{"count":220806,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=733","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=731","results":[{"created":"2022-10-05T20:40:08.608359+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.266","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADAMTS19 were changed from Non-syndromic heart valve disease to Cardiac valvular dysplasia 2, MIM# 620067","entity_name":"ADAMTS19","entity_type":"gene"},{"created":"2022-10-05T20:39:32.242318+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ADAMTS19: Changed phenotypes: Cardiac valvular dysplasia 2, MIM# 620067","entity_name":"ADAMTS19","entity_type":"gene"},{"created":"2022-10-05T20:38:35.724886+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DOHH were changed from Neurodevelopmental disorder, DOHH-related (MONDO#0700092) to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066","entity_name":"DOHH","entity_type":"gene"},{"created":"2022-10-05T20:38:23.601821+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4959","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DOHH were changed from Neurodevelopmental disorder, DOHH-related (MONDO#0700092) to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066","entity_name":"DOHH","entity_type":"gene"},{"created":"2022-10-05T20:38:21.830163+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DOHH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOHH","entity_type":"gene"},{"created":"2022-10-05T20:37:47.986264+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.154","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DOHH were changed from Neurodevelopmental disorder, DOHH-related (MONDO#0700092) to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066","entity_name":"DOHH","entity_type":"gene"},{"created":"2022-10-05T20:37:44.285795+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4958","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DOHH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOHH","entity_type":"gene"},{"created":"2022-10-05T20:37:12.563688+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DOHH were changed from Neurodevelopmental disorder, DOHH-related (MONDO#0700092) to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066","entity_name":"DOHH","entity_type":"gene"},{"created":"2022-10-05T20:37:08.053800+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.153","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DOHH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOHH","entity_type":"gene"},{"created":"2022-10-05T20:36:37.876041+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.264","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DOHH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOHH","entity_type":"gene"},{"created":"2022-10-05T20:36:10.687060+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.345","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DOHH were changed from Neurodevelopmental disorder, DOHH-related (MONDO#0700092) to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066","entity_name":"DOHH","entity_type":"gene"},{"created":"2022-10-05T20:35:48.894794+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.344","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DOHH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOHH","entity_type":"gene"},{"created":"2022-10-05T20:34:48.745432+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4958","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DPH2 were changed from Diphthamide-deficiency syndrome to Developmental delay with short stature, dysmorphic facial features, and sparse hair 2, MIM# 620062; Diphthamide-deficiency syndrome","entity_name":"DPH2","entity_type":"gene"},{"created":"2022-10-05T20:34:16.938896+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4957","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DPH2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2, MIM# 620062; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPH2","entity_type":"gene"},{"created":"2022-10-05T20:33:41.559616+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.344","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DPH2 were changed from Diphthamide-deficiency syndrome to Developmental delay with short stature, dysmorphic facial features, and sparse hair 2, MIM# 620062; Diphthamide-deficiency syndrome","entity_name":"DPH2","entity_type":"gene"},{"created":"2022-10-05T20:33:13.994213+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DPH2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2, MIM# 620062; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPH2","entity_type":"gene"},{"created":"2022-10-05T19:31:16.948980+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHRNA1 as ready","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2022-10-05T19:31:16.940783+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrna1 has been classified as Green List (High Evidence).","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2022-10-05T19:31:13.580974+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHRNA1 were changed from Congenital myasthenic syndrome, MIM#601462 to Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2022-10-05T19:30:57.314196+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.289","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHRNA1 were set to ","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2022-10-05T19:30:41.619069+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CHRNA1: