Activity

Filter

Cancel
Date Panel Item Activity
23 actions
Mitochondrial disorders v9.47 IDH1 Ida Ertmanska edited their review of gene: IDH1: Changed rating: AMBER
Mitochondrial disorders v9.47 IDH1 Ida Ertmanska Classified gene: IDH1 as Amber List (moderate evidence)
Mitochondrial disorders v9.47 IDH1 Ida Ertmanska Added comment: Comment on list classification: The rating of this gene has been updated to Amber following NHS Genomic Medicine Service approval. As all variants reported in this gene are somatic mosaic, they would not be reliably detected by a WGS test. Mosaic skin disorders - deep sequencing panel is more appropriate for IDH1 testing.
Mitochondrial disorders v9.47 IDH1 Ida Ertmanska Gene: idh1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v9.43 IDH1 Ida Ertmanska Tag Q2_25_ promote_green was removed from gene: IDH1.
Mitochondrial disorders v9.43 IDH1 Ida Ertmanska reviewed gene: IDH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v9.42 IDH1 Ida Ertmanska Source NHS GMS was added to IDH1.
Source Expert Review Green was added to IDH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v8.31 IDH1 Sarah Leigh edited their review of gene: IDH1: Added comment: Numerous reports of IDH1 variants associated with OMIM:614875, OMIM:614569 and OMIM:166000 (PMID: 24049096; 22025298; 22057234; 22057236).; Changed rating: GREEN
Mitochondrial disorders v8.31 IDH1 Sarah Leigh Tag mosaicism tag was added to gene: IDH1.
Tag Q2_25_ promote_green tag was added to gene: IDH1.
Mitochondrial disorders v8.31 IDH1 Sarah Leigh Classified gene: IDH1 as Amber List (moderate evidence)
Mitochondrial disorders v8.31 IDH1 Sarah Leigh Added comment: Comment on list classification: Somatic variants relevant to this gene, potentially resulting in mosaicism
Mitochondrial disorders v8.31 IDH1 Sarah Leigh Gene: idh1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v8.30 IDH1 Sarah Leigh Publications for gene: IDH1 were set to 24049096 22025298 22057234 22057236; 33340416
Mitochondrial disorders v8.29 IDH1 Sarah Leigh Added comment: Comment on mode of pathogenicity: Gain of function variants associated with Maffucci syndrome and Ollier disease (PMID: 22057234)
Mitochondrial disorders v8.29 IDH1 Sarah Leigh Mode of pathogenicity for gene: IDH1 was changed from None to None
Mitochondrial disorders v8.28 IDH1 Sarah Leigh Added comment: Comment on mode of inheritance: Somatic variants thought to occur early in development, resulting in mosaicism
Mitochondrial disorders v8.28 IDH1 Sarah Leigh Mode of inheritance for gene: IDH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mitochondrial disorders v8.27 IDH1 Sarah Leigh Phenotypes for gene: IDH1 were changed from Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria to Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria OMIM:614875; metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria, MONDO:0013941; Maffucci syndrome, OMIM:614569; Maffucci syndrome, MONDO:0013808; Ollier disease/ Dyschondroplasia, OMIM:166000; Ollier disease, MONDO:0008145
Mitochondrial disorders v8.26 IDH1 Sarah Leigh Publications for gene: IDH1 were set to 33340416
Mitochondrial disorders v2.106 IDH1 Sarah Leigh Publications for gene: IDH1 were set to PMID: 33340416
Mitochondrial disorders v2.47 IDH1 Andžela Lazdāne edited their review of gene: IDH1: Changed rating: AMBER; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.47 IDH1 Andžela Lazdāne changed review comment from: Cytosolic NADP+-dependent isocitrate dehydrogenase 1 superactivity. IDH1 is a dimeric cytosolic NADP-dependent isocitrate dehydrogenase (EC 1.1.1.42) that catalyzes decarboxylation of isocitrate into alpha-ketoglutarate.
The IDH1 gene is included in International classification of inherited metabolic disorders (ICIMD), Disorders of the Krebs cycle.
Sources: Literature; to: Cytosolic NADP+-dependent isocitrate dehydrogenase 1 superactivity. IDH1 is a dimeric cytosolic NADP-dependent isocitrate dehydrogenase (EC 1.1.1.42) that catalyzes decarboxylation of isocitrate into alpha-ketoglutarate.
The IDH1 gene is included in International classification of inherited metabolic disorders (ICIMD), Disorders of the Krebs cycle.
Sources: Literature
Mitochondrial disorders v2.47 IDH1 Andžela Lazdāne gene: IDH1 was added
gene: IDH1 was added to Mitochondrial disorders. Sources: Literature
Mode of inheritance for gene: IDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IDH1 were set to PMID: 33340416
Phenotypes for gene: IDH1 were set to Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Review for gene: IDH1 was set to GREEN
Added comment: Cytosolic NADP+-dependent isocitrate dehydrogenase 1 superactivity. IDH1 is a dimeric cytosolic NADP-dependent isocitrate dehydrogenase (EC 1.1.1.42) that catalyzes decarboxylation of isocitrate into alpha-ketoglutarate.
The IDH1 gene is included in International classification of inherited metabolic disorders (ICIMD), Disorders of the Krebs cycle.
Sources: Literature