{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=671","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=669","results":[{"created":"2022-12-12T09:31:16.467277+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1300","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnptg has been classified as Red List (Low Evidence).","entity_name":"GNPTG","entity_type":"gene"},{"created":"2022-12-12T09:31:05.480720+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1299","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GNPTG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis III gamma, MIM# 252605; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNPTG","entity_type":"gene"},{"created":"2022-12-12T09:30:32.365302+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1299","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GLUD1.\nTag endocrine tag was added to gene: GLUD1.","entity_name":"GLUD1","entity_type":"gene"},{"created":"2022-12-12T09:30:10.597862+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1299","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLUD1 as ready","entity_name":"GLUD1","entity_type":"gene"},{"created":"2022-12-12T09:30:10.585337+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1299","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: glud1 has been classified as Green List (High Evidence).","entity_name":"GLUD1","entity_type":"gene"},{"created":"2022-12-12T09:30:06.480644+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1299","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GLUD1 were set to ","entity_name":"GLUD1","entity_type":"gene"},{"created":"2022-12-12T09:28:45.408476+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1298","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HCFC1 as ready","entity_name":"HCFC1","entity_type":"gene"},{"created":"2022-12-12T09:28:45.388581+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1298","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hcfc1 has been classified as Red List (Low Evidence).","entity_name":"HCFC1","entity_type":"gene"},{"created":"2022-12-12T09:28:38.687548+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1298","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HCFC1 were set to ","entity_name":"HCFC1","entity_type":"gene"},{"created":"2022-12-12T09:28:17.600564+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1297","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HCFC1 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"HCFC1","entity_type":"gene"},{"created":"2022-12-12T09:27:58.968737+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1296","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HCFC1 as Red List (low evidence)","entity_name":"HCFC1","entity_type":"gene"},{"created":"2022-12-12T09:27:58.955521+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1296","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hcfc1 has been classified as Red List (Low Evidence).","entity_name":"HCFC1","entity_type":"gene"},{"created":"2022-12-12T09:25:41.011828+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1295","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HNF1A as ready","entity_name":"HNF1A","entity_type":"gene"},{"created":"2022-12-12T09:25:40.996946+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1295","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hnf1a has been classified as Amber List (Moderate Evidence).","entity_name":"HNF1A","entity_type":"gene"},{"created":"2022-12-12T09:25:29.855871+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1295","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HNF1A as Amber List (moderate evidence)","entity_name":"HNF1A","entity_type":"gene"},{"created":"2022-12-12T09:25:29.843117+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1295","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hnf1a has been classified as Amber List (Moderate Evidence).","entity_name":"HNF1A","entity_type":"gene"},{"created":"2022-12-12T09:25:21.351359+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1294","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: HNF1A.\nTag endocrine tag was added to gene: HNF1A.","entity_name":"HNF1A","entity_type":"gene"},{"created":"2022-12-12T09:25:07.003265+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1294","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HNF1A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: MODY, type III , MIM#600496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HNF1A","entity_type":"gene"},{"created":"2022-12-12T09:22:41.413835+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1294","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HNF4A as ready","entity_name":"HNF4A","entity_type":"gene"},{"created":"2022-12-12T09:22:41.390914+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1294","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hnf4a has been classified as Amber List (Moderate Evidence).","entity_name":"HNF4A","entity_type":"gene"},{"created":"2022-12-12T09:22:36.198647+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1294","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HNF4A were changed from Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM#\t616026; Hypoglycaemia, hyperinsulinaemic, MIM#125850 to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM#\t616026; Hypoglycaemia, hyperinsulinaemic, MIM#125850; MODY, type I, OMIM # 125850","entity_name":"HNF4A","entity_type":"gene"},{"created":"2022-12-12T09:22:03.322795+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1293","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HNF4A as Amber List (moderate evidence)","entity_name":"HNF4A","entity_type":"gene"},{"created":"2022-12-12T09:22:03.306069+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1293","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hnf4a has been classified as Amber List (Moderate Evidence).","entity_name":"HNF4A","entity_type":"gene"},{"created":"2022-12-12T09:21:53.024596+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1292","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: HNF4A.