Genes in panel
STRs in panel
Prev Next

Inborn errors of metabolism

Gene: KHK

Red List (low evidence)

KHK (ketohexokinase)
EnsemblGeneIds (GRCh38): ENSG00000138030
EnsemblGeneIds (GRCh37): ENSG00000138030
OMIM: 614058, Gene2Phenotype
KHK is in 2 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Non-pathogenic phenotype
Created: 23 Feb 2017, 5:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Essential fructosuria (Disorders of fructose metabolism)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Essential fructosuria (Disorders of fructose metabolism)
OMIM
614058
Clinvar variants
Variants in KHK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to KHK. Source London North GLH was added to KHK.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: KHK was added gene: KHK was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: KHK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KHK were set to 27604308 Phenotypes for gene: KHK were set to Essential fructosuria (Disorders of fructose metabolism)