{"count":220263,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1422","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1420","results":[{"created":"2021-02-05T09:06:37.822820+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.173","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: glyctk has been classified as Green List (High Evidence).","entity_name":"GLYCTK","entity_type":"gene"},{"created":"2021-02-05T09:06:28.933363+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.173","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: At least 4 unrelated cases reported \nSources: NHS GMS; to: At least 4 unrelated cases reported. D-glyceric aciduria is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism\r\nSources: NHS GMS","entity_name":"GLYCTK","entity_type":"gene"},{"created":"2021-02-05T09:05:12.571580+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.173","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GLYCTK as Green List (high evidence)","entity_name":"GLYCTK","entity_type":"gene"},{"created":"2021-02-05T09:05:12.563552+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.173","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: glyctk has been classified as Green List (High Evidence).","entity_name":"GLYCTK","entity_type":"gene"},{"created":"2021-02-05T09:05:03.330872+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.172","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GLYCTK was added\ngene: GLYCTK was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: GLYCTK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GLYCTK were set to 20949620; 31837836\nPhenotypes for gene: GLYCTK were set to D-glyceric aciduria MIM#220120; Disorders of serine, glycine or glycerate metabolism\nReview for gene: GLYCTK was set to GREEN\ngene: GLYCTK was marked as current diagnostic\nAdded comment: At least 4 unrelated cases reported \nSources: NHS GMS","entity_name":"GLYCTK","entity_type":"gene"},{"created":"2021-02-05T09:00:58.734185+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.171","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GLUL as ready","entity_name":"GLUL","entity_type":"gene"},{"created":"2021-02-05T09:00:58.725395+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.171","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: glul has been classified as Green List (High Evidence).","entity_name":"GLUL","entity_type":"gene"},{"created":"2021-02-05T09:00:54.198605+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.171","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GLUL as Green List (high evidence)","entity_name":"GLUL","entity_type":"gene"},{"created":"2021-02-05T09:00:54.187555+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.171","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: glul has been classified as Green List (High Evidence).","entity_name":"GLUL","entity_type":"gene"},{"created":"2021-02-05T09:00:44.860637+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.170","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GLUL was added\ngene: GLUL was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GLUL were set to 16267323; 21353613; 33150193\nPhenotypes for gene: GLUL were set to Glutamine deficiency, congenital MIM#610015; disorder of amino acid metabolism\nReview for gene: GLUL was set to GREEN\ngene: GLUL was marked as current diagnostic\nAdded comment: At least 5 cases in 4 families have been reported with glutamine deficiency. \nSources: NHS GMS","entity_name":"GLUL","entity_type":"gene"},{"created":"2021-02-05T08:52:05.635027+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.169","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: GLS as ready","entity_name":"GLS","entity_type":"str"},{"created":"2021-02-05T08:52:05.625623+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.169","user_name":"Bryony Thompson","item_type":"entity","text":"Str: gls has been classified as Green List (High Evidence).","entity_name":"GLS","entity_type":"str"},{"created":"2021-02-05T08:52:00.327296+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.169","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: GLS as Green List (high evidence)","entity_name":"GLS","entity_type":"str"},{"created":"2021-02-05T08:52:00.319901+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.169","user_name":"Bryony Thompson","item_type":"entity","text":"Str: gls has been classified as Green List (High Evidence).","entity_name":"GLS","entity_type":"str"},{"created":"2021-02-05T08:51:38.944336+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.168","user_name":"Bryony Thompson","item_type":"entity","text":"STR: GLS was added\nSTR: GLS was added to Miscellaneous Metabolic Disorders. Sources: Literature\nMode of inheritance for STR: GLS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: GLS were set to 30970188\nPhenotypes for STR: GLS were set to Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412\nReview for STR: GLS was set to GREEN\nAdded comment: NM_014905.5(GLS):c.