\nTag endocrine tag was added to gene: HNF4A.","entity_name":"HNF4A","entity_type":"gene"},{"created":"2022-12-12T09:21:39.492359+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1292","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HNF4A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026, MODY, type I, OMIM # 125850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HNF4A","entity_type":"gene"},{"created":"2022-12-12T09:17:25.331434+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1292","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HOMER2 as ready","entity_name":"HOMER2","entity_type":"gene"},{"created":"2022-12-12T09:17:25.318862+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1292","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: homer2 has been classified as Red List (Low Evidence).","entity_name":"HOMER2","entity_type":"gene"},{"created":"2022-12-12T09:17:21.601262+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1292","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HOMER2 were changed from Autosomal dominant non syndromic deafness to Deafness, autosomal dominant 68, MIM# 616707","entity_name":"HOMER2","entity_type":"gene"},{"created":"2022-12-12T09:17:02.639590+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1291","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HOMER2 as Red List (low evidence)","entity_name":"HOMER2","entity_type":"gene"},{"created":"2022-12-12T09:17:02.626478+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1291","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: homer2 has been classified as Red List (Low Evidence).","entity_name":"HOMER2","entity_type":"gene"},{"created":"2022-12-12T09:16:50.740040+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1290","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HOMER2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 68, MIM# 616707; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HOMER2","entity_type":"gene"},{"created":"2022-12-12T09:15:17.249684+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1290","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPS1 as ready","entity_name":"HPS1","entity_type":"gene"},{"created":"2022-12-12T09:15:17.237499+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1290","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hps1 has been classified as Red List (Low Evidence).","entity_name":"HPS1","entity_type":"gene"},{"created":"2022-12-12T09:15:13.668371+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1290","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HPS1 were changed from Hermansky-Pudlak syndrome 1 to Hermansky-Pudlak syndrome 1, MIM# 203300","entity_name":"HPS1","entity_type":"gene"},{"created":"2022-12-12T09:15:01.772946+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1289","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HPS1 as Red List (low evidence)","entity_name":"HPS1","entity_type":"gene"},{"created":"2022-12-12T09:15:01.760485+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1289","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hps1 has been classified as Red List (Low Evidence).","entity_name":"HPS1","entity_type":"gene"},{"created":"2022-12-12T09:14:50.212187+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1288","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HPS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 1, MIM# 203300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS1","entity_type":"gene"},{"created":"2022-12-12T09:14:06.246763+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1288","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPS3 as ready","entity_name":"HPS3","entity_type":"gene"},{"created":"2022-12-12T09:14:06.220472+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1288","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hps3 has been classified as Red List (Low Evidence).","entity_name":"HPS3","entity_type":"gene"},{"created":"2022-12-12T09:13:59.482711+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1288","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HPS3 were changed from Hermansky-Pudlak syndrome 3 to Hermansky-Pudlak syndrome 3, MIM# 614072","entity_name":"HPS3","entity_type":"gene"},{"created":"2022-12-12T09:13:45.846551+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1287","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HPS3 as Red List (low evidence)","entity_name":"HPS3","entity_type":"gene"},{"created":"2022-12-12T09:13:45.833967+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1287","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hps3 has been classified as Red List (Low Evidence).","entity_name":"HPS3","entity_type":"gene"},{"created":"2022-12-12T09:13:34.175823+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1286","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HPS3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 3, MIM# 614072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS3","entity_type":"gene"},{"created":"2022-12-12T09:12:47.927917+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1286","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPS4 as ready","entity_name":"HPS4","entity_type":"gene"},{"created":"2022-12-12T09:12:47.900845+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1286","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hps4 has been classified as Red List (Low Evidence).","entity_name":"HPS4","entity_type":"gene"},{"created":"2022-12-12T09:12:40.311250+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1286","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HPS4 were changed from Hermansky-Pudlak syndrome 4 to Hermansky-Pudlak syndrome 4, MIM# 614073","entity_name":"HPS4","entity_type":"gene"},{"created":"2022-12-12T09:12:28.951831+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1285","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HPS4 as Red List (low evidence)","entity_name":"HPS4","entity_type":"gene"},{"created":"2022-12-12T09:12:28.939960+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1285","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hps4 has been classified as Red List (Low Evidence).","entity_name":"HPS4","entity_type":"gene"},{"created":"2022-12-12T09:12:17.976478+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1284","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HPS4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 4, MIM# 614073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS4","entity_type":"gene"},{"created":"2022-12-11T22:11:23.559704+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.552","user_name":"Xinyu Zhang","item_type":"entity","text":"reviewed gene: AMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 35646099, 25231368, 27362913; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AMT","entity_type":"gene"},{"created":"2022-12-11T18:18:31.785714+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1284","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPS5 as ready","entity_name":"HPS5","entity_type":"gene"},{"created":"2022-12-11T18:18:31.774331+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1284","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hps5 has been classified as Red List (Low