| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aminoacidopathy v1.120 | OPLAH | Zornitza Stark Marked gene: OPLAH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.120 | OPLAH | Zornitza Stark Gene: oplah has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.120 | OPLAH | Zornitza Stark Classified gene: OPLAH as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.120 | OPLAH | Zornitza Stark Gene: oplah has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.113 | OPLAH |
Sangavi Sivagnanasundram gene: OPLAH was added gene: OPLAH was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: OPLAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OPLAH were set to 27477828; 27604308 Phenotypes for gene: OPLAH were set to 5-oxoprolinase deficiency MONDO:0009825; Disorders of glutathione metabolism Review for gene: OPLAH was set to RED Added comment: Variants have been reported in individuals however it appears that this inborn error of glutathione metabolism appears to be of benign nature. Sources: Other |
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