| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.305 | OPLAH | Bryony Thompson Marked gene: OPLAH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.305 | OPLAH | Bryony Thompson Gene: oplah has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.305 | OPLAH | Bryony Thompson Classified gene: OPLAH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.305 | OPLAH | Bryony Thompson Gene: oplah has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.287 | OPLAH | Bryony Thompson Classified gene: OPLAH as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.287 | OPLAH | Bryony Thompson Added comment: Comment on list classification: Appears to be a benign biochemical defect | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.287 | OPLAH | Bryony Thompson Gene: oplah has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.286 | OPLAH |
Bryony Thompson gene: OPLAH was added gene: OPLAH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: OPLAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OPLAH were set to 27604308; 27477828 Phenotypes for gene: OPLAH were set to 5-oxoprolinase deficiency MIM#260005; Disorders of the gamma-glutamyl cycle Review for gene: OPLAH was set to GREEN Added comment: Characterized as an inborn error of glutathione metabolism, but there is debate as to whether OPLAH deficiency represents a disorder or simply a biochemical condition with no adverse clinical effects because patients lack a consistent clinical picture apart from 5-oxoprolinuria. Clinical features were highly variable and in several sib pairs, did not segregate with 5-oxoprolinuria in 14 families from various backgrounds Sources: NHS GMS |
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