Aminoacidopathy
Gene: KYNUEnsemblGeneIds (GRCh38): ENSG00000115919
EnsemblGeneIds (GRCh37): ENSG00000115919
OMIM: 605197, Gene2Phenotype
KYNU is in 7 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
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: ClinGenCreated: 8 Jun 2024, 9:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
vertebral, cardiac, renal, and limb defects syndrome 2 MONDO:0060555
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- vertebral, cardiac, renal, and limb defects syndrome 2 MONDO:0060555
- OMIM
- 605197
- Clinvar variants
- Variants in KYNU
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kynu has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kynu has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)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