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| Aminoacidopathy v1.61 | KYNU | Zornitza Stark Marked gene: KYNU as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.61 | KYNU | Zornitza Stark Gene: kynu has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.61 | KYNU | Zornitza Stark Classified gene: KYNU as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.61 | KYNU | Zornitza Stark Gene: kynu has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.59 | KYNU | Sangavi Sivagnanasundram edited their review of gene: KYNU: Changed publications: 37499065, 28792876, 33942433, 31923704, 17334708, 34200361 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.59 | KYNU |
Sangavi Sivagnanasundram gene: KYNU was added gene: KYNU was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KYNU were set to 37499065, 28792876, 33942433, 31923704, 17334708, 34200361 Phenotypes for gene: KYNU were set to vertebral, cardiac, renal, and limb defects syndrome 2 MONDO:0060555 Review for gene: KYNU was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 12/05/2023 - https://search.clinicalgenome.org/CCID:005259 Reported in >5 unrelated probands with an error in synthesis of NAD from tryptophan. Mouse model recapitulates human phenotype while on a NAD-restricted diet. Sources: ClinGen |
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