Changed publications: 30808424","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2022-10-05T19:30:22.113455+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CHRNA1.","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2022-10-05T19:30:13.666122+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009668, Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462, Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2022-10-05T19:28:37.938565+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CHAT.","entity_name":"CHAT","entity_type":"gene"},{"created":"2022-10-05T19:28:18.524534+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CHAT.","entity_name":"CHAT","entity_type":"gene"},{"created":"2022-10-05T19:28:06.013164+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.353","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CHAT.","entity_name":"CHAT","entity_type":"gene"},{"created":"2022-10-05T19:27:44.428484+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CHAT.","entity_name":"CHAT","entity_type":"gene"},{"created":"2022-10-05T19:27:32.926271+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHAT as ready","entity_name":"CHAT","entity_type":"gene"},{"created":"2022-10-05T19:27:32.916333+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chat has been classified as Green List (High Evidence).","entity_name":"CHAT","entity_type":"gene"},{"created":"2022-10-05T19:27:06.635645+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CHAT.","entity_name":"CHAT","entity_type":"gene"},{"created":"2022-10-05T19:26:56.745788+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 6, presynaptic, 254210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHAT","entity_type":"gene"},{"created":"2022-10-05T19:16:55.060182+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CA5A as ready","entity_name":"CA5A","entity_type":"gene"},{"created":"2022-10-05T19:16:55.047901+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ca5a has been classified as Green List (High Evidence).","entity_name":"CA5A","entity_type":"gene"},{"created":"2022-10-05T19:16:47.641430+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.836","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CA5A.","entity_name":"CA5A","entity_type":"gene"},{"created":"2022-10-05T19:16:30.493098+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CA5A.","entity_name":"CA5A","entity_type":"gene"},{"created":"2022-10-05T19:16:18.383641+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CA5A.","entity_name":"CA5A","entity_type":"gene"},{"created":"2022-10-05T19:16:07.543989+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CA5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperammonemia due to carbonic anhydrase VA deficiency, 615751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CA5A","entity_type":"gene"},{"created":"2022-10-05T19:14:08.373351+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.\r\n\r\nChildhood onset.\r\n\r\nTreatable with IVIG.; to: Well established gene-disease association with isolated agammaglobulinaemia. At least 3 families reported with associated GH deficiency, which is also treatable.\r\n\r\nChildhood onset.\r\n\r\nTreatable with IVIG.","entity_name":"BTK","entity_type":"gene"},{"created":"2022-10-05T19:13:42.641065+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: BTK: Changed phenotypes: Agammaglobulinaemia, X-linked 1, MIM# 300755, Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200","entity_name":"BTK","entity_type":"gene"},{"created":"2022-10-05T19:13:18.884016+11:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BTK.","entity_name":"BTK","entity_type":"gene"},{"created":"2022-10-05T19:12:58.730581+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BTK.","entity_name":"BTK","entity_type":"gene"},{"created":"2022-10-05T19:12:41.408617+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BTK as ready","entity_name":"BTK","entity_type":"gene"},{"created":"2022-10-05T19:12:41.398549+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: btk has been classified as Green List (High Evidence).","entity_name":"BTK","entity_type":"gene"},{"created":"2022-10-05T19:12:35.707773+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BTK.","entity_name":"BTK","entity_type":"gene"},{"created":"2022-10-05T19:12:25.672045+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: BTK: Well established gene-disease association.\r\n\r\nChildhood onset.\r\n\r\nTreatable with IVIG.","entity_name":"BTK","entity_type":"gene"},{"created":"2022-10-05T19:11:53.740264+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BTK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia, X-linked 1, MIM# 300755; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"BTK","entity_type":"gene"},{"created":"2022-10-05T19:10:55.059882+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCS1L as ready","entity_name":"BCS1L","entity_type":"gene"},{"created":"2022-10-05T19:10:55.048451+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bcs1l has been classified as Red List (Low Evidence).","entity_name":"BCS1L","entity_type":"gene"},{"created":"2022-10-05T19:10:48.876968+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BCS1L were changed from Complex 3 deficiency to Bjornstad syndrome, MIM# 262000; Leigh syndrome, MIM# 256000; BCS1L-related mitochondrial disease","entity_name":"BCS1L","entity_type":"gene"},{"created":"2022-10-05T19:10:37.622490+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.287","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BCS1L