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Likely inborn error of metabolism - targeted testing not possible v4.51 | OGDH | Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: OGDH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.51 | OGDH | Arina Puzriakova reviewed gene: OGDH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.50 | OGDH |
Achchuthan Shanmugasundram Source Expert Review Green was added to OGDH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v4.31 | OGDH | Sarah Leigh Classified gene: OGDH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.31 | OGDH | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.31 | OGDH | Sarah Leigh Gene: ogdh has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.30 | OGDH | Sarah Leigh Tag Q2_23_promote_green tag was added to gene: OGDH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.30 | OGDH | Sarah Leigh reviewed gene: OGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.30 | OGDH | Sarah Leigh Mode of inheritance for gene: OGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.29 | OGDH | Sarah Leigh Phenotypes for gene: OGDH were changed from Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740; oxoglutaricaciduria, MONDO:0008759 to Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740; oxoglutaricaciduria, MONDO:0008759 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.29 | OGDH | Sarah Leigh Phenotypes for gene: OGDH were changed from 2-Oxoglutarate dehydrogenase deficiency (Disorders of the citric acid cycle); Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1); (OXOGLUTARIC ACIDURIA); Alpha-ketoglutarate dehydrogenase deficiency, 203740 to Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740; oxoglutaricaciduria, MONDO:0008759 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.28 | OGDH | Sarah Leigh Publications for gene: OGDH were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.373 | OGDH | Catherine Snow reviewed gene: OGDH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-ketoglutarate dehydrogenase deficiency, 203740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.47 | OGDH |
Ivone Leong Source NHS GMS was added to OGDH. Source London North GLH was added to OGDH. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | OGDH | Ellen McDonagh Added phenotypes Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1) for gene: OGDH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | OGDH |
Ellen McDonagh gene: OGDH was added gene: OGDH was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: OGDH was set to Unknown Publications for gene: OGDH were set to 27604308 Phenotypes for gene: OGDH were set to 2-Oxoglutarate dehydrogenase deficiency (Disorders of the citric acid cycle); (OXOGLUTARIC ACIDURIA); Alpha-ketoglutarate dehydrogenase deficiency, 203740 |