-212_-210GCA[X]\r\n3 unrelated cases with glutaminase deficiency were compound heterozygous (2) or homozygous for expansion of the repeat, 680-900 repeats in blood samples and 400-110 repeats in fibroblasts. In an analysis of 8295 genomes the median size of the repeat was 14 repeats (8-16 repeats range). There was 1 heterozygous allele with 90 repeats. Functional assays suggest the predominant effect of the repeats is at the level of histone modifications. \nSources: Literature","entity_name":"GLS","entity_type":"str"},{"created":"2021-02-05T08:29:17.250209+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.167","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GLS as ready","entity_name":"GLS","entity_type":"gene"},{"created":"2021-02-05T08:29:17.240018+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.167","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gls has been classified as Green List (High Evidence).","entity_name":"GLS","entity_type":"gene"},{"created":"2021-02-05T08:29:06.920701+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.167","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GLS as Green List (high evidence)","entity_name":"GLS","entity_type":"gene"},{"created":"2021-02-05T08:29:06.912749+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.167","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gls has been classified as Green List (High Evidence).","entity_name":"GLS","entity_type":"gene"},{"created":"2021-02-05T08:28:52.775328+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.166","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: GLS were set to ","entity_name":"GLS","entity_type":"gene"},{"created":"2021-02-05T08:24:13.274130+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.164","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GLS was added\ngene: GLS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLS were set to Developmental and epileptic encephalopathy 71 MIM#618328; Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412; disorder of amino acid metabolism","entity_name":"GLS","entity_type":"gene"},{"created":"2021-02-05T07:35:45.869179+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SIX1 as ready","entity_name":"SIX1","entity_type":"gene"},{"created":"2021-02-05T07:35:45.858517+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: six1 has been classified as Green List (High Evidence).","entity_name":"SIX1","entity_type":"gene"},{"created":"2021-02-05T07:35:41.657648+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SIX1 as Green List (high evidence)","entity_name":"SIX1","entity_type":"gene"},{"created":"2021-02-05T07:35:41.650072+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: six1 has been classified as Green List (High Evidence).","entity_name":"SIX1","entity_type":"gene"},{"created":"2021-02-05T07:35:03.752682+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SIX1 was added\ngene: SIX1 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SIX1 were set to 33436522\nPhenotypes for gene: SIX1 were set to Sagittal synostosis; Multi-suture synostosis\nReview for gene: SIX1 was set to GREEN\nAdded comment: Calpena et al 2021 (PMID:33436522) identified 7 families in which the proband had craniosynostosis (affecting at least the sagittal suture in all cases) and a heterozygous SIX1 variant (4 nonsense + 3 missense in highly conserved residues of SIX domain or homeodomain). SIX1 mutations (mostly missense) were previously described in branchio-otic syndrome (BOS). Patients and carriers in the extended family variably had features of BOS (including branchial cysts, ear tags or pits, and hearing loss), but there were also several non-penetrant heterozygous individuals, indicating variation in expressivity. SIX1 analysis is therefore particularly indicated in individuals with either (1) additional BOS features or (2) sagittal+bilambdoid synostosis. \nSources: Literature","entity_name":"SIX1","entity_type":"gene"},{"created":"2021-02-05T07:33:18.530634+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6215","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: DEFINITIVE by ClinGen. Variable expressivity, some families reported with isolated deafness, however this likely represents a spectrum rather than a separate disorder.; to: Deafness/BOS: DEFINITIVE by ClinGen. Variable expressivity, some families reported with isolated deafness, however this likely represents a spectrum rather than a separate disorder.","entity_name":"SIX1","entity_type":"gene"},{"created":"2021-02-05T07:32:44.821001+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6215","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SIX1 were changed from Deafness, autosomal dominant 23, MIM# 605192; Branchiootic syndrome 3, MIM# 608389 to Deafness, autosomal dominant 23, MIM# 605192; Branchiootic syndrome 3, MIM# 608389; Sagittal synostosis; Multi-suture synostosis","entity_name":"SIX1","entity_type":"gene"},{"created":"2021-02-05T07:32:12.142123+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6214","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SIX1 were set to 15141091; 18330911; 21254961; 17637804; 29500469; 21700001; 24164807","entity_name":"SIX1","entity_type":"gene"},{"created":"2021-02-05T07:29:08.997736+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAX8 as ready","entity_name":"PAX8","entity_type":"gene"},{"created":"2021-02-05T07:29:08.989264+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pax8 has been classified as Amber List (Moderate Evidence).","entity_name":"PAX8","entity_type":"gene"},{"created":"2021-02-05T07:28:51.504682+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PAX8 as Amber List (moderate evidence)","entity_name":"PAX8","entity_type":"gene"},{"created":"2021-02-05T07:28:51.494802+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pax8 has been classified as Amber List (Moderate Evidence).","entity_name":"PAX8","entity_type":"gene"},{"created":"2021-02-05T07:28:22.670511+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PAX8 was added\ngene: PAX8 was added to Differences of Sex Development. Sources: Literature\nMode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PAX8 were set to 33434492\nPhenotypes for gene: PAX8 were set to Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)\nReview for gene: PAX8 was set to AMBER\nAdded comment: 5 individuals identified in large cohorts with MRKHS and likely deleterious variants in PAX8. At least one of the individuals had congenital hypothyroidism together with features of MRKHS.