{"count":220363,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2069","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2067","results":[{"created":"2019-12-05T22:42:55.047550+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.522","user_name":"Chirag Patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from TRNT1.\nSource Expert list was added to TRNT1.\nMode of inheritance for gene TRNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRNT1 were changed from  to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; OMIM #616084\nPublications for gene TRNT1 were changed from PubMed: 25193871; 23553769; 29170023; 27389523 to PubMed: 25193871; 23553769; 29170023; 27389523","entity_name":"TRNT1","entity_type":"gene"},{"created":"2019-12-05T22:42:21.703748+11:00","panel_name":"Cerebral Palsy_VCGS","panel_id":73,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KANK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KANK1","entity_type":"gene"},{"created":"2019-12-05T22:42:02.604549+11:00","panel_name":"Cerebral Palsy_VCGS","panel_id":73,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KANK1 as Red List (low evidence)","entity_name":"KANK1","entity_type":"gene"},{"created":"2019-12-05T22:42:02.452919+11:00","panel_name":"Cerebral Palsy_VCGS","panel_id":73,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kank1 has been classified as Red List (Low Evidence).","entity_name":"KANK1","entity_type":"gene"},{"created":"2019-12-05T22:42:02.145250+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.521","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 25193871, 23553769, 29170023, 27389523; Phenotypes: Retinitis pigmentosa and erythrocytic microcytosis, OMIM #616959, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRNT1","entity_type":"gene"},{"created":"2019-12-05T22:41:33.848746+11:00","panel_name":"Cerebral Palsy_VCGS","panel_id":73,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KANK1: Rating: RED; Mode of pathogenicity: None; Publications: 29729439, 30684669, 16301218; Phenotypes: Cerebral palsy, spastic quadriplegic, 2, MIM#612900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KANK1","entity_type":"gene"},{"created":"2019-12-05T22:35:19.243924+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.521","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TTC21B as Red List (low evidence)","entity_name":"TTC21B","entity_type":"gene"},{"created":"2019-12-05T22:35:19.236475+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.521","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ttc21b has been classified as Red List (Low Evidence).","entity_name":"TTC21B","entity_type":"gene"},{"created":"2019-12-05T22:35:06.725753+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.520","user_name":"Chirag Patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from TTC21B.\nSource Expert list was added to TTC21B.\nMode of inheritance for gene TTC21B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC21B were changed from  to Nephronophthisis 12, OMIM #613820; Short-rib thoracic dysplasia 4 with or without polydactyly; OMIM #613819","entity_name":"TTC21B","entity_type":"gene"},{"created":"2019-12-05T22:34:48.427487+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.519","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 12, OMIM #613820, Short-rib thoracic dysplasia 4 with or without polydactyly, OMIM #613819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TTC21B","entity_type":"gene"},{"created":"2019-12-05T22:29:36.820456+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.519","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TTR as Red List (low evidence)","entity_name":"TTR","entity_type":"gene"},{"created":"2019-12-05T22:29:36.811461+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.519","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ttr has been classified as Red List (Low Evidence).","entity_name":"TTR","entity_type":"gene"},{"created":"2019-12-05T22:29:20.402645+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.518","user_name":"Chirag Patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from TTR.\nSource Expert list was added to TTR.\nMode of inheritance for gene TTR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TTR were changed from  to Amyloidosis, hereditary, transthyretin-related, OMIM #105210; Carpal tunnel syndrome, familial; OMIM #115430","entity_name":"TTR","entity_type":"gene"},{"created":"2019-12-05T22:28:52.034524+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.517","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: TTR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyloidosis, hereditary, transthyretin-related, OMIM #105210, Carpal tunnel syndrome, familial, OMIM #115430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TTR","entity_type":"gene"},{"created":"2019-12-05T22:27:10.643848+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.517","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TUFM as Amber List (moderate evidence)","entity_name":"TUFM","entity_type":"gene"},{"created":"2019-12-05T22:27:10.636004+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.517","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tufm has been classified as Amber List (Moderate Evidence).","entity_name":"TUFM","entity_type":"gene"},{"created":"2019-12-05T22:26:59.062094+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.516","user_name":"Chirag Patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from TUFM.\nSource Expert list was added to TUFM.\nMode of inheritance for gene TUFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TUFM were changed from  to Combined oxidative phosphorylation deficiency 4; OMIM #610678\nPublications for gene TUFM were changed from PubMed: 26741492; 17160893 to PubMed: 26741492; 17160893","entity_name":"TUFM","entity_type":"gene"},{"created":"2019-12-05T22:26:06.636672+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.515","user_name":"Chirag Patel","item_type":"entity","text":"Deleted their comment","entity_name":"TUFM","entity_type":"gene"},{"created":"2019-12-05T22:26:01.528710+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.515","user_name":"Chirag Patel","item_type":"entity","text":"edited their review of gene: TUFM: Added comment: Developmental regression seen as part of mitochondrial disorder - 3 families\r\n\r\n1 patient with rapidly progressive encephalopathy and homozygous missense mutation in the TUFM gene. No functional studies.