{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=704","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=702","results":[{"created":"2022-11-03T07:09:58.851947+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.760","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX3 as Red List (low evidence)","entity_name":"PEX3","entity_type":"gene"},{"created":"2022-11-03T07:09:58.843352+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.760","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex3 has been classified as Red List (Low Evidence).","entity_name":"PEX3","entity_type":"gene"},{"created":"2022-11-03T07:09:25.598688+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.759","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX26 as ready","entity_name":"PEX26","entity_type":"gene"},{"created":"2022-11-03T07:09:25.583659+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.759","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex26 has been classified as Red List (Low Evidence).","entity_name":"PEX26","entity_type":"gene"},{"created":"2022-11-03T07:09:19.535837+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.759","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX26 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872","entity_name":"PEX26","entity_type":"gene"},{"created":"2022-11-03T07:09:09.956221+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.758","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX26 as Red List (low evidence)","entity_name":"PEX26","entity_type":"gene"},{"created":"2022-11-03T07:09:09.944325+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.758","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex26 has been classified as Red List (Low Evidence).","entity_name":"PEX26","entity_type":"gene"},{"created":"2022-11-03T07:08:15.847415+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.757","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX2 as ready","entity_name":"PEX2","entity_type":"gene"},{"created":"2022-11-03T07:08:15.833696+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.757","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex2 has been classified as Red List (Low Evidence).","entity_name":"PEX2","entity_type":"gene"},{"created":"2022-11-03T07:08:11.915633+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.757","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX2 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866","entity_name":"PEX2","entity_type":"gene"},{"created":"2022-11-03T07:08:02.493095+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.756","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX2 as Red List (low evidence)","entity_name":"PEX2","entity_type":"gene"},{"created":"2022-11-03T07:08:02.481444+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.756","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex2 has been classified as Red List (Low Evidence).","entity_name":"PEX2","entity_type":"gene"},{"created":"2022-11-03T07:07:24.218408+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.755","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX13 as ready","entity_name":"PEX13","entity_type":"gene"},{"created":"2022-11-03T07:07:24.209525+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.755","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex13 has been classified as Red List (Low Evidence).","entity_name":"PEX13","entity_type":"gene"},{"created":"2022-11-03T07:07:20.164027+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.755","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX13 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883)","entity_name":"PEX13","entity_type":"gene"},{"created":"2022-11-03T07:06:57.027415+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.754","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX13 as Red List (low evidence)","entity_name":"PEX13","entity_type":"gene"},{"created":"2022-11-03T07:06:57.016802+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.754","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex13 has been classified as Red List (Low Evidence).","entity_name":"PEX13","entity_type":"gene"},{"created":"2022-11-03T07:06:22.075498+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.753","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX12 as ready","entity_name":"PEX12","entity_type":"gene"},{"created":"2022-11-03T07:06:22.066303+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.753","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex12 has been classified as Red List (Low Evidence).","entity_name":"PEX12","entity_type":"gene"},{"created":"2022-11-03T07:05:41.163328+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.753","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX12 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 3A (Zellweger) (MIM#614859)","entity_name":"PEX12","entity_type":"gene"},{"created":"2022-11-03T07:05:31.651125+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.752","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX12 as Red List (low evidence)","entity_name":"PEX12","entity_type":"gene"},{"created":"2022-11-03T07:05:31.633240+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.752","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex12 has been classified as Red List (Low Evidence).","entity_name":"PEX12","entity_type":"gene"},{"created":"2022-11-03T07:04:19.882051+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.751","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX10 as ready","entity_name":"PEX10","entity_type":"gene"},{"created":"2022-11-03T07:04:19.873725+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.751","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex10 has been classified as Red List (Low Evidence).","entity_name":"PEX10","entity_type":"gene"},{"created":"2022-11-03T07:04:16.222272+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.751","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX10 