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Fetal anomalies

Gene: KYNU

Green List (high evidence)

KYNU (kynureninase)
EnsemblGeneIds (GRCh38): ENSG00000115919
EnsemblGeneIds (GRCh37): ENSG00000115919
OMIM: 605197, Gene2Phenotype
KYNU is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple congenital anomalies.
Created: 6 Dec 2019, 1:40 a.m. | Last Modified: 13 Jan 2022, 6:46 a.m.
Panel Version: 0.2047

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Vertebral, cardiac, renal, and limb defects syndrome 2, MIM#617661

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Vertebral, cardiac, renal, and limb defects syndrome 2 , MIM#617661
OMIM
605197
Clinvar variants
Variants in KYNU
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kynu has been classified as Green List (High Evidence).

13 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KYNU were changed from Vertebral, cardiac, renal, and limb defects syndrome 2 617661 to Vertebral, cardiac, renal, and limb defects syndrome 2 , MIM#617661

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KYNU was added gene: KYNU was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KYNU were set to 28792876 Phenotypes for gene: KYNU were set to Vertebral, cardiac, renal, and limb defects syndrome 2 617661