\r\n\r\n2 families with 2 children each with COXPD4 and biallelic mutations in the TUFM gene. The mutations segregated with the disorder in the families. Complementation with wildtype TUFM restored the complex I and IV assembly and complex IV activity levels in fibroblasts from 1 of the patients.; Changed rating: AMBER","entity_name":"TUFM","entity_type":"gene"},{"created":"2019-12-05T22:24:32.809129+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.515","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 26741492, 17160893; Phenotypes: Combined oxidative phosphorylation deficiency 4, OMIM #610678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUFM","entity_type":"gene"},{"created":"2019-12-05T22:19:56.544614+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.515","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TWNK as Red List (low evidence)","entity_name":"TWNK","entity_type":"gene"},{"created":"2019-12-05T22:19:56.536948+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.515","user_name":"Chirag Patel","item_type":"entity","text":"Gene: twnk has been classified as Red List (Low Evidence).","entity_name":"TWNK","entity_type":"gene"},{"created":"2019-12-05T22:19:36.733815+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.514","user_name":"Chirag Patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from TWNK.\nSource Expert list was added to TWNK.\nMode of inheritance for gene TWNK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: TWNK were changed from  to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM #271245; Perrault syndrome 5, OMIM #616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM #609286","entity_name":"TWNK","entity_type":"gene"},{"created":"2019-12-05T22:19:07.011750+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.513","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: TWNK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM #271245, Perrault syndrome 5, OMIM #616138, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM #609286; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TWNK","entity_type":"gene"},{"created":"2019-12-05T21:50:01.955863+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.513","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KANK1 as ready","entity_name":"KANK1","entity_type":"gene"},{"created":"2019-12-05T21:50:01.947573+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.513","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kank1 has been classified as Red List (Low Evidence).","entity_name":"KANK1","entity_type":"gene"},{"created":"2019-12-05T21:49:55.607754+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.513","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KANK1 were changed from  to Cerebral palsy, spastic quadriplegic, 2, MIM#612900","entity_name":"KANK1","entity_type":"gene"},{"created":"2019-12-05T21:49:41.607871+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.512","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KANK1 were set to ","entity_name":"KANK1","entity_type":"gene"},{"created":"2019-12-05T21:49:28.463967+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.511","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KANK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KANK1","entity_type":"gene"},{"created":"2019-12-05T21:49:22.050351+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.510","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KANK1 as Red List (low evidence)","entity_name":"KANK1","entity_type":"gene"},{"created":"2019-12-05T21:49:22.042901+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.510","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kank1 has been classified as Red List (Low Evidence).","entity_name":"KANK1","entity_type":"gene"},{"created":"2019-12-05T21:49:08.442896+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.509","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KANK1: Rating: RED; Mode of pathogenicity: None; Publications: 16301218, 30684669; Phenotypes: Cerebral palsy, spastic quadriplegic, 2, MIM#612900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KANK1","entity_type":"gene"},{"created":"2019-12-05T21:44:06.159704+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.509","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACTA1 as ready","entity_name":"ACTA1","entity_type":"gene"},{"created":"2019-12-05T21:44:06.152184+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.509","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acta1 has been classified as Red List (Low Evidence).","entity_name":"ACTA1","entity_type":"gene"},{"created":"2019-12-05T21:43:59.498066+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.509","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACTA1 were changed from  to Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800; Nemaline myopathy 3, MIM#161800; Myopathy, actin, congenital, with cores, MIM#161800","entity_name":"ACTA1","entity_type":"gene"},{"created":"2019-12-05T21:43:46.819379+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.508","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACTA1 were set to ","entity_name":"ACTA1","entity_type":"gene"},{"created":"2019-12-05T21:43:33.514787+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.507","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACTA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ACTA1","entity_type":"gene"},{"created":"2019-12-05T21:43:26.060867+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.506","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACTA1 as Red List (low evidence)","entity_name":"ACTA1","entity_type":"gene"},{"created":"2019-12-05T21:43:26.051727+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.506","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acta1 has been classified as Red List (Low Evidence).","entity_name":"ACTA1","entity_type":"gene"},{"created":"2019-12-05T20:48:44.372091+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.505","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCG5 as ready","entity_name":"ABCG5","entity_type":"gene"},{"created":"2019-12-05T20:48:44.364907+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.505","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcg5 has been classified as Red List (Low Evidence).","entity_name":"ABCG5","entity_type":"gene"},{"created":"2019-12-05T20:48:40.287850+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.505","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABCG5 were changed from  to Sitosterolemia 2, MIM#618666","entity_name":"ABCG5","entity_type":"gene"},{"created":"2019-12-05T20:48:34.115527+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.504","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ABCG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABCG5","entity_type":"gene"},{"created":"2019-12-05T20:48:15.989036+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.503","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ABCG5 as Red List (low evidence)","entity_name":"ABCG5","entity_type":"gene"},{"created":"2019-12-05T20:48:15.979490+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.503","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcg5 has been classified as Red List (Low Evidence).","entity_name":"ABCG5","entity_type":"gene"},{"created":"2019-12-05T20:46:10.279645+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.502","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: