{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=475","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=473","results":[{"created":"2024-04-03T11:19:56.950159+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.220","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: USP14: Rating: GREEN; Mode of pathogenicity: None; Publications: 38469793; Phenotypes: Syndromic disease MONDO:0002254, USP14-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"USP14","entity_type":"gene"},{"created":"2024-04-03T11:19:13.094635+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1634","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: USP14 as ready","entity_name":"USP14","entity_type":"gene"},{"created":"2024-04-03T11:19:13.086965+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1634","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp14 has been classified as Green List (High Evidence).","entity_name":"USP14","entity_type":"gene"},{"created":"2024-04-03T11:19:01.900436+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1634","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: USP14 as Green List (high evidence)","entity_name":"USP14","entity_type":"gene"},{"created":"2024-04-03T11:19:01.889503+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1634","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp14 has been classified as Green List (High Evidence).","entity_name":"USP14","entity_type":"gene"},{"created":"2024-04-03T11:18:31.360657+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1633","user_name":"Zornitza Stark","item_type":"entity","text":"gene: USP14 was added\ngene: USP14 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: USP14 were set to 38469793; 35066879\nPhenotypes for gene: USP14 were set to Syndromic disease MONDO:0002254, USP14-related\nReview for gene: USP14 was set to GREEN\nAdded comment: PMID 35066879: 3 fetuses from 2 different branches of a consanguineous family, presenting with distal arthrogryposis, underdevelopment of the corpus callosum, and dysmorphic facial features. Exome sequencing identified a biallelic 4-bp deletion (c.233_236delTTCC; p.Leu78Glnfs*11) in USP14, and sequencing of family members showed segregation with the phenotype. Ubiquitin-specific protease 14 (USP14) encodes a major proteasome-associated deubiquitinating enzyme with an established dual role as an inhibitor and an activator of proteolysis, maintaining protein homeostasis. Usp14-deficient mice show a phenotype similar to lethal human multiple congenital contractures phenotypes, with callosal anomalies, muscle wasting, and early lethality, attributed to neuromuscular junction defects due to decreased monomeric ubiquitin pool. RT-qPCR experiment in an unaffected heterozygote revealed that mutant USP14 was expressed, indicating that abnormal transcript escapes nonsense-mediated mRNA decay.\r\n\r\nPMID 38469793: biallelic USP14 variants in four individuals from three unrelated families: one fetus, a newborn with a syndromic NDD, and two siblings affected by a progressive neurological disease. Specifically, the two siblings from the latter family carried two compound heterozygous variants c.8T>C p.(Leu3Pro) and c.988C>T p.(Arg330*), while the fetus had a homozygous frameshift c.899_902del p.(Lys300Serfs*24) variant and the newborn patient harbored a homozygous frameshift c.233_236del p.(Leu78Glnfs*11) variant. The fetus and the newborn had extensive brain malformations. \nSources: Literature","entity_name":"USP14","entity_type":"gene"},{"created":"2024-04-03T10:17:22.443540+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"1.0","user_name":"Bryony Thompson","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2024-04-03T10:00:41.613997+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.44","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:THAP11 from the panel","entity_name":null,"entity_type":null},{"created":"2024-04-03T09:59:32.627054+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.43","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:ZNF143 from the panel","entity_name":null,"entity_type":null},{"created":"2024-04-03T09:57:17.710697+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.42","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:TCN2 from the panel","entity_name":null,"entity_type":null},{"created":"2024-04-03T09:55:22.245995+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.41","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:MTR from the panel","entity_name":null,"entity_type":null},{"created":"2024-04-03T09:53:58.673367+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.40","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:MMADHC from the panel","entity_name":null,"entity_type":null},{"created":"2024-04-03T09:53:41.262378+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.36","user_name":"Bryony Thompson","item_type":"entity","text":"Tag treatable tag was added to gene: MMADHC.","entity_name":"MMADHC","entity_type":"gene"},{"created":"2024-04-03T09:53:27.802035+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.39","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:MMACHC from the panel","entity_name":null,"entity_type":null},{"created":"2024-04-03T09:53:12.779242+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.36","user_name":"Bryony Thompson","item_type":"entity","text":"Tag treatable tag was added to gene: MMACHC.","entity_name":"MMACHC","entity_type":"gene"},{"created":"2024-04-03T09:52:25.177924+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.38","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:LMBRD1 from the panel","entity_name":null,"entity_type":null},{"created":"2024-04-03T09:52:07.162044+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.36","user_name":"Bryony Thompson","item_type":"entity","text":"Tag treatable tag was added to gene: LMBRD1.","entity_name":"LMBRD1","entity_type":"gene"},{"created":"2024-04-03T09:51:30.664900+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.37","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:HCFC1 from the panel","entity_name":null,"entity_type":null},{"created":"2024-04-03T09:50:33.998615+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.36","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:GIF from the panel","entity_name":null,"entity_type":null},{"created":"2024-04-03T09:43:31.924173+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.35","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:CUBN from the panel","entity_name":null,"entity_type":null},{"created":"2024-04-03T09:40:51.123897+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.36","user_name":"Bryony Thompson","item_type":"entity","text":"Tag treatable tag was added to gene: CUBN.","entity_name":"CUBN","entity_type":"gene"},{"created":"2024-04-03T09:40:32.789595+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.34","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: CBS were changed from Homocystinuria, B6-responsive and nonresponsive types MIM#236200; disorder of intracellular cobalamin metabolism to Homocystinuria, B6-responsive and nonresponsive types MIM#236200; disorder of intracellular cobalamin metabolism; metabolic disorder of sulfur metabolism","entity_name":"CBS","entity_type":"gene"},{"created":"2024-04-03T09:38:06.846419+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.33","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:AMN from the panel","entity_name":null,"entity_type":null},{"created":"2024-04-03T09:36:49.951104+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.32","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:ABCD4 from the panel","entity_name":null,"entity_type":null},{"created":"2024-04-03T09:36:14.434569+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.36","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: ABCD4 were changed from Methylmalonic aciduria and homocystinuria, cblJ type\tMIM#614857 to Methylmalonic aciduria and homocystinuria, cblJ type\tMIM#614857; disorder of vitamin B12 metabolism","entity_name":"ABCD4","entity_type":"gene"},{"created":"2024-04-03T09:28:21.875858+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.35","user_name":"Bryony Thompson","item_type":"panel","text":"Panel status changed from internal to public","entity_name":null,"entity_type":null},{"created":"2024-04-03T09:27:36.569958+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.34","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TCN1 as ready","entity_name":"TCN1","entity_type":"gene"},{"created":"2024-04-03T09:27:36.560708+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.34","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tcn1 has been classified as Amber List (Moderate Evidence).","entity_name":"TCN1","entity_type":"gene"},{"created":"2024-04-03T09:27:24.360926+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.34","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: Unclear if TC1 deficiency is associated with a clinical phenotype and only found 2 families with genetic findings. 1 confirmed chet (2 truncating variants) with severe TC 1 deficiency (depression and anxiety only reported symptoms, had sickle cell trait) & another family with 2 siblings that are presumed homozygous for a truncating variant (no plasma or serum TC 1 levels but no DNA available for genetic testing) which was found heterozygous in multiple first degree relatives. Unclear if there is a clinical phenotype. Heterozygous individuals displayed mildly low or low-normal TC 1 serum levels \nSources: Literature; to: Unclear if TC1 deficiency is associated with a clinical phenotype and only found 2 families with genetic findings. 1 confirmed chet (2 truncating variants) with severe TC 1 deficiency (depression and anxiety only reported symptoms, had sickle cell trait) & another family with 2 siblings that are presumed homozygous for a truncating variant (no plasma or serum TC 1 levels but no DNA available for genetic testing) which was found heterozygous in multiple first-degree relatives. Unclear if there is a clinical phenotype. Heterozygous individuals displayed mildly low or low-normal TC 1 serum levels. Also, 4 homozygotes were identified in a study of a loss-of-function variant associated with lower vitamin B12 concentration in African Americans but there was limited ability to assess the clinical impact of the recessive disease\r\nSources: Literature","entity_name":"TCN1","entity_type":"gene"},{"created":"2024-04-03T09:23:01.671905+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.34","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: TCN1: Changed publications: 29764838, 19686235","entity_name":"TCN1","entity_type":"gene"},{"created":"2024-04-03T09:19:26.563067+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.34","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TCN1 as Amber List (moderate evidence)","entity_name":"TCN1","entity_type":"gene"},{"created":"2024-04-03T09:19:26.555124+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.34","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tcn1 has been classified as Amber List (Moderate Evidence).","entity_name":"TCN1","entity_type":"gene"},{"created":"2024-04-03T09:19:10.124525+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.33","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TCN1 was added\ngene: TCN1 was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature\nMode of inheritance for gene: TCN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TCN1 were set to 19686235\nPhenotypes for gene: TCN1 were set to transcobalamin I deficiency MONDO:0008659\nReview for gene: TCN1 was set to AMBER\nAdded comment: Unclear if TC1 deficiency is associated with a clinical phenotype and only found 2 families with genetic findings. 