{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=691","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=689","results":[{"created":"2022-11-21T14:23:32.927045+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.977","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EYA4 as ready","entity_name":"EYA4","entity_type":"gene"},{"created":"2022-11-21T14:23:32.914763+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.977","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eya4 has been classified as Red List (Low Evidence).","entity_name":"EYA4","entity_type":"gene"},{"created":"2022-11-21T14:23:28.640555+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.977","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EYA4 were changed from Deafness, autosomal dominant to Deafness, autosomal dominant 10, MIM# 601316","entity_name":"EYA4","entity_type":"gene"},{"created":"2022-11-21T14:23:16.660053+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.976","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EYA4 as Red List (low evidence)","entity_name":"EYA4","entity_type":"gene"},{"created":"2022-11-21T14:23:16.646830+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.976","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eya4 has been classified as Red List (Low Evidence).","entity_name":"EYA4","entity_type":"gene"},{"created":"2022-11-21T14:23:04.927451+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.975","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EYA4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 10, MIM# 601316; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EYA4","entity_type":"gene"},{"created":"2022-11-21T14:19:41.592324+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.975","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EYA1 as ready","entity_name":"EYA1","entity_type":"gene"},{"created":"2022-11-21T14:19:41.580023+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.975","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eya1 has been classified as Red List (Low Evidence).","entity_name":"EYA1","entity_type":"gene"},{"created":"2022-11-21T14:19:37.437852+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.975","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EYA1 were changed from Branchiootorenal syndrome to Anterior segment anomalies with or without cataract MIM#602588; Branchiootic syndrome 1 MIM#602588; Branchiootorenal syndrome 1, with or without cataracts MIM#113650","entity_name":"EYA1","entity_type":"gene"},{"created":"2022-11-21T14:18:45.350620+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.974","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EYA1 as Red List (low evidence)","entity_name":"EYA1","entity_type":"gene"},{"created":"2022-11-21T14:18:45.338086+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.974","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eya1 has been classified as Red List (Low Evidence).","entity_name":"EYA1","entity_type":"gene"},{"created":"2022-11-21T14:18:32.525134+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.973","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EYA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment anomalies with or without cataract MIM#602588, Branchiootic syndrome 1 MIM#602588, Branchiootorenal syndrome 1, with or without cataracts MIM#113650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EYA1","entity_type":"gene"},{"created":"2022-11-21T14:16:20.932771+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.973","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EXT2 as ready","entity_name":"EXT2","entity_type":"gene"},{"created":"2022-11-21T14:16:20.920168+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.973","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ext2 has been classified as Red List (Low Evidence).","entity_name":"EXT2","entity_type":"gene"},{"created":"2022-11-21T14:16:17.053462+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.973","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EXT2 were changed from Exostoses, multiple, type 2 to Seizures, scoliosis, and macrocephaly syndrome, MIM#616682","entity_name":"EXT2","entity_type":"gene"},{"created":"2022-11-21T14:16:04.400500+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.972","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EXT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EXT2","entity_type":"gene"},{"created":"2022-11-21T14:15:53.228621+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.971","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EXT2 as Red List (low evidence)","entity_name":"EXT2","entity_type":"gene"},{"created":"2022-11-21T14:15:53.215414+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.971","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ext2 has been classified as Red List (Low Evidence).","entity_name":"EXT2","entity_type":"gene"},{"created":"2022-11-21T14:15:41.519628+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.970","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EXT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Seizures, scoliosis, and macrocephaly syndrome, MIM#616682; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EXT2","entity_type":"gene"},{"created":"2022-11-21T14:13:39.852121+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.970","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EXT1 as ready","entity_name":"EXT1","entity_type":"gene"},{"created":"2022-11-21T14:13:39.839234+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.970","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ext1 