\r\n\r\nVariants in this gene are associated with congenital hypothyroidism. \nSources: Literature","entity_name":"PAX8","entity_type":"gene"},{"created":"2021-02-05T07:25:54.806605+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6213","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BMP7 were changed from Non-syndromic metopic craniosynostosis; Congenital abnormalities of the kidneys and urinary tract to Non-syndromic metopic craniosynostosis; Congenital abnormalities of the kidneys and urinary tract; Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)","entity_name":"BMP7","entity_type":"gene"},{"created":"2021-02-05T07:25:39.746880+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6212","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BMP7 were set to 32266521; 24429398","entity_name":"BMP7","entity_type":"gene"},{"created":"2021-02-05T07:25:16.054600+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6211","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: BMP7: Changed publications: 32266521, 24429398, 33434492","entity_name":"BMP7","entity_type":"gene"},{"created":"2021-02-05T07:24:12.676370+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6211","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Non-syndromic metopic craniosynostosis: PMID 32266521 reports rs6127972 as a susceptibility SNP for non-syndromic metopic craniosynostosis\r\n\r\nCAKUT: PMID 24429398 1 family with mouse model in large cohort of CAKUT. \nSources: Literature; to: Non-syndromic metopic craniosynostosis: PMID 32266521 reports rs6127972 as a susceptibility SNP for non-syndromic metopic craniosynostosis\r\n\r\nCAKUT: PMID 24429398 1 family with mouse model in large cohort of CAKUT. \r\nSources: Literature\r\n\r\nPMID 33434492: Two individuals with likely deleterious variants identified in a cohort of individuals with MRKHS. ","entity_name":"BMP7","entity_type":"gene"},{"created":"2021-02-05T07:23:37.173042+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6211","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: BMP7: Changed phenotypes: Non-syndromic metopic craniosynostosis, Congenital abnormalities of the kidneys and urinary tract, Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)","entity_name":"BMP7","entity_type":"gene"},{"created":"2021-02-05T07:23:03.819341+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BMP7 as ready","entity_name":"BMP7","entity_type":"gene"},{"created":"2021-02-05T07:23:03.808877+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bmp7 has been classified as Red List (Low Evidence).","entity_name":"BMP7","entity_type":"gene"},{"created":"2021-02-05T07:22:56.995171+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BMP7 was added\ngene: BMP7 was added to Differences of Sex Development. Sources: Literature\nMode of inheritance for gene: BMP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BMP7 were set to 33434492\nPhenotypes for gene: BMP7 were set to Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)\nReview for gene: BMP7 was set to RED\nAdded comment: Two individuals with likely deleterious variants identified in a cohort of individuals with MRKHS. \nSources: Literature","entity_name":"BMP7","entity_type":"gene"},{"created":"2021-02-05T07:20:02.949140+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6211","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BMP7 were changed from Non-syndromic metopic craniosynostosis to Non-syndromic metopic craniosynostosis; Congenital abnormalities of the kidneys and urinary tract","entity_name":"BMP7","entity_type":"gene"},{"created":"2021-02-05T07:19:39.371337+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6210","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: BMP7: Changed phenotypes: Non-syndromic metopic craniosynostosis, Congenital abnormalities of the kidneys and urinary tract","entity_name":"BMP7","entity_type":"gene"},{"created":"2021-02-04T22:21:06.499931+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6210","user_name":"Arina Puzriakova","item_type":"entity","text":"reviewed gene: SIX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33436522; Phenotypes: Sagittal synostosis, Multi-suture synostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SIX1","entity_type":"gene"},{"created":"2021-02-04T15:53:35.891766+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.163","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GLDC as ready","entity_name":"GLDC","entity_type":"gene"},{"created":"2021-02-04T15:53:35.880720+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.163","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gldc has been classified as Green List (High Evidence).","entity_name":"GLDC","entity_type":"gene"},{"created":"2021-02-04T15:53:33.363675+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.163","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GLDC as Green List (high evidence)","entity_name":"GLDC","entity_type":"gene"},{"created":"2021-02-04T15:53:33.355963+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.163","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gldc has