{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=658","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=656","results":[{"created":"2022-12-23T14:12:41.286890+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1630","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PROS1 as Red List (low evidence)","entity_name":"PROS1","entity_type":"gene"},{"created":"2022-12-23T14:12:41.269019+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1630","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pros1 has been classified as Red List (Low Evidence).","entity_name":"PROS1","entity_type":"gene"},{"created":"2022-12-23T14:12:28.760124+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1629","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PROS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombophilia 5 due to protein S deficiency, autosomal dominant, MIM# 612336, Thrombophilia 5 due to protein S deficiency, autosomal recessive, MIM# 614514; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PROS1","entity_type":"gene"},{"created":"2022-12-23T14:10:24.028737+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1629","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PROP1 as ready","entity_name":"PROP1","entity_type":"gene"},{"created":"2022-12-23T14:10:24.000414+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1629","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prop1 has been classified as Green List (High Evidence).","entity_name":"PROP1","entity_type":"gene"},{"created":"2022-12-23T14:10:17.747064+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1629","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: PROP1.\nTag endocrine tag was added to gene: PROP1.","entity_name":"PROP1","entity_type":"gene"},{"created":"2022-12-23T14:10:04.327355+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1629","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PROP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 2 (MIM#262600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PROP1","entity_type":"gene"},{"created":"2022-12-23T14:08:23.746204+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1629","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PROKR2 as ready","entity_name":"PROKR2","entity_type":"gene"},{"created":"2022-12-23T14:08:23.734516+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1629","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prokr2 has been classified as Red List (Low Evidence).","entity_name":"PROKR2","entity_type":"gene"},{"created":"2022-12-23T14:08:19.736156+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1629","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PROKR2 were changed from Hypogonadotropic hypogonadism to Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200","entity_name":"PROKR2","entity_type":"gene"},{"created":"2022-12-23T14:08:03.822174+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1628","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PROKR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PROKR2","entity_type":"gene"},{"created":"2022-12-23T14:07:53.500670+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1627","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PROKR2 as Red List (low evidence)","entity_name":"PROKR2","entity_type":"gene"},{"created":"2022-12-23T14:07:53.489502+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1627","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prokr2 has been classified as Red List (Low Evidence).","entity_name":"PROKR2","entity_type":"gene"},{"created":"2022-12-23T14:07:40.725258+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1626","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PROKR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PROKR2","entity_type":"gene"},{"created":"2022-12-23T14:05:39.912878+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1626","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PROC as ready","entity_name":"PROC","entity_type":"gene"},{"created":"2022-12-23T14:05:39.900454+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1626","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: proc has been classified as Red List (Low Evidence).","entity_name":"PROC","entity_type":"gene"},{"created":"2022-12-23T14:05:36.072525+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1626","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PROC were changed from Thrombophilia due to protein C deficiency to Thrombophilia due to protein C deficiency, autosomal dominant (176860); Thrombophilia due to protein C deficiency, autosomal recessive (612304)","entity_name":"PROC","entity_type":"gene"},{"created":"2022-12-23T14:05:23.326452+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1625","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PROC was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PROC","entity_type":"gene"},{"created":"2022-12-23T14:05:13.837439+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1624","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PROC as Red List (low evidence)","entity_name":"PROC","entity_type":"gene"},{"created":"2022-12-23T14:05:13.826632+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1624","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: proc has been classified as Red List (Low Evidence).","entity_name":"PROC","entity_type":"gene"},{"created":"2022-12-23T14:05:00.303188+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1623","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PROC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombophilia due to protein C deficiency, autosomal dominant (176860), Thrombophilia due to protein C deficiency, autosomal recessive (612304); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PROC","entity_type":"gene"},{"created":"2022-12-23T14:02:59.387898+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1623","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRKDC as ready","entity_name":"PRKDC","entity_type":"gene"},{"created":"2022-12-23T14:02:59.373962+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1623","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkdc has been classified as Green List (High Evidence).","entity_name":"PRKDC","entity_type":"gene"},{"created":"2022-12-23T14:02:51.586763+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1623","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: PRKDC.