{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=662","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=660","results":[{"created":"2022-12-19T14:33:27.768564+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1519","user_name":"Seb Lunke","item_type":"entity","text":"Deleted their comment","entity_name":"STXBP1","entity_type":"gene"},{"created":"2022-12-19T14:33:20.893196+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1519","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: STXBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 4, MIM# 612164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"STXBP1","entity_type":"gene"},{"created":"2022-12-19T14:31:53.697521+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1519","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: STX11 as ready","entity_name":"STX11","entity_type":"gene"},{"created":"2022-12-19T14:31:53.679911+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1519","user_name":"Seb Lunke","item_type":"entity","text":"Gene: stx11 has been classified as Green List (High Evidence).","entity_name":"STX11","entity_type":"gene"},{"created":"2022-12-19T14:31:41.106170+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1519","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: STX11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STX11","entity_type":"gene"},{"created":"2022-12-19T14:28:56.892749+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1519","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: STS as ready","entity_name":"STS","entity_type":"gene"},{"created":"2022-12-19T14:28:56.877749+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1519","user_name":"Seb Lunke","item_type":"entity","text":"Gene: sts has been classified as Red List (Low Evidence).","entity_name":"STS","entity_type":"gene"},{"created":"2022-12-19T14:28:50.506393+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1519","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: STS were changed from Ichthyosis, X-linked to Ichthyosis, X-linked, MIM# 308100","entity_name":"STS","entity_type":"gene"},{"created":"2022-12-19T14:28:42.450200+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1518","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: STS as Red List (low evidence)","entity_name":"STS","entity_type":"gene"},{"created":"2022-12-19T14:28:42.437767+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1518","user_name":"Seb Lunke","item_type":"entity","text":"Gene: sts has been classified as Red List (Low Evidence).","entity_name":"STS","entity_type":"gene"},{"created":"2022-12-19T14:28:29.205883+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1517","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: STS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, X-linked, MIM# 308100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"STS","entity_type":"gene"},{"created":"2022-12-19T14:13:30.931054+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1517","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: TMC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:11850618, PMID: 26879195; Phenotypes: Deafness, autosomal recessive 7 MIM#600974; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMC1","entity_type":"gene"},{"created":"2022-12-19T14:05:31.826393+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1517","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: TMEM43: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301310, PMID: 34674311; Phenotypes: Arrhythmogenic right ventricular dysplasia 5 MIM#604400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TMEM43","entity_type":"gene"},{"created":"2022-12-19T12:05:53.228284+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1517","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: STRC as ready","entity_name":"STRC","entity_type":"gene"},{"created":"2022-12-19T12:05:53.199765+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1517","user_name":"Seb Lunke","item_type":"entity","text":"Gene: strc has been classified as Amber List (Moderate Evidence).","entity_name":"STRC","entity_type":"gene"},{"created":"2022-12-19T12:05:47.739020+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1517","user_name":"Seb Lunke","item_type":"entity","text":"Tag for review tag was added to gene: STRC.","entity_name":"STRC","entity_type":"gene"},{"created":"2022-12-19T12:05:41.453407+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1517","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: STRC were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 16, MIM# 603720","entity_name":"STRC","entity_type":"gene"},{"created":"2022-12-19T12:05:32.734226+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1516","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: STRC as Amber List (moderate evidence)","entity_name":"STRC","entity_type":"gene"},{"created":"2022-12-19T12:05:32.719584+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1516","user_name":"Seb Lunke","item_type":"entity","text":"Gene: strc has been classified as Amber List (Moderate Evidence).","entity_name":"STRC","entity_type":"gene"},{"created":"2022-12-19T12:05:16.861875+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1515","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: STRC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 16, MIM# 