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 6A (Zellweger) (MIM#614870)","entity_name":"PEX10","entity_type":"gene"},{"created":"2022-11-03T07:04:05.357060+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.750","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX10 as Red List (low evidence)","entity_name":"PEX10","entity_type":"gene"},{"created":"2022-11-03T07:04:05.348781+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.750","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex10 has been classified as Red List (Low Evidence).","entity_name":"PEX10","entity_type":"gene"},{"created":"2022-11-03T06:58:35.031234+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.749","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: CYP27A1.","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2022-11-03T06:57:51.097517+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.749","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: PCBD1.","entity_name":"PCBD1","entity_type":"gene"},{"created":"2022-11-02T20:09:33.694788+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.749","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: UROD.","entity_name":"UROD","entity_type":"gene"},{"created":"2022-11-02T20:08:58.188716+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.165","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNPTAB as ready","entity_name":"GNPTAB","entity_type":"gene"},{"created":"2022-11-02T20:08:58.177338+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.165","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnptab has been classified as Green List (High Evidence).","entity_name":"GNPTAB","entity_type":"gene"},{"created":"2022-11-02T20:08:52.244835+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.165","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GNPTAB as Green List (high evidence)","entity_name":"GNPTAB","entity_type":"gene"},{"created":"2022-11-02T20:08:52.233801+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.165","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnptab has been classified as Green List (High Evidence).","entity_name":"GNPTAB","entity_type":"gene"},{"created":"2022-11-02T20:07:51.996205+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNPNAT1 as ready","entity_name":"GNPNAT1","entity_type":"gene"},{"created":"2022-11-02T20:07:51.987167+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnpnat1 has been classified as Amber List (Moderate Evidence).","entity_name":"GNPNAT1","entity_type":"gene"},{"created":"2022-11-02T19:10:58.186680+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GNPNAT1 as Amber List (moderate evidence)","entity_name":"GNPNAT1","entity_type":"gene"},{"created":"2022-11-02T19:10:58.178222+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnpnat1 has been classified as Amber List (Moderate Evidence).","entity_name":"GNPNAT1","entity_type":"gene"},{"created":"2022-11-02T19:10:00.488127+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.749","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAX6 as ready","entity_name":"PAX6","entity_type":"gene"},{"created":"2022-11-02T19:10:00.478388+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.749","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pax6 has been classified as Red List (Low Evidence).","entity_name":"PAX6","entity_type":"gene"},{"created":"2022-11-02T19:09:55.282447+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.749","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAX6 were changed from Aniridia to Aniridia, OMIM 106210","entity_name":"PAX6","entity_type":"gene"},{"created":"2022-11-02T19:09:44.193408+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.748","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PAX6 as Red List (low evidence)","entity_name":"PAX6","entity_type":"gene"},{"created":"2022-11-02T19:09:44.184143+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.748","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pax6 has been classified as Red List (Low Evidence).","entity_name":"PAX6","entity_type":"gene"},{"created":"2022-11-02T19:09:32.435474+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.747","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"PAX6","entity_type":"gene"},{"created":"2022-11-02T19:09:16.157060+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.747","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: PAX6.","entity_name":"PAX6","entity_type":"gene"},{"created":"2022-11-02T19:08:40.617061+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.747","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAX3 as ready","entity_name":"PAX3","entity_type":"gene"},{"created":"2022-11-02T19:08:40.606823+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.747","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pax3 has been classified as Green List (High Evidence).","entity_name":"PAX3","entity_type":"gene"},{"created":"2022-11-02T19:08:37.132417+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.747","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAX3 were changed from Waardenburg syndrome to Waardenburg syndrome, type 1, OMIM 193500","entity_name":"PAX3","entity_type":"gene"},{"created":"2022-11-02T19:08:01.941443+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.746","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PANK2 as ready","entity_name":"PANK2","entity_type":"gene"},{"created":"2022-11-02T19:08:01.932457+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.746","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pank2 has been classified as Red List (Low Evidence).","entity_name":"PANK2","entity_type":"gene"},{"created":"2022-11-02T19:07:58.372700+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.746","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PANK2 were changed from Neurodegeneration with brain iron accumulation 1 to Neurodegeneration with brain iron accumulation 1 (aka Hallervorden-Spatz disease), OMIM 