Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: GUK1EnsemblGeneIds (GRCh38): ENSG00000143774
EnsemblGeneIds (GRCh37): ENSG00000143774
OMIM: 139270, Gene2Phenotype
GUK1 is in 4 panels
2 reviews
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
- Literature
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 21, OMIM:621071
- Tags
- OMIM
- 139270
- Clinvar variants
- Variants in GUK1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_25_NHS_review was removed from gene: GUK1.
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: GUK1 was added gene: GUK1 was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Literature,Expert Review Amber Q3_25_promote_green, Q3_25_NHS_review tags were added to gene: GUK1. Mode of inheritance for gene: GUK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GUK1 were set to 39230499 Phenotypes for gene: GUK1 were set to Mitochondrial DNA depletion syndrome 21, OMIM:621071