603720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STRC","entity_type":"gene"},{"created":"2022-12-19T12:00:25.353416+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1515","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: STRA6 as ready","entity_name":"STRA6","entity_type":"gene"},{"created":"2022-12-19T12:00:25.331269+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1515","user_name":"Seb Lunke","item_type":"entity","text":"Gene: stra6 has been classified as Red List (Low Evidence).","entity_name":"STRA6","entity_type":"gene"},{"created":"2022-12-19T12:00:18.931186+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1515","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: STRA6 were changed from Microphthalmia, syndromic to Microphthalmia, syndromic 9, MIM# 601186","entity_name":"STRA6","entity_type":"gene"},{"created":"2022-12-19T12:00:11.443021+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1514","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: STRA6 as Red List (low evidence)","entity_name":"STRA6","entity_type":"gene"},{"created":"2022-12-19T12:00:11.430693+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1514","user_name":"Seb Lunke","item_type":"entity","text":"Gene: stra6 has been classified as Red List (Low Evidence).","entity_name":"STRA6","entity_type":"gene"},{"created":"2022-12-19T11:59:58.929558+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1513","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: STRA6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microphthalmia, syndromic 9, MIM# 601186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STRA6","entity_type":"gene"},{"created":"2022-12-19T11:58:18.674130+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1513","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: STK11 as ready","entity_name":"STK11","entity_type":"gene"},{"created":"2022-12-19T11:58:18.659547+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1513","user_name":"Seb Lunke","item_type":"entity","text":"Gene: stk11 has been classified as Red List (Low Evidence).","entity_name":"STK11","entity_type":"gene"},{"created":"2022-12-19T11:58:13.072745+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1513","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: STK11 were changed from Peutz-Jeghers syndrome to Peutz-Jeghers syndrome, MIM# 175200","entity_name":"STK11","entity_type":"gene"},{"created":"2022-12-19T11:58:03.891917+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1512","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: STK11 were set to ","entity_name":"STK11","entity_type":"gene"},{"created":"2022-12-19T11:57:54.400589+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1511","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: STK11 as Red List (low evidence)","entity_name":"STK11","entity_type":"gene"},{"created":"2022-12-19T11:57:54.387578+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1511","user_name":"Seb Lunke","item_type":"entity","text":"Gene: stk11 has been classified as Red List (Low Evidence).","entity_name":"STK11","entity_type":"gene"},{"created":"2022-12-19T11:57:44.966021+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1510","user_name":"Seb Lunke","item_type":"entity","text":"Tag for review tag was added to gene: STK11.","entity_name":"STK11","entity_type":"gene"},{"created":"2022-12-19T11:57:33.335002+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1510","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: STK11: Rating: RED; Mode of pathogenicity: None; Publications: 20301443; Phenotypes: Peutz-Jeghers syndrome, MIM# 175200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"STK11","entity_type":"gene"},{"created":"2022-12-19T11:45:39.994030+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1510","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: STAT3 as ready","entity_name":"STAT3","entity_type":"gene"},{"created":"2022-12-19T11:45:39.980157+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1510","user_name":"Seb Lunke","item_type":"entity","text":"Gene: stat3 has been classified as Green List (High Evidence).","entity_name":"STAT3","entity_type":"gene"},{"created":"2022-12-19T11:45:33.320646+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1510","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: STAT3 were changed from Hyper-IgE recurrent infection syndrome to Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952","entity_name":"STAT3","entity_type":"gene"},{"created":"2022-12-19T11:45:18.004164+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1509","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"STAT3","entity_type":"gene"},{"created":"2022-12-19T11:34:01.800485+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1509","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: STAR as ready","entity_name":"STAR","entity_type":"gene"},{"created":"2022-12-19T11:34:01.786682+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1509","user_name":"Seb Lunke","item_type":"entity","text":"Gene: star has been classified as Green List (High Evidence).","entity_name":"STAR","entity_type":"gene"},{"created":"2022-12-19T11:33:57.587219+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1509","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: STAR were changed from Congenital lipoid adrenal hyperplasia, MIM#201710 to Congenital lipoid adrenal