\nTag immunological tag was added to gene: PRKDC.","entity_name":"PRKDC","entity_type":"gene"},{"created":"2022-12-23T14:02:40.155094+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1623","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRKDC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 26, with or without neurologic abnormalities MIM# 615966; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRKDC","entity_type":"gene"},{"created":"2022-12-23T14:00:49.015136+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1623","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRKAR1A as ready","entity_name":"PRKAR1A","entity_type":"gene"},{"created":"2022-12-23T14:00:49.003796+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1623","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkar1a has been classified as Red List (Low Evidence).","entity_name":"PRKAR1A","entity_type":"gene"},{"created":"2022-12-23T14:00:44.577672+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1623","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRKAR1A were changed from Carney complex to Acrodysostosis 1, with or without hormone resistance, MIM# 101800; Carney complex, type 1, MIM# 160980; Myxoma, intracardiac, MIM# 255960; Pigmented nodular adrenocortical disease, primary, 1, MIM# 610489","entity_name":"PRKAR1A","entity_type":"gene"},{"created":"2022-12-23T14:00:32.898654+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1622","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRKAR1A as Red List (low evidence)","entity_name":"PRKAR1A","entity_type":"gene"},{"created":"2022-12-23T14:00:32.886153+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1622","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkar1a has been classified as Red List (Low Evidence).","entity_name":"PRKAR1A","entity_type":"gene"},{"created":"2022-12-23T14:00:20.794949+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1621","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRKAR1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrodysostosis 1, with or without hormone resistance, MIM# 101800, Carney complex, type 1, MIM# 160980, Myxoma, intracardiac, MIM# 255960, Pigmented nodular adrenocortical disease, primary, 1, MIM# 610489; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRKAR1A","entity_type":"gene"},{"created":"2022-12-23T13:57:50.180830+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1621","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRF1 as ready","entity_name":"PRF1","entity_type":"gene"},{"created":"2022-12-23T13:57:50.167363+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1621","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prf1 has been classified as Green List (High Evidence).","entity_name":"PRF1","entity_type":"gene"},{"created":"2022-12-23T13:57:39.681235+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1621","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: PRF1.\nTag immunological tag was added to gene: PRF1.","entity_name":"PRF1","entity_type":"gene"},{"created":"2022-12-23T13:57:20.287950+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1621","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Treatment: Emapalumab, bone marrow transplant; to: Well established gene-disease association.\r\n\r\nOnset is generally in infancy or early childhood.\r\n\r\nTreatment: Emapalumab, bone marrow transplant.\r\n\r\nNon-genetic confirmatory tests: natural killer cell activity, cytotoxic T lymphocyte activity","entity_name":"PRF1","entity_type":"gene"},{"created":"2022-12-23T13:56:09.775746+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1621","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PRF1: Changed phenotypes: Hemophagocytic lymphohistiocytosis, familial, 2 603553","entity_name":"PRF1","entity_type":"gene"},{"created":"2022-12-23T13:55:45.984023+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1621","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRF1","entity_type":"gene"},{"created":"2022-12-23T13:51:02.419585+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1621","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PNPO as ready","entity_name":"PNPO","entity_type":"gene"},{"created":"2022-12-23T13:51:02.402689+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1621","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnpo has been classified as Green List (High Evidence).","entity_name":"PNPO","entity_type":"gene"},{"created":"2022-12-23T13:50:57.065569+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1621","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PNPO were set to ","entity_name":"PNPO","entity_type":"gene"},{"created":"2022-12-23T13:50:41.498772+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1620","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PNPO were changed from Epileptic encephalopathy, neonatal, MIM#610090 to Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090","entity_name":"PNPO","entity_type":"gene"},{"created":"2022-12-23T13:50:29.267506+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1619","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: PNPO.\nTag metabolic tag was added to gene: PNPO.","entity_name":"PNPO","entity_type":"gene"},{"created":"2022-12-23T13:49:40.966364+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1619","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPT1 as ready","entity_name":"PPT1","entity_type":"gene"},{"created":"2022-12-23T13:49:40.954740+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1619","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppt1 has been classified as Red List (Low Evidence).","entity_name":"PPT1","entity_type":"gene"},{"created":"2022-12-23T13:49:36.576880+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1619","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PPT1 were set to ","entity_name":"PPT1","entity_type":"gene"},{"created":"2022-12-23T13:49:30.516255+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1618","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPT1 were changed from Neuronal ceroid lipofuscinosis to Ceroid lipofuscinosis, neuronal, 1, MIM# 256730","entity_name":"PPT1","entity_type":"gene"},{"created":"2022-12-23T13:49:18.473640+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1617","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PPT1 as Red List (low evidence)","entity_name":"PPT1","entity_type":"gene"},{"created":"2022-12-23T13:49:18.461128+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1617","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppt1 has been classified as Red List (Low Evidence).","entity_name":"PPT1","entity_type":"gene"},{"created":"2022-12-23T13:47:55.903509+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1616","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POU4F3 as ready","entity_name":"POU4F3","entity_type":"gene"},{"created":"2022-12-23T13:47:55.891766+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1616","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pou4f3 has been classified as Red List (Low Evidence).","entity_name":"POU4F3","entity_type":"gene"},{"created":"2022-12-23T13:47:52.330912+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1616","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POU4F3 