Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Mitochondrial disease

Gene: USMG5

Amber List (moderate evidence)

USMG5 (up-regulated during skeletal muscle growth 5 homolog (mouse))
EnsemblGeneIds (GRCh38): ENSG00000173915
EnsemblGeneIds (GRCh37): ENSG00000173915
OMIM: 615204, Gene2Phenotype
USMG5 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

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 GMS
Created: 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

19 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: usmg5 has been classified as Amber List (Moderate Evidence).

19 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: usmg5 has been classified as Amber List (Moderate Evidence).

19 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: usmg5 has been classified as Amber List (Moderate Evidence).

19 Mar 2020, Gel status: 1

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