JAG1 as ready","entity_name":"JAG1","entity_type":"gene"},{"created":"2019-12-05T20:46:10.272117+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.502","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jag1 has been classified as Red List (Low Evidence).","entity_name":"JAG1","entity_type":"gene"},{"created":"2019-12-05T20:46:06.477767+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.502","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: JAG1 were changed from  to Alagille syndrome 1, MIM#118450","entity_name":"JAG1","entity_type":"gene"},{"created":"2019-12-05T20:45:56.293943+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.501","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: JAG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"JAG1","entity_type":"gene"},{"created":"2019-12-05T20:45:43.492016+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.500","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: JAG1 as Red List (low evidence)","entity_name":"JAG1","entity_type":"gene"},{"created":"2019-12-05T20:45:43.485020+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.500","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jag1 has been classified as Red List (Low Evidence).","entity_name":"JAG1","entity_type":"gene"},{"created":"2019-12-05T20:45:31.681520+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.499","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: JAG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alagille syndrome 1, MIM#118450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"JAG1","entity_type":"gene"},{"created":"2019-12-05T20:44:26.119214+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.499","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IYD as ready","entity_name":"IYD","entity_type":"gene"},{"created":"2019-12-05T20:44:26.111982+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.499","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: iyd has been classified as Red List (Low Evidence).","entity_name":"IYD","entity_type":"gene"},{"created":"2019-12-05T20:44:20.304725+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.499","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IYD were changed from  to Thyroid dyshormonogenesis 4, MIM#274800","entity_name":"IYD","entity_type":"gene"},{"created":"2019-12-05T20:44:08.406903+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.498","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IYD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IYD","entity_type":"gene"},{"created":"2019-12-05T20:43:58.629675+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.497","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IYD as Red List (low evidence)","entity_name":"IYD","entity_type":"gene"},{"created":"2019-12-05T20:43:58.621717+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.497","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: iyd has been classified as Red List (Low Evidence).","entity_name":"IYD","entity_type":"gene"},{"created":"2019-12-05T20:43:44.119629+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.496","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IYD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 4, MIM#274800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IYD","entity_type":"gene"},{"created":"2019-12-05T20:41:09.736508+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.496","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITCH as ready","entity_name":"ITCH","entity_type":"gene"},{"created":"2019-12-05T20:41:09.729385+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.496","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itch has been classified as Amber List (Moderate Evidence).","entity_name":"ITCH","entity_type":"gene"},{"created":"2019-12-05T20:41:04.823618+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.496","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ITCH were changed from  to Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385","entity_name":"ITCH","entity_type":"gene"},{"created":"2019-12-05T20:40:47.708582+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.495","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ITCH were set to ","entity_name":"ITCH","entity_type":"gene"},{"created":"2019-12-05T20:40:33.427061+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.494","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ITCH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ITCH","entity_type":"gene"},{"created":"2019-12-05T20:40:21.867672+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.493","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ITCH as Amber List (moderate evidence)","entity_name":"ITCH","entity_type":"gene"},{"created":"2019-12-05T20:40:21.860289+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.493","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itch has been classified as Amber List (Moderate Evidence).","entity_name":"ITCH","entity_type":"gene"},{"created":"2019-12-05T20:40:09.197741+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.492","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ITCH: Rating: AMBER; Mode of pathogenicity: None; Publications: 20170897; Phenotypes: Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ITCH","entity_type":"gene"},{"created":"2019-12-05T20:36:41.039883+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.492","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IREB2 as ready","entity_name":"IREB2","entity_type":"gene"},{"created":"2019-12-05T20:36:41.032506+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.492","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ireb2 has been classified as Green List (High Evidence).","entity_name":"IREB2","entity_type":"gene"},{"created":"2019-12-05T20:36:32.395887+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.492","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IREB2 as Green List (high evidence)","entity_name":"IREB2","entity_type":"gene"},{"created":"2019-12-05T20:36:32.388699+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.492","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ireb2 has been classified as Green List (High Evidence).","entity_name":"IREB2","entity_type":"gene"},{"created":"2019-12-05T20:36:18.203347+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.491","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IREB2 was added\ngene: IREB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Literature\nMode of inheritance for gene: IREB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IREB2 were set to 30915432; 31243445; 11175792\nPhenotypes for gene: IREB2 were set to Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451\nReview for gene: IREB2 was set to GREEN\nAdded comment: Two affected individuals from unrelated families with