Activity
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19 actions
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| Likely inborn error of metabolism v8.105 | IDH1 | Ida Ertmanska Classified gene: IDH1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.105 | 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.105 | IDH1 | Ida Ertmanska Gene: idh1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.95 | IDH1 | Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: All IDH1 variants reported to be associated with MIMs #614875, #614569 and #166000 are somatic mosaic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.95 | IDH1 | Achchuthan Shanmugasundram Mode of inheritance for gene: IDH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.94 | IDH1 | Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: IDH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.94 | IDH1 | Achchuthan Shanmugasundram reviewed gene: IDH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.93 | IDH1 |
Achchuthan Shanmugasundram 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) |
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| Likely inborn error of metabolism v7.25 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.25 | IDH1 |
Sarah Leigh Tag mosaicism tag was added to gene: IDH1. Tag Q2_25_ promote_green tag was added to gene: IDH1. |
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| Likely inborn error of metabolism v7.25 | IDH1 | Sarah Leigh Classified gene: IDH1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.25 | IDH1 | Sarah Leigh Added comment: Comment on list classification: Somatic variants relevant to this gene, potentially resulting in mosaicism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.25 | IDH1 | Sarah Leigh Gene: idh1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.24 | IDH1 | Sarah Leigh Publications for gene: IDH1 were set to 33340416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.23 | IDH1 | Sarah Leigh Added comment: Comment on mode of inheritance: Somatic variants thought to occur early in development, resulting in mosaicism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.23 | IDH1 | Sarah Leigh Mode of inheritance for gene: IDH1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.22 | IDH1 | Sarah Leigh Phenotypes for gene: IDH1 were changed from Failure to thrive; Psychomotor delay; Feeding difficulties; Increased D-2-Hydroxyglutaric acid in urine 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v2.256 | IDH1 | Sarah Leigh Publications for gene: IDH1 were set to PMID: 33340416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v2.154 | IDH1 |
Andžela Lazdāne gene: IDH1 was added gene: IDH1 was added to Inborn errors of metabolism. Sources: Literature Mode of inheritance for gene: IDH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IDH1 were set to PMID: 33340416 Phenotypes for gene: IDH1 were set to Failure to thrive; Psychomotor delay; Feeding difficulties; Increased D-2-Hydroxyglutaric acid in urine Review for gene: IDH1 was set to AMBER Added comment: Isocitrate dehydrogenase 1 deficiency. IEM Nosology Group (IEMbase):Disorders of the Krebs cycle. The IDH1 gene is included in International classification of inherited metabolic disorders (ICIMD), Disorders of the Krebs cycle. Sources: Literature |
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