1 confirmed chet (2 truncating variants) with severe TC 1 deficiency (depression and anxiety only reported symptoms, had sickle cell trait) & another family with 2 siblings that are presumed homozygous for a truncating variant (no plasma or serum TC 1 levels but no DNA available for genetic testing) which was found heterozygous in multiple first degree relatives. Unclear if there is a clinical phenotype. Heterozygous individuals displayed mildly low or low-normal TC 1 serum levels \nSources: Literature","entity_name":"TCN1","entity_type":"gene"},{"created":"2024-04-03T08:45:42.814477+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5728","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZFX were changed from Neurodevelopmental disorder, MONDO:0700092, ZFX-related to Intellectual developmental disorder, X-linked syndromic 37, MIM# 301118","entity_name":"ZFX","entity_type":"gene"},{"created":"2024-04-03T08:44:57.708622+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZFX were changed from Neurodevelopmental disorder, MONDO:0700092, ZFX-related to Intellectual developmental disorder, X-linked syndromic 37, MIM# 301118","entity_name":"ZFX","entity_type":"gene"},{"created":"2024-04-03T08:44:01.071776+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1631","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ZFX: Changed phenotypes: Intellectual developmental disorder, X-linked syndromic 37, MIM# 301118","entity_name":"ZFX","entity_type":"gene"},{"created":"2024-04-03T08:25:51.006517+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.32","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MTRR as ready","entity_name":"MTRR","entity_type":"gene"},{"created":"2024-04-03T08:25:50.986293+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.32","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mtrr has been classified as Green List (High Evidence).","entity_name":"MTRR","entity_type":"gene"},{"created":"2024-04-03T08:25:48.805602+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.32","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MTRR as Green List (high evidence)","entity_name":"MTRR","entity_type":"gene"},{"created":"2024-04-03T08:25:48.795026+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.32","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mtrr has been classified as Green List (High Evidence).","entity_name":"MTRR","entity_type":"gene"},{"created":"2024-04-03T08:25:38.711309+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.31","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MTR as ready","entity_name":"MTR","entity_type":"gene"},{"created":"2024-04-03T08:25:38.697110+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.31","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mtr has been classified as Green List (High Evidence).","entity_name":"MTR","entity_type":"gene"},{"created":"2024-04-03T08:25:35.857191+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.31","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MTR as Green List (high evidence)","entity_name":"MTR","entity_type":"gene"},{"created":"2024-04-03T08:25:35.848051+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.31","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mtr has been classified as Green List (High Evidence).","entity_name":"MTR","entity_type":"gene"},{"created":"2024-04-03T08:25:28.518041+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.30","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MMADHC as ready","entity_name":"MMADHC","entity_type":"gene"},{"created":"2024-04-03T08:25:28.506360+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.30","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mmadhc has been classified as Green List (High Evidence).","entity_name":"MMADHC","entity_type":"gene"},{"created":"2024-04-03T08:25:17.602963+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.30","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MMADHC as Green List (high evidence)","entity_name":"MMADHC","entity_type":"gene"},{"created":"2024-04-03T08:25:17.577236+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.30","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mmadhc has been classified as Green List (High Evidence).","entity_name":"MMADHC","entity_type":"gene"},{"created":"2024-04-03T08:24:57.685954+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MMACHC as ready","entity_name":"MMACHC","entity_type":"gene"},{"created":"2024-04-03T08:24:57.677295+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mmachc has been classified as Green List (High Evidence).","entity_name":"MMACHC","entity_type":"gene"},{"created":"2024-04-03T08:24:49.636421+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MMACHC