has been classified as Red List (Low Evidence).","entity_name":"EXT1","entity_type":"gene"},{"created":"2022-11-21T14:13:36.105852+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.970","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EXT1 were changed from Exostoses, multiple, type 1 to Exostoses, multiple, type 1, MIM# 133700","entity_name":"EXT1","entity_type":"gene"},{"created":"2022-11-21T14:13:22.635111+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.969","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EXT1 as Red List (low evidence)","entity_name":"EXT1","entity_type":"gene"},{"created":"2022-11-21T14:13:22.622041+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.969","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ext1 has been classified as Red List (Low Evidence).","entity_name":"EXT1","entity_type":"gene"},{"created":"2022-11-21T14:13:09.948299+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.968","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EXT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Exostoses, multiple, type 1, MIM# 133700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EXT1","entity_type":"gene"},{"created":"2022-11-21T14:11:29.388496+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.968","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EVC2 as ready","entity_name":"EVC2","entity_type":"gene"},{"created":"2022-11-21T14:11:29.375703+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.968","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: evc2 has been classified as Red List (Low Evidence).","entity_name":"EVC2","entity_type":"gene"},{"created":"2022-11-21T14:11:25.343201+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.968","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EVC2 were changed from Ellis-van Creveld syndrome to Ellis-van Creveld syndrome, MIM# 225500; Weyers acrofacial dysostosis, MIM# 193530","entity_name":"EVC2","entity_type":"gene"},{"created":"2022-11-21T14:11:12.836728+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.967","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EVC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EVC2","entity_type":"gene"},{"created":"2022-11-21T14:11:02.373440+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.966","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EVC2 as Red List (low evidence)","entity_name":"EVC2","entity_type":"gene"},{"created":"2022-11-21T14:11:02.354739+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.966","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: evc2 has been classified as Red List (Low Evidence).","entity_name":"EVC2","entity_type":"gene"},{"created":"2022-11-21T14:06:39.752454+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.965","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EVC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM# 225500, Weyers acrofacial dysostosis, MIM# 193530; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EVC2","entity_type":"gene"},{"created":"2022-11-21T14:05:32.923188+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.965","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EVC as ready","entity_name":"EVC","entity_type":"gene"},{"created":"2022-11-21T14:05:32.911154+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.965","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: evc has been classified as Red List (Low Evidence).","entity_name":"EVC","entity_type":"gene"},{"created":"2022-11-21T14:05:27.717984+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.965","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EVC were changed from Ellis-van Creveld syndrome to Ellis-van Creveld syndrome, MIM# 225500","entity_name":"EVC","entity_type":"gene"},{"created":"2022-11-21T14:05:14.175842+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.964","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EVC as Red List (low evidence)","entity_name":"EVC","entity_type":"gene"},{"created":"2022-11-21T14:05:14.163486+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.964","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: evc has been classified as Red List (Low Evidence).","entity_name":"EVC","entity_type":"gene"},{"created":"2022-11-21T14:03:42.046059+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.963","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EVC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM# 225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EVC","entity_type":"gene"},{"created":"2022-11-21T14:02:14.638703+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.963","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EFTUD2 as Red List (low evidence)","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2022-11-21T14:02:14.618553+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.963","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eftud2 has been classified as Red List (Low Evidence).","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2022-11-21T14:02:02.249949+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.962","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EFTUD2: Changed rating: RED","entity_name":"EFTUD2","entity_type":"gene"},{"created":"2022-11-21T14:01:04.326743+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.962","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ESRRB as ready","entity_name":"ESRRB","entity_type":"gene"},{"created":"2022-11-21T14:01:04.310173+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.962","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: esrrb has been classified