Evidence).","entity_name":"HPS5","entity_type":"gene"},{"created":"2022-12-11T18:18:27.903402+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1284","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HPS5 were changed from Hermansky-Pudlak syndrome 5 to Hermansky-Pudlak syndrome 5 (MIM#614074)","entity_name":"HPS5","entity_type":"gene"},{"created":"2022-12-11T18:18:10.577253+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1283","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HPS5 as Red List (low evidence)","entity_name":"HPS5","entity_type":"gene"},{"created":"2022-12-11T18:18:10.565163+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1283","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hps5 has been classified as Red List (Low Evidence).","entity_name":"HPS5","entity_type":"gene"},{"created":"2022-12-11T18:17:59.953479+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1282","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HPS5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 5 (MIM#614074); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS5","entity_type":"gene"},{"created":"2022-12-11T18:15:56.982751+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1282","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGA as ready","entity_name":"PIGA","entity_type":"gene"},{"created":"2022-12-11T18:15:56.970211+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1282","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":"2022-12-11T18:15:43.729687+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1282","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIGA as Red List (low evidence)","entity_name":"PIGA","entity_type":"gene"},{"created":"2022-12-11T18:15:43.713750+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1282","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":"2022-12-11T18:15:31.989862+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1281","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIGA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PIGA","entity_type":"gene"},{"created":"2022-12-11T18:12:33.884469+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1281","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HSD17B10 as ready","entity_name":"HSD17B10","entity_type":"gene"},{"created":"2022-12-11T18:12:33.871348+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1281","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hsd17b10 has been classified as Red List (Low Evidence).","entity_name":"HSD17B10","entity_type":"gene"},{"created":"2022-12-11T18:12:29.866007+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1281","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HSD17B10 were changed from 17-beta-hydroxysteroid dehydrogenase X deficiency to HSD10 mitochondrial disease, MIM# 300438","entity_name":"HSD17B10","entity_type":"gene"},{"created":"2022-12-11T18:12:17.851003+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1280","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HSD17B10 were set to ","entity_name":"HSD17B10","entity_type":"gene"},{"created":"2022-12-11T18:12:05.880983+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1279","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HSD17B10 as Red List (low evidence)","entity_name":"HSD17B10","entity_type":"gene"},{"created":"2022-12-11T18:12:05.865610+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1279","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hsd17b10 has been classified as Red List (Low Evidence).","entity_name":"HSD17B10","entity_type":"gene"},{"created":"2022-12-11T18:11:54.286427+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1278","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HSD17B10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: HSD10 mitochondrial disease, MIM# 300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"HSD17B10","entity_type":"gene"},{"created":"2022-12-11T18:11:11.377107+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1278","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPRT1 as ready","entity_name":"HPRT1","entity_type":"gene"},{"created":"2022-12-11T18:11:11.363750+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1278","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hprt1 has been classified as Amber List (Moderate Evidence).","entity_name":"HPRT1","entity_type":"gene"},{"created":"2022-12-11T18:11:01.845704+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1278","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HPRT1 were changed from Lesch-Nyhan syndrome 1 to Lesch-Nyhan syndrome, MIM# 300322","entity_name":"HPRT1","entity_type":"gene"},{"created":"2022-12-11T18:10:41.997273+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1277","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HPRT1 were set to ","entity_name":"HPRT1","entity_type":"gene"},{"created":"2022-12-11T18:10:29.321845+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1276","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: HPRT1.","entity_name":"HPRT1","entity_type":"gene"},{"created":"2022-12-11T18:10:21.219170+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1276","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HPRT1 as Amber List (moderate evidence)","entity_name":"HPRT1","entity_type":"gene"},{"created":"2022-12-11T18:10:21.207283+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1276","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hprt1 has been classified as Amber List (Moderate Evidence).","entity_name":"HPRT1","entity_type":"gene"},{"created":"2022-12-11T18:10:05.593115+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1275","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Uncertain if these are symptomatic treatments.; to: Uncertain if these are essentially symptomatic treatments.","entity_name":"HPRT1","entity_type":"gene"},{"created":"2022-12-11T18:09:55.793428+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1275","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: HPRT1: Uncertain if these are symptomatic treatments.","entity_name":"HPRT1","entity_type":"gene"},{"created":"2022-12-11T18:08:23.757811+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1275","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Lesch-Nyhan syndrome, MIM# 300322; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"HPRT1","entity_type":"gene"},{"created":"2022-12-11T18:06:42.010612+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1275","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HGD as ready","entity_name":"HGD","entity_type":"gene"},{"created":"2022-12-11T18:06:41.992276+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1275","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hgd has been classified as Amber List (Moderate