as Green List (high evidence)","entity_name":"MMACHC","entity_type":"gene"},{"created":"2024-04-03T08:24:49.628827+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mmachc has been classified as Green List (High Evidence).","entity_name":"MMACHC","entity_type":"gene"},{"created":"2024-04-03T08:24:36.553030+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.28","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: LMBRD1 as ready","entity_name":"LMBRD1","entity_type":"gene"},{"created":"2024-04-03T08:24:36.539162+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.28","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: lmbrd1 has been classified as Green List (High Evidence).","entity_name":"LMBRD1","entity_type":"gene"},{"created":"2024-04-03T08:24:34.285136+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.28","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: LMBRD1 as Green List (high evidence)","entity_name":"LMBRD1","entity_type":"gene"},{"created":"2024-04-03T08:24:34.275548+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.28","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: lmbrd1 has been classified as Green List (High Evidence).","entity_name":"LMBRD1","entity_type":"gene"},{"created":"2024-04-03T08:24:21.761820+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.27","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: HCFC1 as ready","entity_name":"HCFC1","entity_type":"gene"},{"created":"2024-04-03T08:24:21.751777+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.27","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hcfc1 has been classified as Green List (High Evidence).","entity_name":"HCFC1","entity_type":"gene"},{"created":"2024-04-03T08:24:18.915383+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.27","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: HCFC1 as Green List (high evidence)","entity_name":"HCFC1","entity_type":"gene"},{"created":"2024-04-03T08:24:18.903345+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.27","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hcfc1 has been classified as Green List (High Evidence).","entity_name":"HCFC1","entity_type":"gene"},{"created":"2024-04-03T08:24:09.950800+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GIF as ready","entity_name":"GIF","entity_type":"gene"},{"created":"2024-04-03T08:24:09.942478+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gif has been classified as Green List (High Evidence).","entity_name":"GIF","entity_type":"gene"},{"created":"2024-04-03T08:24:07.770496+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GIF as Green List (high evidence)","entity_name":"GIF","entity_type":"gene"},{"created":"2024-04-03T08:24:07.760523+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gif has been classified as Green List (High Evidence).","entity_name":"GIF","entity_type":"gene"},{"created":"2024-04-03T08:23:59.529314+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.25","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CUBN as ready","entity_name":"CUBN","entity_type":"gene"},{"created":"2024-04-03T08:23:59.519095+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.25","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cubn has been classified as Green List (High Evidence).","entity_name":"CUBN","entity_type":"gene"},{"created":"2024-04-03T08:23:56.731003+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.25","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CUBN as Green List (high evidence)","entity_name":"CUBN","entity_type":"gene"},{"created":"2024-04-03T08:23:56.717891+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.25","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cubn has been classified as Green List (High Evidence).","entity_name":"CUBN","entity_type":"gene"},{"created":"2024-04-03T08:23:48.940461+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.24","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: AMN as ready","entity_name":"AMN","entity_type":"gene"},{"created":"2024-04-03T08:23:48.925879+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.24","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: amn has been classified as Green List (High Evidence).","entity_name":"AMN","entity_type":"gene"},{"created":"2024-04-03T08:23:46.515121+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.24","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: AMN as Green List (high evidence)","entity_name":"AMN","entity_type":"gene"},{"created":"2024-04-03T08:23:46.505258+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.24","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: amn has been classified as Green List (High Evidence).","entity_name":"AMN","entity_type":"gene"},{"created":"2024-04-03T08:23:37.123685+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.23","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ABCD4 as ready","entity_name":"ABCD4","entity_type":"gene"},{"created":"2024-04-03T08:23:37.107137+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.23","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: abcd4 has been classified as Green List (High Evidence).","entity_name":"ABCD4","entity_type":"gene"},{"created":"2024-04-03T08:23:34.159781+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.23","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ABCD4 as Green List (high