06.384959+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5700","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIGA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-12-19T18:43:56.319268+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGA were changed from  to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-12-19T18:43:48.065586+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5699","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305531, 24357517, 24706016, 26545172, 33333793, 32694024; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-12-19T18:43:03.023276+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.275","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGA were set to ","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-12-19T18:42:31.050999+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.274","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIGA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-12-19T18:42:01.663291+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.273","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305531, 24357517, 24706016, 26545172, 33333793, 32694024; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-12-19T17:47:51.259931+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGL as ready","entity_name":"PIGL","entity_type":"gene"},{"created":"2020-12-19T17:47:51.252058+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigl has been classified as Green List (High Evidence).","entity_name":"PIGL","entity_type":"gene"},{"created":"2020-12-19T17:47:46.705360+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIGL as Green List (high evidence)","entity_name":"PIGL","entity_type":"gene"},{"created":"2020-12-19T17:47:46.696840+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigl has been classified as Green List (High Evidence).","entity_name":"PIGL","entity_type":"gene"},{"created":"2020-12-19T17:47:17.041961+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PIGL was added\ngene: PIGL was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert Review\nSV/CNV, founder tags were added to gene: PIGL.\nMode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGL were set to 22444671; 31535386; 30023290; 29473937; 28371479; 25706356\nPhenotypes for gene: PIGL were set to CHIME syndrome, MIM# 280000, MONDO:0010221\nReview for gene: PIGL was set to GREEN\nAdded comment: Bi-allelic variants in PIGL have been associated with a multisystem disorder clinically characterised by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME). Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties. Some individuals have hyperphosphatasia. p.Leu167Pro is a common founder variant. Also note large deletion reported more than once. More than 10 unrelated families reported. \nSources: Expert Review","entity_name":"PIGL","entity_type":"gene"},{"created":"2020-12-19T17:45:30.706120+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3296","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGL as ready","entity_name":"PIGL","entity_type":"gene"},{"created":"2020-12-19T17:45:30.694282+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3296","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigl has been classified as Green List (High Evidence).","entity_name":"PIGL","entity_type":"gene"},{"created":"2020-12-19T17:45:17.470859+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3296","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGL were changed from  to CHIME syndrome, MIM# 280000, MONDO:0010221","entity_name":"PIGL","entity_type":"gene"},{"created":"2020-12-19T17:44:35.254354+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3295","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGL were set to ","entity_name":"PIGL","entity_type":"gene"},{"created":"2020-12-19T17:44:02.073393+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3294","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: PIGL.\nTag founder tag was added to gene: PIGL.","entity_name":"PIGL","entity_type":"gene"},{"created":"2020-12-19T17:43:51.724829+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3294","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGL","entity_type":"gene"},{"created":"2020-12-19T17:43:12.996593+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3293","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444671, 31535386, 30023290, 29473937, 28371479, 25706356; Phenotypes: CHIME syndrome, MIM# 280000, MONDO:0010221; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGL","entity_type":"gene"},{"created":"2020-12-19T17:42:08.748957+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5699","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: PIGL.\nTag founder tag was added to gene: PIGL.","entity_name":"PIGL","entity_type":"gene"},{"created":"2020-12-19T17:41:53.985988+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5699","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGL as ready","entity_name":"PIGL","entity_type":"gene"},{"created":"2020-12-19T17:41:53.978448+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5699","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigl has been classified as Green List (High Evidence).","entity_name":"PIGL","entity_type":"gene"}]}