| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.304 | DCXR | Bryony Thompson Marked gene: DCXR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.304 | DCXR | Bryony Thompson Gene: dcxr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.304 | DCXR | Bryony Thompson Classified gene: DCXR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.304 | DCXR | Bryony Thompson Gene: dcxr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.122 | DCXR | Bryony Thompson Classified gene: DCXR as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.122 | DCXR | Bryony Thompson Added comment: Comment on list classification: Clinically benign condition | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.122 | DCXR | Bryony Thompson Gene: dcxr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.121 | DCXR |
Bryony Thompson gene: DCXR was added gene: DCXR was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: DCXR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCXR were set to 22042873 Phenotypes for gene: DCXR were set to Pentosuria MIM#260800; Disorders of pentose metabolism Review for gene: DCXR was set to GREEN Added comment: At least 9 Ashkenazi Jewish probands reported. The condition is clinically benign Sources: NHS GMS |
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