hyperplasia, MIM#201710","entity_name":"STAR","entity_type":"gene"},{"created":"2022-12-19T11:33:36.154641+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1508","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: STAR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipoid adrenal hyperplasia (MIM#201710); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STAR","entity_type":"gene"},{"created":"2022-12-19T11:29:03.074514+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1508","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: STAC3 as ready","entity_name":"STAC3","entity_type":"gene"},{"created":"2022-12-19T11:29:03.059930+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1508","user_name":"Seb Lunke","item_type":"entity","text":"Gene: stac3 has been classified as Red List (Low Evidence).","entity_name":"STAC3","entity_type":"gene"},{"created":"2022-12-19T11:28:58.966698+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1508","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: STAC3 as Red List (low evidence)","entity_name":"STAC3","entity_type":"gene"},{"created":"2022-12-19T11:28:58.951533+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1508","user_name":"Seb Lunke","item_type":"entity","text":"Gene: stac3 has been classified as Red List (Low Evidence).","entity_name":"STAC3","entity_type":"gene"},{"created":"2022-12-19T11:28:46.964060+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1507","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: STAC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, congenital, Baily-Bloch, MIM# 255995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STAC3","entity_type":"gene"},{"created":"2022-12-19T11:26:42.035706+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1507","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SRP54 as ready","entity_name":"SRP54","entity_type":"gene"},{"created":"2022-12-19T11:26:42.023083+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1507","user_name":"Seb Lunke","item_type":"entity","text":"Gene: srp54 has been classified as Green List (High Evidence).","entity_name":"SRP54","entity_type":"gene"},{"created":"2022-12-19T11:26:19.617224+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1507","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SRP54: Rating: ; Mode of pathogenicity: None; Publications: 20301722; Phenotypes: Neutropaenia, severe congenital, 8, autosomal dominant, MIM# 618752; Mode of inheritance: None","entity_name":"SRP54","entity_type":"gene"},{"created":"2022-12-19T11:21:08.296105+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1507","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SRCAP as ready","entity_name":"SRCAP","entity_type":"gene"},{"created":"2022-12-19T11:21:08.283495+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1507","user_name":"Seb Lunke","item_type":"entity","text":"Gene: srcap has been classified as Red List (Low Evidence).","entity_name":"SRCAP","entity_type":"gene"},{"created":"2022-12-19T11:21:04.385439+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1507","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SRCAP were changed from Floating-Harbor syndrome to Floating-Harbor syndrome MIM#136140; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595","entity_name":"SRCAP","entity_type":"gene"},{"created":"2022-12-19T11:20:49.914276+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1506","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SRCAP as Red List (low evidence)","entity_name":"SRCAP","entity_type":"gene"},{"created":"2022-12-19T11:20:49.901898+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1506","user_name":"Seb Lunke","item_type":"entity","text":"Gene: srcap has been classified as Red List (Low Evidence).","entity_name":"SRCAP","entity_type":"gene"},{"created":"2022-12-19T11:20:36.288276+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1505","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SRCAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Floating-Harbor syndrome MIM#136140, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SRCAP","entity_type":"gene"},{"created":"2022-12-19T11:16:35.534127+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1505","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SPTLC1 as ready","entity_name":"SPTLC1","entity_type":"gene"},{"created":"2022-12-19T11:16:35.520925+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1505","user_name":"Seb Lunke","item_type":"entity","text":"Gene: sptlc1 has been classified as Amber List (Moderate Evidence).","entity_name":"SPTLC1","entity_type":"gene"},{"created":"2022-12-19T11:15:53.737442+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1505","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SPTLC1 were changed from Neuropathy, hereditary sensory and autonomic, type IA to Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400","entity_name":"SPTLC1","entity_type":"gene"},{"created":"2022-12-19T11:15:43.891313+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1504","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SPTLC1 as Amber List (moderate evidence)","entity_name":"SPTLC1","entity_type":"gene"},{"created":"2022-12-19T11:15:43.874075+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1504","user_name":"Seb Lunke","item_type":"entity","text":"Gene: sptlc1 has been classified as Amber List (Moderate Evidence).","entity_name":"SPTLC1","entity_type":"gene"},{"created":"2022-12-19T11:15:30.568955+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1503","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SPTLC1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SPTLC1","entity_type":"gene"},{"created":"2022-12-18T18:15:55.374102+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1503","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRX as ready","entity_name":"PRX","entity_type":"gene"},{"created":"2022-12-18T18:15:55.362783+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1503","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prx has been classified as Red List (Low Evidence).","entity_name":"PRX","entity_type":"gene"},{"created":"2022-12-18T18:15:51.946460+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1503","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRX were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, type 4F, MIM# 614895; Dejerine-Sottas disease, MIM# 145900","entity_name":"PRX","entity_type":"gene"},{"created":"2022-12-18T18:15:40.129756+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1502","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRX as Red List (low evidence)","entity_name":"PRX","entity_type":"gene"},{"created":"2022-12-18T18:15:40.111656+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1502","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prx has been classified as Red List (Low Evidence).","entity_name":"PRX","entity_type":"gene"},{"created":"2022-12-18T18:14:38.573479+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1501","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4F, MIM# 614895, Dejerine-Sottas disease, MIM# 145900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRX","entity_type":"gene"},{"created":"2022-12-18T18:12:15.192180+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1501","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PSAP as ready","entity_name":"PSAP","entity_type":"gene"},{"created":"2022-12-18T18:12:15.178934+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1501","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psap has been classified as Red List (Low Evidence).","entity_name":"PSAP","entity_type":"gene"},{"created":"2022-12-18T18:12:10.744522+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1501","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PSAP were changed from Metachromatic leukodystrophy to Parkinson disease; Combined SAP deficiency, MIM# 611721; Encephalopathy due to prosaposin deficiency, MONDO:0012719; Krabbe disease, atypical, MIM# 611722; Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900; Gaucher disease, atypical, MIM# 610539","entity_name":"PSAP","entity_type":"gene"},{"created":"2022-12-18T18:10:43.042637+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1500","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PSAP was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PSAP","entity_type":"gene"},{"created":"2022-12-18T18:10:28.547880+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1499","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PSAP as Red List (low evidence)","entity_name":"PSAP","entity_type":"gene"},{"created":"2022-12-18T18:10:28.534931+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1499","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psap has been classified as Red List (Low Evidence).","entity_name":"PSAP","entity_type":"gene"},{"created":"2022-12-18T18:10:14.761152+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1498","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PSAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Parkinson disease, Combined SAP deficiency, MIM# 611721, Encephalopathy due to prosaposin deficiency, MONDO:0012719, Krabbe disease, atypical, MIM# 611722, Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900, Gaucher disease, atypical, MIM# 610539; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PSAP","entity_type":"gene"},{"created":"2022-12-17T14:36:40.635307+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1498","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: TMEM67: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20232449 PMID: 26092869, PMID: 27336129; Phenotypes: COACH syndrome MIM#216360, Joubert syndrome MIM#10688, Meckel syndrome MIM#607361, Nephronophthisis MIM#613550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM67","entity_type":"gene"},{"created":"2022-12-17T14:24:13.784494+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1498","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: TMIE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301607, PMID: 33987950; Phenotypes: Deafness, autosomal recessive 6 MIM#600971; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMIE","entity_type":"gene"},{"created":"2022-12-17T14:22:06.190652+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1498","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: TMPRSS3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34868270; Phenotypes: deafness, autosomal recessive MIM#601072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMPRSS3","entity_type":"gene"},{"created":"2022-12-16T12:17:19.093944+11:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MPI were set to PMID: 29531722; 