were changed from Deafness, autosomal dominant to Deafness, autosomal dominant 15, MIM# 602459","entity_name":"POU4F3","entity_type":"gene"},{"created":"2022-12-23T13:47:39.787355+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1615","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POU4F3 as Red List (low evidence)","entity_name":"POU4F3","entity_type":"gene"},{"created":"2022-12-23T13:47:39.776028+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1615","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pou4f3 has been classified as Red List (Low Evidence).","entity_name":"POU4F3","entity_type":"gene"},{"created":"2022-12-23T13:47:28.566490+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1614","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POU4F3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 15, MIM# 602459; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"POU4F3","entity_type":"gene"},{"created":"2022-12-23T13:45:37.026586+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1614","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POU3F4 as ready","entity_name":"POU3F4","entity_type":"gene"},{"created":"2022-12-23T13:45:37.009963+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1614","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pou3f4 has been classified as Red List (Low Evidence).","entity_name":"POU3F4","entity_type":"gene"},{"created":"2022-12-23T13:45:32.901637+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1614","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POU3F4 were changed from Deafness, X-linked to Deafness, X-linked 2, MIM#304400","entity_name":"POU3F4","entity_type":"gene"},{"created":"2022-12-23T13:45:19.453644+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1613","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POU3F4 as Red List (low evidence)","entity_name":"POU3F4","entity_type":"gene"},{"created":"2022-12-23T13:45:19.440471+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1613","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pou3f4 has been classified as Red List (Low Evidence).","entity_name":"POU3F4","entity_type":"gene"},{"created":"2022-12-23T13:45:08.790807+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1612","user_name":"John Christodoulou","item_type":"entity","text":"edited their review of gene: PYGL: Changed rating: GREEN","entity_name":"PYGL","entity_type":"gene"},{"created":"2022-12-23T13:45:07.024997+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1612","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POU3F4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, X-linked 2, MIM#304400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"POU3F4","entity_type":"gene"},{"created":"2022-12-23T13:44:52.459522+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1612","user_name":"John Christodoulou","item_type":"entity","text":"edited their review of gene: PYGL: Changed publications: PMID: 30659246, PMID: 35725468, PMID: 20301760; Changed phenotypes: hepatomegaly, hypoglycaemia, cardiomyopathy, short stature","entity_name":"PYGL","entity_type":"gene"},{"created":"2022-12-23T13:43:05.528513+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1612","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POU1F1 as ready","entity_name":"POU1F1","entity_type":"gene"},{"created":"2022-12-23T13:43:05.515109+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1612","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pou1f1 has been classified as Green List (High Evidence).","entity_name":"POU1F1","entity_type":"gene"},{"created":"2022-12-23T13:42:57.392152+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1612","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POU1F1 were changed from Pituitary hormone deficiency, MIM#613038 to Pituitary hormone deficiency, combined, 1 MIM# 613038","entity_name":"POU1F1","entity_type":"gene"},{"created":"2022-12-23T13:42:44.412777+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1611","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POU1F1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"POU1F1","entity_type":"gene"},{"created":"2022-12-23T13:42:33.497583+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1610","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: POU1F1.\nTag endocrine tag was added to gene: POU1F1.","entity_name":"POU1F1","entity_type":"gene"},{"created":"2022-12-23T13:42:19.378037+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1610","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POU1F1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 1 MIM# 613038; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"POU1F1","entity_type":"gene"},{"created":"2022-12-23T13:41:17.435490+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1610","user_name":"John Christodoulou","item_type":"entity","text":"commented on gene: PYGL: Generally a mild disorder - presenting in early childhood with hepatomegaly due to glycogen storage\r\n\r\nsome at risk of hypoglycaemia; some may develop muscle cramps or cardiomyopathy\r\n\r\nrisk of hepatic adenomas - ultrasound surveillance recommended from 5 yrs\r\n\r\ntreatment cornstarch and high protein diet - growth improves and hypoglycaemia is no longer  problem","entity_name":"PYGL","entity_type":"gene"},{"created":"2022-12-23T13:41:16.803938+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1610","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PYGL: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: hepatomegaly, hypoglycaemia, cardiomyo; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PYGL","entity_type":"gene"},{"created":"2022-12-23T13:40:29.222432+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1610","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PORCN as ready","entity_name":"PORCN","entity_type":"gene"},{"created":"2022-12-23T13:40:29.198334+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1610","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: porcn has been classified as Red List (Low Evidence).","entity_name":"PORCN","entity_type":"gene"},{"created":"2022-12-23T13:40:24.671031+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1610","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PORCN were changed from Focal dermal hypoplasia to Focal dermal hypoplasia, MIM#305600","entity_name":"PORCN","entity_type":"gene"},{"created":"2022-12-23T13:40:11.709594+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1609","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PORCN 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":"PORCN","entity_type":"gene"},{"created":"2022-12-23T13:39:51.816392+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1608","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PORCN