234200","entity_name":"PANK2","entity_type":"gene"},{"created":"2022-11-02T19:07:45.567938+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.745","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PANK2 as Red List (low evidence)","entity_name":"PANK2","entity_type":"gene"},{"created":"2022-11-02T19:07:45.559508+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.745","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pank2 has been classified as Red List (Low Evidence).","entity_name":"PANK2","entity_type":"gene"},{"created":"2022-11-02T19:07:02.339533+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.744","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: PALB2.","entity_name":"PALB2","entity_type":"gene"},{"created":"2022-11-02T19:06:33.254204+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.744","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAK3 as ready","entity_name":"PAK3","entity_type":"gene"},{"created":"2022-11-02T19:06:33.245777+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.744","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pak3 has been classified as Red List (Low Evidence).","entity_name":"PAK3","entity_type":"gene"},{"created":"2022-11-02T19:06:29.055618+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.744","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAK3 were changed from Mental retardation syndrome, X-linked to Mental retardation syndrome, X-linked 30, MIM#300558","entity_name":"PAK3","entity_type":"gene"},{"created":"2022-11-02T19:06:11.917553+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.743","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PAK3 as Red List (low evidence)","entity_name":"PAK3","entity_type":"gene"},{"created":"2022-11-02T19:06:11.908431+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.743","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pak3 has been classified as Red List (Low Evidence).","entity_name":"PAK3","entity_type":"gene"},{"created":"2022-11-02T19:05:42.091558+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.742","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: P2RY12 as ready","entity_name":"P2RY12","entity_type":"gene"},{"created":"2022-11-02T19:05:42.082326+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.742","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: p2ry12 has been classified as Red List (Low Evidence).","entity_name":"P2RY12","entity_type":"gene"},{"created":"2022-11-02T19:05:32.766979+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.742","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: P2RY12 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"P2RY12","entity_type":"gene"},{"created":"2022-11-02T19:05:17.043224+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.741","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: P2RY12 as Red List (low evidence)","entity_name":"P2RY12","entity_type":"gene"},{"created":"2022-11-02T19:05:17.034325+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.741","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: p2ry12 has been classified as Red List (Low Evidence).","entity_name":"P2RY12","entity_type":"gene"},{"created":"2022-11-02T19:04:37.798505+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.740","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX1 as ready","entity_name":"PEX1","entity_type":"gene"},{"created":"2022-11-02T19:04:37.786210+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.740","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex1 has been classified as Red List (Low Evidence).","entity_name":"PEX1","entity_type":"gene"},{"created":"2022-11-02T19:04:34.515888+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.740","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX1 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 1A (Zellweger), MIM#\t214100","entity_name":"PEX1","entity_type":"gene"},{"created":"2022-11-02T19:04:12.119285+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.739","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX1 as Red List (low evidence)","entity_name":"PEX1","entity_type":"gene"},{"created":"2022-11-02T19:04:12.110174+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.739","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex1 has been classified as Red List (Low Evidence).","entity_name":"PEX1","entity_type":"gene"},{"created":"2022-11-02T19:03:47.769346+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.738","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDHX as ready","entity_name":"PDHX","entity_type":"gene"},{"created":"2022-11-02T19:03:47.760729+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.738","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdhx has been classified as Green List (High Evidence).","entity_name":"PDHX","entity_type":"gene"},{"created":"2022-11-02T19:03:43.932553+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.738","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDHX were changed from Pyruvate dehydrogenase complex deficiency to Lactic acidaemia due to PDX1 deficiency, MIM# 245349","entity_name":"PDHX","entity_type":"gene"},{"created":"2022-11-02T19:03:33.277021+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.737","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDHX were set to ","entity_name":"PDHX","entity_type":"gene"},{"created":"2022-11-02T19:03:18.347324+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.736","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lactic acidaemia due to PDX1 deficiency, MIM# 245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDHX","entity_type":"gene"},{"created":"2022-11-02T19:02:34.971111+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.736","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDHA1 as ready","entity_name":"PDHA1","entity_type":"gene"},{"created":"2022-11-02T19:02:34.958555+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.736","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdha1 