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  3. KYNU
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Congenital Heart Defect

Gene: KYNU

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

1 review

Chloe Stutterd (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic, inactivating variants in three genes encoding enzymes of the NAD biosynthesis pathway (KYNU, HAAO, and NADSYN1) disrupt NAD synthesis and have been identified in patients with multiple malformations of the heart, kidney, vertebrae, and limbs; these patients have Congenital NAD Deficiency Disorder (PMID: 33942433)
Sources: Literature, Expert list
Created: 23 Jul 2022, 8:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 23 Jul 2022, 8:03 a.m.

Panel version: 0.239

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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

26 Jul 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).

26 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 Jul 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).

23 Jul 2022, Gel status: 0

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

Chloe Stutterd (Victorian Clinical Genetics Services)

gene: KYNU was added gene: KYNU was added to Congenital Heart Defect. Sources: Literature,Expert list Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KYNU were set to 28792876; 33942433 Phenotypes for gene: KYNU were set to MIM# 617661 Vertebral, cardiac, renal, and limb defects syndrome 2 Review for gene: KYNU was set to GREEN gene: KYNU was marked as current diagnostic