| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.311 | DHTKD1 | Bryony Thompson Marked gene: DHTKD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.311 | DHTKD1 | Bryony Thompson Gene: dhtkd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.311 | DHTKD1 | Bryony Thompson Classified gene: DHTKD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.311 | DHTKD1 | Bryony Thompson Gene: dhtkd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.310 | DHTKD1 |
Bryony Thompson gene: DHTKD1 was added gene: DHTKD1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: DHTKD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHTKD1 were set to 27604308; 23141293; 29661920; 25860818 Phenotypes for gene: DHTKD1 were set to 2-aminoadipic 2-oxoadipic aciduria MIM#204750; Disorders of histidine, tryptophan or lysine metabolism Review for gene: DHTKD1 was set to GREEN Added comment: >10 cases with biallelic variants reported and null mouse model has severe metabolic abnormalities Sources: NHS GMS |
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