1. Panels
  2. Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
  3. KYNU
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Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic

Gene: KYNU

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 6 unrelated cases reported with biallelic variants, and a supporting null mouse model
Sources: NHS GMS
Created: 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

Created: 5 Feb 2021, 3:21 a.m.

Panel version: Imported from Mendeliome panel version Imported from Miscellaneous Metabolic Disorders panel version 0.194

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two unrelated individuals plus functional data.
Sources: Expert list
Created: 28 Nov 2019, 5:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 28 Nov 2019, 5:55 a.m.

Panel version: 0.15

Details

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

28 Nov 2019, 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).

28 Nov 2019, 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).

28 Nov 2019, Gel status: 1

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 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list 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, MIM#617661 Review for gene: KYNU was set to GREEN