Evidence).","entity_name":"HGD","entity_type":"gene"},{"created":"2022-12-11T18:06:34.376319+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1275","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HGD were changed from Alkaptonuria to Alkaptonuria MIM#203500","entity_name":"HGD","entity_type":"gene"},{"created":"2022-12-11T18:06:20.090085+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1274","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HGD were set to ","entity_name":"HGD","entity_type":"gene"},{"created":"2022-12-11T18:05:57.165496+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1273","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HGD as Amber List (moderate evidence)","entity_name":"HGD","entity_type":"gene"},{"created":"2022-12-11T18:05:57.145812+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1273","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hgd has been classified as Amber List (Moderate Evidence).","entity_name":"HGD","entity_type":"gene"},{"created":"2022-12-11T17:53:53.773847+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1272","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PIGA: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32256299, PMID: 24706016, PMID: 25885527, PMID: 24259184; Phenotypes: hypotonia, infantile epileptic encephalopathy, facial dysmorphism; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"PIGA","entity_type":"gene"},{"created":"2022-12-11T17:25:24.747588+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1272","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: KARS: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29615062; Phenotypes: leukoencephalopathy, SNHL, neurodenegeration, cardiomyopathy, visual loss; Mode of inheritance: None","entity_name":"KARS","entity_type":"gene"},{"created":"2022-12-11T17:11:33.485848+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1272","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30143438; Phenotypes: coarse facie, corneal clouding, progressive neurodegeneration, dysostosis multiplex, hepatosplenomegaly, hernias, macrocephaly, cardiac valve involvement, SNHL, upper airways obstruction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IDUA","entity_type":"gene"},{"created":"2022-12-11T17:02:56.332522+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1272","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30143438, PMID: 33004112; Phenotypes: coarse facial features, cardiac valve involvement, hepatosplenomegaly, cardiomyopathy, airway obstruction, hydrocephalus, SNHL, dysostosis multiplex, kyphoscoliosis, progressive cognitive decline; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"IDS","entity_type":"gene"},{"created":"2022-12-11T16:49:52.634622+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1272","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: HSD3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26079780, PMID: 33757164; Phenotypes: adrenal insufficiency, hypspadias, pseudohermaphroditism in males, mild masculinization in females; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HSD3B2","entity_type":"gene"},{"created":"2022-12-11T16:43:48.440694+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1272","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: HSD17B10: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 22127393; Phenotypes: cardiomyopathy, early-onset intractable seizures, progressive choreoathetosis, spastic tetraplegia, optic atrophy, retinal degeneration, intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"HSD17B10","entity_type":"gene"},{"created":"2022-12-11T16:35:27.693634+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1272","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 18067674; Phenotypes: kidney stones, nephrocalcinosis, gout, dystonia, choreoathetosis, ballismus, cognitive impairment, self-injurious behaviour, megaloblastic anaemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"HPRT1","entity_type":"gene"},{"created":"2022-12-11T16:06:14.138294+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1272","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: HGD: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34344451, PMID: 12501223, PMID: 12501223; Phenotypes: progressive arthritis, progressive calcific cardiac valve damage, renal stones; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HGD","entity_type":"gene"},{"created":"2022-12-11T14:56:05.859439+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5124","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIF26A were changed from Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156 to Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156","entity_name":"KIF26A","entity_type":"gene"},{"created":"2022-12-11T14:55:39.883850+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5124","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIF26A were changed from Cerebral malformation MONDO:0016054, KIF26-related to Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156","entity_name":"KIF26A","entity_type":"gene"},{"created":"2022-12-11T14:55:06.225426+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5123","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KIF26A: Changed phenotypes: Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156","entity_name":"KIF26A","entity_type":"gene"},{"created":"2022-12-11T14:54:45.727136+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.552","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIF26A were changed from Cerebral malformation MONDO:0016054, KIF26-related to Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156","entity_name":"KIF26A","entity_type":"gene"},{"created":"2022-12-11T14:54:26.343463+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.551","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KIF26A: Changed phenotypes: Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156","entity_name":"KIF26A","entity_type":"gene"},{"created":"2022-12-11T14:54:10.123258+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIF26A were changed from Cerebral malformation MONDO:0016054, KIF26-related to Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156","entity_name":"KIF26A","entity_type":"gene"},{"created":"2022-12-11T14:53:35.558316+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KIF26A: Changed phenotypes: Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156","entity_name":"KIF26A","entity_type":"gene"},{"created":"2022-12-11T14:52:36.639028+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.551","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZFP36L1 were changed from  to Oocyte maturation defect 13, MIM# 620154","entity_name":"ZFP36L1","entity_type":"gene"}]}