has been classified as Green List (High Evidence).","entity_name":"PDHA1","entity_type":"gene"},{"created":"2022-11-02T19:02:31.505962+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.736","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDHA1 were changed from Pyruvate dehydrogenase deficiency to Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170","entity_name":"PDHA1","entity_type":"gene"},{"created":"2022-11-02T19:02:17.702189+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.735","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PDHA1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"PDHA1","entity_type":"gene"},{"created":"2022-11-02T19:02:02.706726+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.734","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: PDHA1: To be reported in females.","entity_name":"PDHA1","entity_type":"gene"},{"created":"2022-11-02T19:00:05.580818+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.734","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170; 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":"PDHA1","entity_type":"gene"},{"created":"2022-11-02T18:59:16.938029+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.734","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PC as ready","entity_name":"PC","entity_type":"gene"},{"created":"2022-11-02T18:59:16.926832+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.734","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pc has been classified as Green List (High Evidence).","entity_name":"PC","entity_type":"gene"},{"created":"2022-11-02T18:59:13.667564+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.734","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency to Pyruvate carboxylase deficiency, MIM# 266150","entity_name":"PC","entity_type":"gene"},{"created":"2022-11-02T18:59:02.903207+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.733","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PC were set to ","entity_name":"PC","entity_type":"gene"},{"created":"2022-11-02T18:58:50.419560+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.732","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate carboxylase deficiency, MIM# 266150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PC","entity_type":"gene"},{"created":"2022-11-02T18:57:51.631764+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.732","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAX8 as ready","entity_name":"PAX8","entity_type":"gene"},{"created":"2022-11-02T18:57:51.623559+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.732","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pax8 has been classified as Green List (High Evidence).","entity_name":"PAX8","entity_type":"gene"},{"created":"2022-11-02T18:57:44.537981+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.732","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAX8 were changed from Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia to Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM#\t218700","entity_name":"PAX8","entity_type":"gene"},{"created":"2022-11-02T18:57:23.212081+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.731","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PAX8 were set to ","entity_name":"PAX8","entity_type":"gene"},{"created":"2022-11-02T18:56:14.169222+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.730","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: NPC2.","entity_name":"NPC2","entity_type":"gene"},{"created":"2022-11-02T18:54:31.537159+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.485","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYCBP2 as ready","entity_name":"MYCBP2","entity_type":"gene"},{"created":"2022-11-02T18:54:31.527502+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.485","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mycbp2 has been classified as Green List (High Evidence).","entity_name":"MYCBP2","entity_type":"gene"},{"created":"2022-11-02T18:54:28.254724+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.485","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYCBP2 were changed from neurodevelopmental spectrum disorder with corpus callosum defects to Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related; corpus callosum abnormalities","entity_name":"MYCBP2","entity_type":"gene"},{"created":"2022-11-02T18:53:12.574451+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.484","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYCBP2 as Green List (high evidence)","entity_name":"MYCBP2","entity_type":"gene"},{"created":"2022-11-02T18:53:12.566202+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.484","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mycbp2 has been classified as Green List (High Evidence).","entity_name":"MYCBP2","entity_type":"gene"},{"created":"2022-11-02T18:47:20.432053+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.730","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC16A2 as Amber List (moderate evidence)","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2022-11-02T18:47:20.422364+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.730","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc16a2 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2022-11-02T17:56:41.362410+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.729","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CYP27A1 as Red List (low evidence)","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2022-11-02T17:56:41.351229+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.729","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyp27a1 has been classified as Red List (Low Evidence).","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2022-11-02T17:56:32.724087+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.728","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: CYP27A1.","entity_name":"CYP27A1","entity_type":"gene"}]}