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Mendeliome

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

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: Literature
Created: 1 Mar 2023, 11:29 p.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
  • Literature
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

2 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

2 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

1 Mar 2023, 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 Mendeliome. Sources: Literature 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