as Red List (low evidence)","entity_name":"BCS1L","entity_type":"gene"},{"created":"2022-10-05T19:10:37.610279+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.287","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bcs1l has been classified as Red List (Low Evidence).","entity_name":"BCS1L","entity_type":"gene"},{"created":"2022-10-05T19:10:24.858946+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.286","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BCS1L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bjornstad syndrome, MIM# 262000, Leigh syndrome, MIM# 256000, BCS1L-related mitochondrial disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BCS1L","entity_type":"gene"},{"created":"2022-10-05T19:08:30.531136+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.286","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCKDK as ready","entity_name":"BCKDK","entity_type":"gene"},{"created":"2022-10-05T19:08:30.520820+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.286","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bckdk has been classified as Green List (High Evidence).","entity_name":"BCKDK","entity_type":"gene"},{"created":"2022-10-05T19:08:21.697260+11:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BCKDK.","entity_name":"BCKDK","entity_type":"gene"},{"created":"2022-10-05T19:08:03.530543+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4957","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BCKDK.","entity_name":"BCKDK","entity_type":"gene"},{"created":"2022-10-05T19:07:36.517502+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.286","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BCKDK.","entity_name":"BCKDK","entity_type":"gene"},{"created":"2022-10-05T19:07:27.425833+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.286","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: BCKDK: Confirmatory non-genetic testing: serum amino acids, urine organic acids","entity_name":"BCKDK","entity_type":"gene"},{"created":"2022-10-05T19:06:38.118939+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.286","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BCKDK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Branched-chain ketoacid dehydrogenase kinase deficiency MIM#614923; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BCKDK","entity_type":"gene"},{"created":"2022-10-05T19:05:22.859075+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.286","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: BCHE.","entity_name":"BCHE","entity_type":"gene"},{"created":"2022-10-05T19:05:13.561137+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.286","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BCHE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Butyrylcholinesterase deficiency, MIM# 617936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BCHE","entity_type":"gene"},{"created":"2022-10-05T19:03:18.809799+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.286","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AUH as ready","entity_name":"AUH","entity_type":"gene"},{"created":"2022-10-05T19:03:18.795309+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.286","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: auh has been classified as Red List (Low Evidence).","entity_name":"AUH","entity_type":"gene"},{"created":"2022-10-05T19:03:15.518447+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.286","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AUH were changed from 3-methylglutaconic aciduria, type I to 3-methylglutaconic aciduria, type I , MIM#250950","entity_name":"AUH","entity_type":"gene"},{"created":"2022-10-05T19:02:57.625253+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.285","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AUH as Red List (low evidence)","entity_name":"AUH","entity_type":"gene"},{"created":"2022-10-05T19:02:57.616451+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.285","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: auh has been classified as Red List (Low Evidence).","entity_name":"AUH","entity_type":"gene"},{"created":"2022-10-05T19:02:46.019853+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.284","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AUH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type I 250950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AUH","entity_type":"gene"},{"created":"2022-10-05T19:01:24.179342+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.284","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MCOLN1 as ready","entity_name":"MCOLN1","entity_type":"gene"},{"created":"2022-10-05T19:01:24.171017+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.284","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcoln1 has been classified as Red List (Low Evidence).","entity_name":"MCOLN1","entity_type":"gene"},{"created":"2022-10-05T19:01:20.342221+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.284","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MCOLN1 were changed from Mucolipidosis IV to Mucolipidosis IV, MIM# 252650","entity_name":"MCOLN1","entity_type":"gene"},{"created":"2022-10-05T19:00:57.576056+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.283","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MCOLN1 as Red List (low