0980531","entity_name":"MPI","entity_type":"gene"},{"created":"2022-12-16T12:16:38.935299+11:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MPI as Green List (high evidence)","entity_name":"MPI","entity_type":"gene"},{"created":"2022-12-16T12:16:38.923027+11:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpi has been classified as Green List (High Evidence).","entity_name":"MPI","entity_type":"gene"},{"created":"2022-12-16T11:59:30.604057+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1498","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTCH1 as ready","entity_name":"PTCH1","entity_type":"gene"},{"created":"2022-12-16T11:59:30.591995+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1498","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptch1 has been classified as Amber List (Moderate Evidence).","entity_name":"PTCH1","entity_type":"gene"},{"created":"2022-12-16T11:59:27.098226+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1498","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTCH1 were changed from Nevoid basal cell carcinoma syndrome to Basal cell nevus syndrome, MIM# 109400","entity_name":"PTCH1","entity_type":"gene"},{"created":"2022-12-16T11:59:12.140867+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1497","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PTCH1 as Amber List (moderate evidence)","entity_name":"PTCH1","entity_type":"gene"},{"created":"2022-12-16T11:59:12.128242+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1497","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptch1 has been classified as Amber List (Moderate Evidence).","entity_name":"PTCH1","entity_type":"gene"},{"created":"2022-12-16T11:58:24.677971+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1496","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: PTCH1.\nTag cancer tag was added to gene: PTCH1.","entity_name":"PTCH1","entity_type":"gene"},{"created":"2022-12-16T11:58:13.561911+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1496","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PTCH1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal cell nevus syndrome, MIM# 109400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PTCH1","entity_type":"gene"},{"created":"2022-12-16T11:52:39.192512+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1496","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTEN as ready","entity_name":"PTEN","entity_type":"gene"},{"created":"2022-12-16T11:52:39.181288+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1496","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pten has been classified as Red List (Low Evidence).","entity_name":"PTEN","entity_type":"gene"},{"created":"2022-12-16T11:52:35.597581+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1496","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTEN were changed from Cowden disease; Bannayan-Riley-Ruvalcaba syndrome to Cowden syndrome 1, MIM# 158350; Macrocephaly/autism syndrome, MIM# 605309","entity_name":"PTEN","entity_type":"gene"},{"created":"2022-12-16T11:52:19.898730+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1495","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PTEN as Red List (low evidence)","entity_name":"PTEN","entity_type":"gene"},{"created":"2022-12-16T11:52:19.885672+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1495","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pten has been classified as Red List (Low Evidence).","entity_name":"PTEN","entity_type":"gene"},{"created":"2022-12-16T11:52:10.974647+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1494","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: PTEN.\nTag cancer tag was added to gene: PTEN.","entity_name":"PTEN","entity_type":"gene"},{"created":"2022-12-16T11:49:59.347484+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1494","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PTEN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cowden syndrome 1, MIM# 158350, Macrocephaly/autism syndrome, MIM# 605309; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PTEN","entity_type":"gene"},{"created":"2022-12-16T11:28:05.299871+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1494","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTF1A as ready","entity_name":"PTF1A","entity_type":"gene"},{"created":"2022-12-16T11:28:05.285616+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1494","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptf1a has been classified as Green List (High Evidence).","entity_name":"PTF1A","entity_type":"gene"},{"created":"2022-12-16T11:27:59.663566+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1494","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: PTF1A.\nTag gastrointestinal tag was added to gene: PTF1A.","entity_name":"PTF1A","entity_type":"gene"},{"created":"2022-12-16T11:27:47.167051+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1494","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PTF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pancreatic agenesis 2, MIM# 615935, Pancreatic and cerebellar agenesis, MIM# 609069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PTF1A","entity_type":"gene"},{"created":"2022-12-16T11:24:13.553901+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1494","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTH1R as ready","entity_name":"PTH1R","entity_type":"gene"}]}