as Green List (High Evidence).","entity_name":"ESRRB","entity_type":"gene"},{"created":"2022-11-21T14:01:00.592126+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.962","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ESRRB were changed from Hearing loss to Deafness, autosomal recessive 35, MIM#608565","entity_name":"ESRRB","entity_type":"gene"},{"created":"2022-11-21T14:00:44.598858+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.961","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ESRRB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 35, MIM#608565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ESRRB","entity_type":"gene"},{"created":"2022-11-21T13:58:35.748677+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.961","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ESPN as ready","entity_name":"ESPN","entity_type":"gene"},{"created":"2022-11-21T13:58:35.735550+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.961","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: espn has been classified as Green List (High Evidence).","entity_name":"ESPN","entity_type":"gene"},{"created":"2022-11-21T13:58:24.774386+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.961","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ESPN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 36, MIM# 609006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ESPN","entity_type":"gene"},{"created":"2022-11-20T18:46:57.388174+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.961","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ESCO2 as ready","entity_name":"ESCO2","entity_type":"gene"},{"created":"2022-11-20T18:46:57.370998+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.961","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: esco2 has been classified as Red List (Low Evidence).","entity_name":"ESCO2","entity_type":"gene"},{"created":"2022-11-20T18:34:47.211439+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.961","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ESCO2 were changed from Roberts syndrome to Juberg-Hayward syndrome, MIM# 216100; Roberts-SC phocomelia syndrome, MIM#268300","entity_name":"ESCO2","entity_type":"gene"},{"created":"2022-11-20T18:34:35.729559+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.960","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ESCO2 as Red List (low evidence)","entity_name":"ESCO2","entity_type":"gene"},{"created":"2022-11-20T18:34:35.716694+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.960","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: esco2 has been classified as Red List (Low Evidence).","entity_name":"ESCO2","entity_type":"gene"},{"created":"2022-11-20T18:34:23.466706+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.959","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ESCO2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Juberg-Hayward syndrome, MIM# 216100, Roberts-SC phocomelia syndrome, MIM#268300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ESCO2","entity_type":"gene"},{"created":"2022-11-20T18:31:34.053280+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.959","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC8 as ready","entity_name":"ERCC8","entity_type":"gene"},{"created":"2022-11-20T18:31:34.037557+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.959","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc8 has been classified as Red List (Low Evidence).","entity_name":"ERCC8","entity_type":"gene"},{"created":"2022-11-20T18:31:30.306121+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.959","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERCC8 were changed from Cockayne syndrome to Cockayne syndrome, type A, MIM# 216400; MONDO:0019569","entity_name":"ERCC8","entity_type":"gene"},{"created":"2022-11-20T18:31:17.699054+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.958","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ERCC8 as Red List (low evidence)","entity_name":"ERCC8","entity_type":"gene"},{"created":"2022-11-20T18:31:17.685668+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.958","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc8 has been classified as Red List (Low Evidence).","entity_name":"ERCC8","entity_type":"gene"},{"created":"2022-11-20T18:31:05.832505+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.957","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ERCC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cockayne syndrome, type A, MIM# 216400, MONDO:0019569; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC8","entity_type":"gene"},{"created":"2022-11-20T18:29:52.128902+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.957","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC6 as ready","entity_name":"ERCC6","entity_type":"gene"},{"created":"2022-11-20T18:29:52.115787+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.957","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc6 has been classified as Red List (Low Evidence).","entity_name":"ERCC6","entity_type":"gene"},{"created":"2022-11-20T18:29:43.073648+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.957","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERCC6 were changed from Cockayne syndrome to Cerebrooculofacioskeletal syndrome 1, MIM# 214150 MONDO:0008955; Cockayne syndrome, type B, MIM# 133540 MONDO:0019570; De Sanctis-Cacchione syndrome, MIM# 278800 MONDO:0010217; UV-sensitive syndrome 1, MIM# 600630 MONDO:0010909","entity_name":"ERCC6","entity_type":"gene"},{"created":"2022-11-20T18:29:28.198535+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.956","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ERCC6 