evidence)","entity_name":"MCOLN1","entity_type":"gene"},{"created":"2022-10-05T19:00:57.566198+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.283","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcoln1 has been classified as Red List (Low Evidence).","entity_name":"MCOLN1","entity_type":"gene"},{"created":"2022-10-05T18:59:47.419315+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SHOX as ready","entity_name":"SHOX","entity_type":"gene"},{"created":"2022-10-05T18:59:47.405804+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shox has been classified as Green List (High Evidence).","entity_name":"SHOX","entity_type":"gene"},{"created":"2022-10-05T18:59:43.750337+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SHOX as Green List (high evidence)","entity_name":"SHOX","entity_type":"gene"},{"created":"2022-10-05T18:59:43.740800+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shox has been classified as Green List (High Evidence).","entity_name":"SHOX","entity_type":"gene"},{"created":"2022-10-05T18:58:50.945995+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC10A7 as ready","entity_name":"SLC10A7","entity_type":"gene"},{"created":"2022-10-05T18:58:50.937590+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc10a7 has been classified as Green List (High Evidence).","entity_name":"SLC10A7","entity_type":"gene"},{"created":"2022-10-05T18:58:47.094428+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC10A7 as Green List (high evidence)","entity_name":"SLC10A7","entity_type":"gene"},{"created":"2022-10-05T18:58:47.086236+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc10a7 has been classified as Green List (High Evidence).","entity_name":"SLC10A7","entity_type":"gene"},{"created":"2022-10-05T18:58:06.280121+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC29A3 as ready","entity_name":"SLC29A3","entity_type":"gene"},{"created":"2022-10-05T18:58:06.266429+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc29a3 has been classified as Green List (High Evidence).","entity_name":"SLC29A3","entity_type":"gene"},{"created":"2022-10-05T18:58:01.785598+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC29A3 as Green List (high evidence)","entity_name":"SLC29A3","entity_type":"gene"},{"created":"2022-10-05T18:58:01.775414+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc29a3 has been classified as Green List (High Evidence).","entity_name":"SLC29A3","entity_type":"gene"},{"created":"2022-10-05T18:57:18.916958+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMAD4 as ready","entity_name":"SMAD4","entity_type":"gene"},{"created":"2022-10-05T18:57:18.896049+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smad4 has been classified as Green List (High Evidence).","entity_name":"SMAD4","entity_type":"gene"},{"created":"2022-10-05T18:50:36.553742+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMAD4 as Green List (high evidence)","entity_name":"SMAD4","entity_type":"gene"},{"created":"2022-10-05T18:50:36.545843+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smad4 has been classified as Green List (High Evidence).","entity_name":"SMAD4","entity_type":"gene"},{"created":"2022-10-05T18:49:59.036938+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMARCAL1 as ready","entity_name":"SMARCAL1","entity_type":"gene"},{"created":"2022-10-05T18:49:59.022468+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smarcal1 has been classified as Green List (High Evidence).","entity_name":"SMARCAL1","entity_type":"gene"},{"created":"2022-10-05T18:49:53.850552+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMARCAL1 as Green List (high evidence)","entity_name":"SMARCAL1","entity_type":"gene"},{"created":"2022-10-05T18:49:53.842106+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smarcal1 has been classified as Green List (High Evidence).","entity_name":"SMARCAL1","entity_type":"gene"},{"created":"2022-10-05T18:49:12.239527+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBX15 as ready","entity_name":"TBX15","entity_type":"gene"},{"created":"2022-10-05T18:49:12.231668+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbx15 has been classified as Green List (High Evidence).","entity_name":"TBX15","entity_type":"gene"},{"created":"2022-10-05T18:49:08.188229+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TBX15 as Green List (high evidence)","entity_name":"TBX15","entity_type":"gene"},{"created":"2022-10-05T18:49:08.179588+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbx15 has been classified as Green List (High Evidence).","entity_name":"TBX15","entity_type":"gene"},{"created":"2022-10-05T18:46:38.046834+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.282","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP7B as ready","entity_name":"ATP7B","entity_type":"gene"},{"created":"2022-10-05T18:46:38.038228+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.282","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp7b has been classified as Green List (High Evidence).","entity_name":"ATP7B","entity_type":"gene"},{"created":"2022-10-05T18:46:33.770323+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.282","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP7B were changed from Wilson disease to Wilson disease MIM#277900","entity_name":"ATP7B","entity_type":"gene"},{"created":"2022-10-05T18:46:19.360511+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.281","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: ATP7B.","entity_name":"ATP7B","entity_type":"gene"}]}