Miscellaneous Metabolic Disorders
Gene: KHKEnsemblGeneIds (GRCh38): ENSG00000138030
EnsemblGeneIds (GRCh37): ENSG00000138030
OMIM: 614058, Gene2Phenotype
KHK is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Likely a clinically benign conditionCreated: 8 Feb 2021, 5:32 a.m. | Last Modified: 8 Feb 2021, 5:32 a.m.
Panel Version: 0.328
Single family with a non-pathogenic phenotype and a supporting mouse model
Sources: LiteratureCreated: 8 Feb 2021, 5:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fructosuria MIM#229800; Disorders of fructose metabolism
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Fructosuria MIM#229800
- Disorders of fructose metabolism
- OMIM
- 614058
- Clinvar variants
- Variants in KHK
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: khk has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: khk has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: KHK was added gene: KHK was added to Miscellaneous Metabolic Disorders. Sources: Literature Mode of inheritance for gene: KHK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KHK were set to 7833921; 27604308; 29870677 Phenotypes for gene: KHK were set to Fructosuria MIM#229800; Disorders of fructose metabolism Review for gene: KHK was set to AMBER