been classified as Green List (High Evidence).","entity_name":"GLDC","entity_type":"gene"},{"created":"2021-02-04T15:52:13.089474+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.162","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GLDC was added\ngene: GLDC was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GLDC were set to 27604308; 2246863; 1634607\nPhenotypes for gene: GLDC were set to Glycine encephalopathy MIM#605899; Disorders of serine, glycine or glycerate metabolism\nReview for gene: GLDC was set to GREEN\ngene: GLDC was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). Glycine encephalopathy is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism. \nSources: NHS GMS","entity_name":"GLDC","entity_type":"gene"},{"created":"2021-02-04T15:47:23.781695+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.161","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GK as ready","entity_name":"GK","entity_type":"gene"},{"created":"2021-02-04T15:47:23.771249+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.161","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gk has been classified as Green List (High Evidence).","entity_name":"GK","entity_type":"gene"},{"created":"2021-02-04T15:47:21.234517+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.161","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GK as Green List (high evidence)","entity_name":"GK","entity_type":"gene"},{"created":"2021-02-04T15:47:21.222274+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.161","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gk has been classified as Green List (High Evidence).","entity_name":"GK","entity_type":"gene"},{"created":"2021-02-04T15:47:10.028869+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.160","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GK was added\ngene: GK was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: GK were set to 27604308; 8499912; 8651297\nPhenotypes for gene: GK were set to Glycerol kinase deficiency MIM#307030; Disorders of glycerol metabolism\nReview for gene: GK was set to GREEN\ngene: GK was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). Isolated glycerol kinase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of glycerol metabolism. \nSources: NHS GMS","entity_name":"GK","entity_type":"gene"},{"created":"2021-02-04T15:39:59.526581+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.159","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GIF as ready","entity_name":"GIF","entity_type":"gene"},{"created":"2021-02-04T15:39:59.516153+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.159","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":"2021-02-04T15:39:56.428902+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.159","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GIF as Green List (high evidence)","entity_name":"GIF","entity_type":"gene"},{"created":"2021-02-04T15:39:56.418573+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.159","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":"2021-02-04T15:39:46.977053+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.158","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GIF was added\ngene: GIF was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GIF were set to 27604308; 14695536; 14576042\nPhenotypes for gene: GIF were set to Intrinsic factor deficiency MIM#261000; Disorders of cobalamin absorption, transport and metabolism\nReview for gene: GIF was set to GREEN\ngene: GIF was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). Intrinsic factor deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of vitamin metabolism. \nSources: NHS GMS","entity_name":"GIF","entity_type":"gene"},{"created":"2021-02-04T15:34:55.165848+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.157","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GCLC as ready","entity_name":"GCLC","entity_type":"gene"},{"created":"2021-02-04T15:34:55.157517+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.157","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gclc has been classified as Green List (High Evidence).","entity_name":"GCLC","entity_type":"gene"},{"created":"2021-02-04T15:34:52.732900+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.157","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GCLC as Green List (high evidence)","entity_name":"GCLC","entity_type":"gene"},{"created":"2021-02-04T15:34:52.722787+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.157","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gclc has been classified as Green List (High Evidence).","entity_name":"GCLC","entity_type":"gene"},{"created":"2021-02-04T15:34:43.659800+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.156","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GCLC was added\ngene: GCLC was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: GCLC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GCLC were set to 27604308; 10515893; 18024385; 11118286; 10733484; 12663448\nPhenotypes for gene: GCLC were set to Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency MIM#230450; Disorders of the gamma-glutamyl cycle\nReview for gene: GCLC was set to GREEN\ngene: GCLC was marked as current diagnostic\nAdded comment: At least 9 cases reported and a mouse model. GCLC deficiency is an inborn error of amino acid and peptide metabolism. \nSources: NHS GMS","entity_name":"GCLC","entity_type":"gene"},{"created":"2021-02-04T15:25:43.645705+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.155","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GCDH