Miscellaneous Metabolic Disorders
Gene: KYNUEnsemblGeneIds (GRCh38): ENSG00000115919
EnsemblGeneIds (GRCh37): ENSG00000115919
OMIM: 605197, Gene2Phenotype
KYNU is in 7 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
At least 6 unrelated cases reported with biallelic variants, and a supporting null mouse model
Sources: NHS GMSCreated: 5 Feb 2021, 3:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hydroxykynureninuria MIM#236800; Vertebral, cardiac, renal, and limb defects syndrome 2 MIM#617661; Disorders of histidine, tryptophan or lysine metabolism
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Hydroxykynureninuria MIM#236800
- Vertebral, cardiac, renal, and limb defects syndrome 2 MIM#617661
- Disorders of histidine, tryptophan or lysine metabolism
- OMIM
- 605197
- Clinvar variants
- Variants in KYNU
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: kynu has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: kynu has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)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