Mitochondrial disease
Gene: GMPR
GMPR (guanosine monophosphate reductase)
EnsemblGeneIds (GRCh38): ENSG00000137198
EnsemblGeneIds (GRCh37): ENSG00000137198
OMIM: 139265, Gene2Phenotype
GMPR is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000137198
EnsemblGeneIds (GRCh37): ENSG00000137198
OMIM: 139265, Gene2Phenotype
GMPR is in 1 panel
1 review
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Insufficient evidence currently.Created: 19 Apr 2020, 7:37 a.m. | Last Modified: 19 Apr 2020, 7:37 a.m.
Panel Version: 0.436
A heterozygous missense was identified in a case with late-onset adPEO and multiple mtDNA deletions in the cases skeletal muscle. GMPR deficiency was confirmed, but marked defects of mtDNA replication or nucleotide homeostasis was not demonstrated in patient cells. No other functional assays conducted.
Sources: LiteratureCreated: 19 Apr 2020, 7:36 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
progressive external ophthalmoplegia
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- progressive external ophthalmoplegia
- OMIM
- 139265
- Clinvar variants
- Variants in GMPR
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
23 Apr 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gmpr has been classified as Red List (Low Evidence).
19 Apr 2020, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: gmpr has been classified as Red List (Low Evidence).
19 Apr 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: GMPR was added gene: GMPR was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: GMPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GMPR were set to 31600844 Phenotypes for gene: GMPR were set to progressive external ophthalmoplegia Review for gene: GMPR was set to AMBER