functional evidence including concordant phenotype in mice. \nSources: Literature","entity_name":"IREB2","entity_type":"gene"},{"created":"2019-12-05T20:30:29.082441+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.490","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INS as ready","entity_name":"INS","entity_type":"gene"},{"created":"2019-12-05T20:30:29.075094+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.490","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ins has been classified as Red List (Low Evidence).","entity_name":"INS","entity_type":"gene"},{"created":"2019-12-05T20:30:24.506631+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.490","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INS were changed from  to Diabetes mellitus, permanent neonatal, MIM#606176","entity_name":"INS","entity_type":"gene"},{"created":"2019-12-05T20:30:08.450872+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.489","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: INS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"INS","entity_type":"gene"},{"created":"2019-12-05T20:29:56.649266+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.488","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: INS as Red List (low evidence)","entity_name":"INS","entity_type":"gene"},{"created":"2019-12-05T20:29:56.641370+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.488","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ins has been classified as Red List (Low Evidence).","entity_name":"INS","entity_type":"gene"},{"created":"2019-12-05T20:29:43.187982+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.487","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: INS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, permanent neonatal, MIM#606176; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"INS","entity_type":"gene"},{"created":"2019-12-05T20:24:47.202871+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.487","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IMPA1 as ready","entity_name":"IMPA1","entity_type":"gene"},{"created":"2019-12-05T20:24:47.195475+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.487","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: impa1 has been classified as Amber List (Moderate Evidence).","entity_name":"IMPA1","entity_type":"gene"},{"created":"2019-12-05T20:24:41.938691+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.487","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IMPA1 were changed from  to Mental retardation, autosomal recessive 59, MIM#617323","entity_name":"IMPA1","entity_type":"gene"},{"created":"2019-12-05T20:24:25.889226+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.486","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IMPA1 were set to ","entity_name":"IMPA1","entity_type":"gene"},{"created":"2019-12-05T20:24:11.798321+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.485","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IMPA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IMPA1","entity_type":"gene"},{"created":"2019-12-05T20:24:00.917694+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.484","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IMPA1 as Amber List (moderate evidence)","entity_name":"IMPA1","entity_type":"gene"},{"created":"2019-12-05T20:24:00.909546+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.484","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: impa1 has been classified as Amber List (Moderate Evidence).","entity_name":"IMPA1","entity_type":"gene"},{"created":"2019-12-05T20:23:47.767568+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.483","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IMPA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26416544, 30616629; Phenotypes: Mental retardation, autosomal recessive 59, MIM#617323; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IMPA1","entity_type":"gene"},{"created":"2019-12-05T20:20:03.634791+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.483","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IMMP2L as ready","entity_name":"IMMP2L","entity_type":"gene"},{"created":"2019-12-05T20:20:03.627391+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.483","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: immp2l has been classified as Red List (Low Evidence).","entity_name":"IMMP2L","entity_type":"gene"},{"created":"2019-12-05T20:19:57.760209+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.483","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IMMP2L were changed from  to Autism","entity_name":"IMMP2L","entity_type":"gene"},{"created":"2019-12-05T20:19:45.873606+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.482","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IMMP2L were set to ","entity_name":"IMMP2L","entity_type":"gene"},{"created":"2019-12-05T20:19:33.392921+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.481","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IMMP2L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"IMMP2L","entity_type":"gene"},{"created":"2019-12-05T20:19:22.161289+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.480","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IMMP2L as Red List (low evidence)","entity_name":"IMMP2L","entity_type":"gene"},{"created":"2019-12-05T20:19:22.153837+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.480","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: immp2l has been classified as Red List (Low Evidence).","entity_name":"IMMP2L","entity_type":"gene"},{"created":"2019-12-05T20:19:10.733664+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.479","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IMMP2L: Rating: RED; Mode of pathogenicity: None; Publications: 29788020, 29152845; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"IMMP2L","entity_type":"gene"},{"created":"2019-12-05T19:53:44.336000+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.479","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFT27 as ready","entity_name":"IFT27","entity_type":"gene"},{"created":"2019-12-05T19:53:44.327959+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.479","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift27 has been classified as Green List (High Evidence).","entity_name":"IFT27","entity_type":"gene"},{"created":"2019-12-05T19:00:33.329592+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IGF2 as ready","entity_name":"IGF2","entity_type":"gene"},{"created":"2019-12-05T19:00:33.322086+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: igf2 has been classified as Green List (High Evidence).","entity_name":"IGF2","entity_type":"gene"},{"created":"2019-12-05T19:00:25.108726+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IGF2 were changed from  to Growth restriction, severe, with distinctive facies, MIM#616489","entity_name":"IGF2","entity_type":"gene"}]}