as Red List (low evidence)","entity_name":"ERCC6","entity_type":"gene"},{"created":"2022-11-20T18:29:28.182657+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.956","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc6 has been classified as Red List (Low Evidence).","entity_name":"ERCC6","entity_type":"gene"},{"created":"2022-11-20T18:29:15.826951+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.955","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ERCC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 1, MIM# 214150 MONDO:0008955, Cockayne syndrome, type B, MIM# 133540 MONDO:0019570, De Sanctis-Cacchione syndrome, MIM# 278800 MONDO:0010217, UV-sensitive syndrome 1, MIM# 600630 MONDO:0010909; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC6","entity_type":"gene"},{"created":"2022-11-20T18:27:18.629009+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.955","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC5 as ready","entity_name":"ERCC5","entity_type":"gene"},{"created":"2022-11-20T18:27:18.615739+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.955","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc5 has been classified as Red List (Low Evidence).","entity_name":"ERCC5","entity_type":"gene"},{"created":"2022-11-20T18:27:06.739659+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.955","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERCC5 were changed from Xeroderma pigmentosum to Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696; Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 MONDO:0010216","entity_name":"ERCC5","entity_type":"gene"},{"created":"2022-11-20T18:26:54.315760+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.954","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ERCC5 as Red List (low evidence)","entity_name":"ERCC5","entity_type":"gene"},{"created":"2022-11-20T18:26:54.300973+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.954","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc5 has been classified as Red List (Low Evidence).","entity_name":"ERCC5","entity_type":"gene"},{"created":"2022-11-20T18:26:42.147171+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.953","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: ERCC5.","entity_name":"ERCC5","entity_type":"gene"},{"created":"2022-11-20T18:26:23.840853+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.953","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ERCC5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696, Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 MONDO:0010216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC5","entity_type":"gene"},{"created":"2022-11-20T18:17:43.391400+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.953","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC2 as ready","entity_name":"ERCC2","entity_type":"gene"},{"created":"2022-11-20T18:17:43.378048+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.953","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc2 has been classified as Amber List (Moderate Evidence).","entity_name":"ERCC2","entity_type":"gene"},{"created":"2022-11-20T18:17:39.794957+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.953","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERCC2 were changed from Xeroderma pigmentosum to Xeroderma pigmentosum, group D, MIM# 278730","entity_name":"ERCC2","entity_type":"gene"},{"created":"2022-11-20T18:17:29.151243+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.952","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ERCC2 as Amber List (moderate evidence)","entity_name":"ERCC2","entity_type":"gene"},{"created":"2022-11-20T18:17:29.134264+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.952","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc2 has been classified as Amber List (Moderate Evidence).","entity_name":"ERCC2","entity_type":"gene"},{"created":"2022-11-20T18:17:19.114647+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.951","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: ERCC2.","entity_name":"ERCC2","entity_type":"gene"},{"created":"2022-11-20T18:17:10.132058+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.951","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ERCC2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group D, MIM# 278730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC2","entity_type":"gene"},{"created":"2022-11-20T18:13:21.262871+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.951","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EPS8L2 as ready","entity_name":"EPS8L2","entity_type":"gene"},{"created":"2022-11-20T18:13:21.247972+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.951","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eps8l2 has been classified as Red List (Low Evidence).","entity_name":"EPS8L2","entity_type":"gene"},{"created":"2022-11-20T18:13:14.712707+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.951","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EPS8L2 as Red List (low evidence)","entity_name":"EPS8L2","entity_type":"gene"},{"created":"2022-11-20T18:13:14.699326+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.951","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eps8l2 has been classified as Red List (Low Evidence).","entity_name":"EPS8L2","entity_type":"gene"},{"created":"2022-11-20T18:13:03.457384+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.950","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EPS8L2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness autosomal recessive 106, MIM# 617637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EPS8L2","entity_type":"gene"},{"created":"2022-11-20T17:47:49.576012+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.950","user_name":"John Christodoulou","item_type":"entity","text":"edited their review of gene: GLB1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GLB1","entity_type":"gene"},{"created":"2022-11-20T17:47:01.406569+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.950","user_name":"John Christodoulou","item_type":"entity","text":"edited their review of gene: GLDC: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GLDC","entity_type":"gene"},{"created":"2022-11-20T17:46:50.578175+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.950","user_name":"John Christodoulou","item_type":"entity","text":"changed review comment from: causes nonketotic hyperglycaemia\r\n\r\nclassical form presents in the neonatal period and treatments (eg sodium benzoate and NDMA receptor antagonists) do not alter the neurological trajectory\r\n\r\nmilder forms of the disorder (later onset, but still in early childhood), may show response to therapy (PMID: 21411353); potentially aided by phenotype-genotype correlations (PMID: 32421718); to: causes nonketotic hyperglycaemia\r\n\r\nclassical form presents in the neonatal period and treatments (eg sodium benzoate and NDMA receptor antagonists) do not alter the neurological trajectory\r\n\r\nmilder forms of the disorder (later onset, but still in early childhood), may show response to therapy (PMID: 21411353); potentially aided by phenotype-genotype correlations (PMID: 32421718)","entity_name":"GLDC","entity_type":"gene"},{"created":"2022-11-20T17:46:18.239389+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.950","user_name":"John Christodoulou","item_type":"entity","text":"edited their review of gene: GLRA1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GLRA1","entity_type":"gene"},{"created":"2022-11-20T17:45:06.049742+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.950","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: GLUD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35752848; Phenotypes: hyperinsulinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GLUD1","entity_type":"gene"},{"created":"2022-11-20T17:39:12.680561+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.950","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32319239, PMID: 25356525; Phenotypes: hyperekplexia, stiffness, developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GLRA1","entity_type":"gene"},{"created":"2022-11-20T17:30:49.724066+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.950","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: GLDC: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 16404748, PMID: 34513771; Phenotypes: acute encephalopathy, seizures, intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GLDC","entity_type":"gene"},{"created":"2022-11-20T17:09:29.140196+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.950","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: GLB1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34539759; Phenotypes: neurodegeneration, coarse facial features, gingival hyperplasia, cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GLB1","entity_type":"gene"},{"created":"2022-11-20T17:00:27.574434+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.950","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30017653; Phenotypes: neuropathic pain, cardiomyopathy, cataract, agniokeratomata, deafness, hypohidrosis, stroke, renal failure; 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":"GLA","entity_type":"gene"},{"created":"2022-11-20T16:51:27.344508+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.950","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: GIF: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35337622; Phenotypes: pernicious anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GIF","entity_type":"gene"},{"created":"2022-11-20T16:37:57.394324+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.950","user_name":"John Christodoulou","item_type":"entity","text":"edited their review of gene: GGCX: Changed phenotypes: bleeding disorder, pseudoxanthoma elasticum, pigmentary retinopathy, congenital heart disease","entity_name":"GGCX","entity_type":"gene"},{"created":"2022-11-20T16:36:26.295555+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.950","user_name":"John Christodoulou","item_type":"entity","text":"changed review comment from: can have its onset in the newborn period and can be severe\r\n\r\ntreatable with vitamin K; to: can have its onset in the newborn period and can be severe\r\n\r\ntreatable with vitamin K","entity_name":"GGCX","entity_type":"gene"},{"created":"2022-11-20T16:33:47.704125+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.950","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: GGCX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28125048; Phenotypes: bleeding disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GGCX","entity_type":"gene"},{"created":"2022-11-18T16:50:28.321221+11:00","panel_name":"Cerebral amyloid angiopathy","panel_id":3961,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CST3 as ready","entity_name":"CST3","entity_type":"gene"},{"created":"2022-11-18T16:50:28.305910+11:00","panel_name":"Cerebral amyloid angiopathy","panel_id":3961,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cst3 has been classified as Green List (High Evidence).","entity_name":"CST3","entity_type":"gene"}]}