as ready","entity_name":"GCDH","entity_type":"gene"},{"created":"2021-02-04T15:25:43.634525+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.155","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gcdh has been classified as Green List (High Evidence).","entity_name":"GCDH","entity_type":"gene"},{"created":"2021-02-04T15:25:40.514076+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.155","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GCDH as Green List (high evidence)","entity_name":"GCDH","entity_type":"gene"},{"created":"2021-02-04T15:25:40.502375+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.155","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gcdh has been classified as Green List (High Evidence).","entity_name":"GCDH","entity_type":"gene"},{"created":"2021-02-04T15:25:31.747212+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.154","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GCDH was added\ngene: GCDH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GCDH were set to 27604308; 8541831; 8900227\nPhenotypes for gene: GCDH were set to Glutaricaciduria, type I MIM#231670; Organic acidurias\nReview for gene: GCDH was set to GREEN\ngene: GCDH was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). Glutaric acidemia type I is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid and peptide metabolism. \nSources: NHS GMS","entity_name":"GCDH","entity_type":"gene"},{"created":"2021-02-04T15:18:46.489955+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.153","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GAMT as ready","entity_name":"GAMT","entity_type":"gene"},{"created":"2021-02-04T15:18:46.473512+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.153","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gamt has been classified as Green List (High Evidence).","entity_name":"GAMT","entity_type":"gene"},{"created":"2021-02-04T15:18:23.686652+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.153","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GAMT as Green List (high evidence)","entity_name":"GAMT","entity_type":"gene"},{"created":"2021-02-04T15:18:23.679087+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.153","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gamt has been classified as Green List (High Evidence).","entity_name":"GAMT","entity_type":"gene"},{"created":"2021-02-04T15:18:16.256852+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.152","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GAMT was added\ngene: GAMT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GAMT were set to 27604308; 8651275\nPhenotypes for gene: GAMT were set to Cerebral creatine deficiency syndrome 2 MIM#612736; Disorders of creatinine metabolism\nReview for gene: GAMT was set to GREEN\ngene: GAMT was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). Guanidinoacetate methyltransferase (GAMT) deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of creatine metabolism. \nSources: NHS GMS","entity_name":"GAMT","entity_type":"gene"},{"created":"2021-02-04T15:12:22.264398+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.151","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GALT as ready","entity_name":"GALT","entity_type":"gene"},{"created":"2021-02-04T15:12:22.253025+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.151","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: galt has been classified as Green List (High Evidence).","entity_name":"GALT","entity_type":"gene"},{"created":"2021-02-04T15:12:19.133287+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.151","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GALT as Green List (high evidence)","entity_name":"GALT","entity_type":"gene"},{"created":"2021-02-04T15:12:19.116174+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.151","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: galt has been classified as Green List (High Evidence).","entity_name":"GALT","entity_type":"gene"},{"created":"2021-02-04T15:12:10.441685+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.150","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GALT was added\ngene: GALT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: GALT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GALT were set to 27604308; 2011574\nPhenotypes for gene: GALT were set to Galactosemia MIM#230400; Disorders of galactose metabolism\nReview for gene: GALT was set to GREEN\ngene: GALT was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). GALT deficiency is considered an inborn error of galactose metabolism. \nSources: NHS GMS","entity_name":"GALT","entity_type":"gene"},{"created":"2021-02-04T15:08:24.515599+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.149","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GALM as ready","entity_name":"GALM","entity_type":"gene"},{"created":"2021-02-04T15:08:24.500714+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.149","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: galm has been classified as Green List (High Evidence).","entity_name":"GALM","entity_type":"gene"},{"created":"2021-02-04T15:08:21.648161+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.149","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GALM as Green List (high evidence)","entity_name":"GALM","entity_type":"gene"},{"created":"2021-02-04T15:08:21.636463+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.149","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: galm has been classified as Green List (High Evidence).","entity_name":"GALM","entity_type":"gene"},{"created":"2021-02-04T15:08:13.484596+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.148","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GALM was added\ngene: GALM was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GALM were set to 30451973; 30910422\nPhenotypes for gene: GALM were set to Galactosemia IV MIM#618881; Disorders of galactose metabolism\nReview for gene: GALM was set to GREEN\ngene: GALM was marked as current diagnostic\nAdded comment: 8 unrelated cases with galactosaemia and supporting in vitro assays. GALM deficiency is an inborn error of galactose metabolism. \nSources: NHS GMS","entity_name":"GALM","entity_type":"gene"},{"created":"2021-02-04T15:00:25.987177+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.147","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GALK1 as ready","entity_name":"GALK1","entity_type":"gene"},{"created":"2021-02-04T15:00:25.976137+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.147","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: galk1 has been classified as Green List (High Evidence).","entity_name":"GALK1","entity_type":"gene"},{"created":"2021-02-04T15:00:23.275333+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.147","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GALK1 as Green List (high evidence)","entity_name":"GALK1","entity_type":"gene"},{"created":"2021-02-04T15:00:23.266354+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.147","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: galk1 has been classified as Green List (High Evidence).","entity_name":"GALK1","entity_type":"gene"},{"created":"2021-02-04T15:00:14.929788+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.146","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GALK1 was added\ngene: GALK1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GALK1 were set to 27604308; 5129682\nPhenotypes for gene: GALK1 were set to Galactokinase deficiency with cataracts MIM#230200; Disorders of galactose metabolism\nReview for gene: GALK1 was set to GREEN\ngene: GALK1 was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). Galactokinase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of galactose metabolism. \nSources: NHS GMS","entity_name":"GALK1","entity_type":"gene"},{"created":"2021-02-04T14:56:42.845227+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.145","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GALE as ready","entity_name":"GALE","entity_type":"gene"},{"created":"2021-02-04T14:56:42.831463+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.145","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gale has been classified as Green List (High Evidence).","entity_name":"GALE","entity_type":"gene"},{"created":"2021-02-04T14:56:40.387234+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.145","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GALE as Green List (high evidence)","entity_name":"GALE","entity_type":"gene"},{"created":"2021-02-04T14:56:40.380018+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.145","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gale has been classified as Green List (High Evidence).","entity_name":"GALE","entity_type":"gene"},{"created":"2021-02-04T14:56:31.988483+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.144","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GALE was added\ngene: GALE was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GALE were set to 27604308; 9700591\nPhenotypes for gene: GALE were set to Galactose epimerase deficiency MIM#230350; Disorders of galactose metabolism\nReview for gene: GALE was set to GREEN\ngene: GALE was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). GALE deficiency is an inborn error of galactose metabolism. \nSources: NHS GMS","entity_name":"GALE","entity_type":"gene"},{"created":"2021-02-04T14:39:44.139478+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.143","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FTCD as ready","entity_name":"FTCD","entity_type":"gene"},{"created":"2021-02-04T14:39:44.130852+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.143","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ftcd has been classified as Green List (High Evidence).","entity_name":"FTCD","entity_type":"gene"},{"created":"2021-02-04T14:39:40.192219+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.143","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FTCD as Green List (high evidence)","entity_name":"FTCD","entity_type":"gene"},{"created":"2021-02-04T14:39:40.167891+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.143","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ftcd has been classified as Green List (High Evidence).","entity_name":"FTCD","entity_type":"gene"},{"created":"2021-02-04T14:39:30.570729+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.142","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FTCD was added\ngene: FTCD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FTCD were set to 27604308; 12815595\nPhenotypes for gene: FTCD were set to Glutamate formiminotransferase deficiency MIM#229100; Disorders of histidine, tryptophan or lysine metabolism\nReview for gene: FTCD was set to GREEN\ngene: FTCD was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). Glutamate formiminotransferase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism. \nSources: NHS GMS","entity_name":"FTCD","entity_type":"gene"}]}