as Red List (low evidence)","entity_name":"PORCN","entity_type":"gene"},{"created":"2022-12-23T13:39:51.803808+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1608","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: porcn has been classified as Red List (Low Evidence).","entity_name":"PORCN","entity_type":"gene"},{"created":"2022-12-23T13:39:40.136675+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1607","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PORCN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Focal dermal hypoplasia, MIM#305600; 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":"PORCN","entity_type":"gene"},{"created":"2022-12-23T13:34:07.575786+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1607","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PSPH: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29899766; Phenotypes: microcephaly, seizures, hypertonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PSPH","entity_type":"gene"},{"created":"2022-12-23T13:31:43.498358+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1607","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POR as ready","entity_name":"POR","entity_type":"gene"},{"created":"2022-12-23T13:31:43.472387+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1607","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: por has been classified as Green List (High Evidence).","entity_name":"POR","entity_type":"gene"},{"created":"2022-12-23T13:31:21.084764+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1607","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POR were changed from Disordered steroidogenesis with and without Antley-Bixler syndrome, MIM#201750 to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM# 613571","entity_name":"POR","entity_type":"gene"},{"created":"2022-12-23T13:31:02.548422+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1606","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: POR.\nTag endocrine tag was added to gene: POR.","entity_name":"POR","entity_type":"gene"},{"created":"2022-12-23T13:30:47.281478+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1606","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: POR: Changed rating: GREEN","entity_name":"POR","entity_type":"gene"},{"created":"2022-12-23T13:30:39.998436+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1606","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POR: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750, Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM# 613571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POR","entity_type":"gene"},{"created":"2022-12-23T13:25:33.676859+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1606","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PPT1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 21990111; Phenotypes: neurodegeneration, seizures, ataxia, optic atrophy, retinal abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PPT1","entity_type":"gene"},{"created":"2022-12-23T13:20:49.668507+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1606","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POMT2 as ready","entity_name":"POMT2","entity_type":"gene"},{"created":"2022-12-23T13:20:49.655812+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1606","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pomt2 has been classified as Red List (Low Evidence).","entity_name":"POMT2","entity_type":"gene"},{"created":"2022-12-23T13:20:46.072535+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1606","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POMT2 were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 MIM# 613158","entity_name":"POMT2","entity_type":"gene"},{"created":"2022-12-23T13:20:28.542896+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1605","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POMT2 as Red List (low evidence)","entity_name":"POMT2","entity_type":"gene"},{"created":"2022-12-23T13:20:28.530026+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1605","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pomt2 has been classified as Red List (Low Evidence).","entity_name":"POMT2","entity_type":"gene"},{"created":"2022-12-23T13:20:15.380824+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1604","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POMT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POMT2","entity_type":"gene"},{"created":"2022-12-23T13:18:58.277442+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1604","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POMGNT1 as ready","entity_name":"POMGNT1","entity_type":"gene"},{"created":"2022-12-23T13:18:58.249869+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1604","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pomgnt1 has been classified as Red List (Low Evidence).","entity_name":"POMGNT1","entity_type":"gene"},{"created":"2022-12-23T13:18:46.383324+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1604","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POMGNT1 were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135; Retinitis pigmentosa 76, MIM# 617123","entity_name":"POMGNT1","entity_type":"gene"},{"created":"2022-12-23T13:18:27.897460+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1603","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POMGNT1 as Red List (low evidence)","entity_name":"POMGNT1","entity_type":"gene"},{"created":"2022-12-23T13:18:27.884710+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1603","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pomgnt1 has been classified as Red List (Low Evidence).","entity_name":"POMGNT1","entity_type":"gene"},{"created":"2022-12-23T13:18:14.349205+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1602","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POMGNT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135, Retinitis pigmentosa 76 617123; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POMGNT1","entity_type":"gene"},{"created":"2022-12-23T13:15:06.724028+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1602","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLH as ready","entity_name":"POLH","entity_type":"gene"},{"created":"2022-12-23T13:15:06.707084+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1602","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polh has been classified as Red List (Low Evidence).","entity_name":"POLH","entity_type":"gene"},{"created":"2022-12-23T13:15:02.604746+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1602","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLH were changed from Xeroderma pigmentosum to Xeroderma pigmentosum, variant type, MIM# 278750","entity_name":"POLH","entity_type":"gene"}]}