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| Miscellaneous Metabolic Disorders v0.195 | KYNU | Bryony Thompson Marked gene: KYNU as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.195 | KYNU | Bryony Thompson Gene: kynu has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.195 | KYNU | Bryony Thompson Classified gene: KYNU as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.195 | KYNU | Bryony Thompson Gene: kynu has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.194 | KYNU |
Bryony Thompson gene: KYNU was added gene: KYNU was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KYNU were set to 17334708; 28792876; 31923704 Phenotypes for gene: KYNU were set to Hydroxykynureninuria MIM#236800; Vertebral, cardiac, renal, and limb defects syndrome 2 MIM#617661; Disorders of histidine, tryptophan or lysine metabolism Review for gene: KYNU was set to GREEN Added comment: At least 6 unrelated cases reported with biallelic variants, and a supporting null mouse model Sources: NHS GMS |
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