Mitochondrial disorders
Gene: GUK1EnsemblGeneIds (GRCh38): ENSG00000143774
EnsemblGeneIds (GRCh37): ENSG00000143774
OMIM: 139270, Gene2Phenotype
GUK1 is in 4 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: OMIM phenotype last accessed on 28 October 2025.Created: 28 Oct 2025, 3:15 p.m. | Last Modified: 28 Oct 2025, 3:15 p.m.
Panel Version: 9.36
Arina Puzriakova (Genomics England Curator)
Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - 4 individuals from 3 unrelated families with biallelic variants leading to GUK1 deficiency. Muscle biopsies showed mtDNA depletion and/or deletions and reduced activities of mitochondrial respiratory chain enzymes.Created: 29 Aug 2025, 4:03 p.m. | Last Modified: 29 Aug 2025, 4:03 p.m.
Panel Version: 9.26
Hannah Knight (NIHR BioResource - University of Cambridge)
Four patients from three families reported with mitochondrial disorders and biallelic GUK1 variants. Different variants in all three families.
Key symptoms include ptosis, ophthalmoparesis, and myopathic proximal limb weakness, as well as variable hepatopathy
Sources: LiteratureCreated: 22 Jul 2025, 9:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 21
Publications
- PMID: 39230499
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 21, OMIM:621071
- mitochondrial dna depletion syndrome 21, MONDO:0976132
- Tags
- OMIM
- 139270
- Clinvar variants
- Variants in GUK1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: GUK1 were changed from Mitochondrial DNA depletion syndrome 21, OMIM:621071 to Mitochondrial DNA depletion syndrome 21, OMIM:621071; mitochondrial dna depletion syndrome 21, MONDO:0976132
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: guk1 has been classified as Amber List (Moderate Evidence).
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_25_promote_green tag was added to gene: GUK1. Tag Q3_25_NHS_review tag was added to gene: GUK1.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: GUK1 were set to PMID: 39230499
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GUK1 were changed from Mitochondrial DNA depletion syndrome 21 to Mitochondrial DNA depletion syndrome 21, OMIM:621071
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Hannah Knight (NIHR BioResource - University of Cambridge)gene: GUK1 was added gene: GUK1 was added to Mitochondrial disorders. Sources: Literature Mode of inheritance for gene: GUK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GUK1 were set to PMID: 39230499 Phenotypes for gene: GUK1 were set to Mitochondrial DNA depletion syndrome 21 Review for gene: GUK1 was set to GREEN