evidence)","entity_name":"ABCD4","entity_type":"gene"},{"created":"2024-04-03T08:23:34.149509+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.23","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: abcd4 has been classified as Green List (High Evidence).","entity_name":"ABCD4","entity_type":"gene"},{"created":"2024-04-03T08:23:03.498180+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.21","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: THAP11 as ready","entity_name":"THAP11","entity_type":"gene"},{"created":"2024-04-03T08:23:03.487194+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.21","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: thap11 has been classified as Red List (Low Evidence).","entity_name":"THAP11","entity_type":"gene"},{"created":"2024-04-03T08:22:40.057249+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.21","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TCN2 as ready","entity_name":"TCN2","entity_type":"gene"},{"created":"2024-04-03T08:22:40.037969+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.21","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tcn2 has been classified as Green List (High Evidence).","entity_name":"TCN2","entity_type":"gene"},{"created":"2024-04-03T08:22:36.946827+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.21","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TCN2 as Green List (high evidence)","entity_name":"TCN2","entity_type":"gene"},{"created":"2024-04-03T08:22:36.937395+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.21","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tcn2 has been classified as Green List (High Evidence).","entity_name":"TCN2","entity_type":"gene"},{"created":"2024-04-03T08:22:25.886254+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"MTRR","entity_type":"gene"},{"created":"2024-04-03T08:22:20.805736+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"MTR","entity_type":"gene"},{"created":"2024-04-03T08:22:15.597735+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"MMADHC","entity_type":"gene"},{"created":"2024-04-03T08:22:10.262416+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"MMACHC","entity_type":"gene"},{"created":"2024-04-03T08:22:05.029314+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"LMBRD1","entity_type":"gene"},{"created":"2024-04-03T08:21:58.624651+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"HCFC1","entity_type":"gene"},{"created":"2024-04-03T08:21:52.175777+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"GIF","entity_type":"gene"},{"created":"2024-04-03T08:21:44.841819+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"CUBN","entity_type":"gene"},{"created":"2024-04-03T08:21:39.599031+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"AMN","entity_type":"gene"},{"created":"2024-04-03T08:21:32.294515+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"ABCD4","entity_type":"gene"},{"created":"2024-04-02T22:15:20.227703+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.19","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TCN2 was added\ngene: TCN2 was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature\nMode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TCN2 were set to 19373259\nPhenotypes for gene: TCN2 were set to Transcobalamin II deficiency, 275350","entity_name":"TCN2","entity_type":"gene"},{"created":"2024-04-02T22:11:38.522061+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ZNF143 as ready","entity_name":"ZNF143","entity_type":"gene"},{"created":"2024-04-02T22:11:38.513887+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: znf143 has been classified as Amber List (Moderate Evidence).","entity_name":"ZNF143","entity_type":"gene"},{"created":"2024-04-02T22:11:33.642393+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ZNF143 as Amber List (moderate evidence)","entity_name":"ZNF143","entity_type":"gene"},{"created":"2024-04-02T22:11:33.630951+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: znf143 has been classified as Amber List (Moderate Evidence).","entity_name":"ZNF143","entity_type":"gene"},{"created":"2024-04-02T22:11:24.881583+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.17","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ZNF143 was added\ngene: ZNF143 was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature\nMode of inheritance for gene: ZNF143 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF143 were set to 27349184; 33845046; 9009278; 22268977; 27349184; 27349184\nPhenotypes for gene: ZNF143 were set to methylmalonic aciduria and homocystinuria MONDO:0016826\nReview for gene: ZNF143 was set to AMBER\nAdded comment: Only a single case with biallelic variants reported. However, given a Moderate gene-disease validity classification by the General Inborn Errors of Metabolism GCEP (assessed 05/03/2024). The gene-disease relationship is also supported by biochemical evidence, functional alteration assays, model systems, and rescue experiments \nSources: Literature","entity_name":"ZNF143","entity_type":"gene"},{"created":"2024-04-02T21:54:12.230483+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: THAP11 as Red List (low evidence)","entity_name":"THAP11","entity_type":"gene"},{"created":"2024-04-02T21:54:12.226502+11:00","panel_name":"Inherited vitamin B12 or cobalamin deficiency","panel_id":4257,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Limited gene-disease validity classification on 09/02/2024 by General Inborn Errors of Metabolism GCEP","entity_name":"THAP11","entity_type":"gene"}]}