Mitochondrial disease
Gene: USMG5EnsemblGeneIds (GRCh38): ENSG00000173915
EnsemblGeneIds (GRCh37): ENSG00000173915
OMIM: 615204, Gene2Phenotype
USMG5 is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Currently only one potential Ashkenazi Jewish founder reported so far.Created: 19 Mar 2020, 5:11 a.m. | Last Modified: 19 Mar 2020, 5:11 a.m.
Panel Version: 0.207
Comment on list classification: Currently only one potential Ashkenazi Jewish founder reported so far.Created: 19 Mar 2020, 5:10 a.m. | Last Modified: 19 Mar 2020, 5:10 a.m.
Panel Version: 0.207
A homozygous splice site mutation in 4 patients from 3 unrelated families of Ashkenazi Jewish descent. Experimental analyses demonstrated that the splice variant leads to loss of protein expression and haplotype analysis suggested a founder effect. In situ cryo-ET analysis of the mitochondria of a homozygous affected case showed profound disturbances of mitochondrial crista ultrastructure.
Sources: NHS GMSCreated: 19 Mar 2020, 5:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- Phenotypes
-
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683
- OMIM
- 615204
- Clinvar variants
- Variants in USMG5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: usmg5 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: usmg5 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: usmg5 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: USMG5 was added gene: USMG5 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: USMG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USMG5 were set to 29917077; 30240627 Phenotypes for gene: USMG5 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683 Review for gene: USMG5 was set to AMBER