Mitochondrial disorders
Gene: USMG5Added new-gene-name tag, new approved HGNC gene symbol for USMG5 is ATP5MKCreated: 23 Feb 2021, 4:20 p.m. | Last Modified: 23 Feb 2021, 4:20 p.m.
Panel Version: 2.19
Homozygouse founder variant (NM_032747.3 c.87+1G>C) reported in three unrelated Ashkenazi Jewish families (allele freq 0.57% in Ashkenazi Jewish populations). Not associated with phenotype in OMIM or in Gen2Phen. Supportive functional studies are also reported (PMID 29917077). The GMS mitochondrial specialist test group should be consultated on this gene and the founder variants (comment from Anna de Burca, Genomics England Clinical Fellow).Created: 5 Aug 2019, 10:38 a.m. | Last Modified: 5 Aug 2019, 1:51 p.m.
Panel Version: 1.455
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive Leigh syndrome
Publications
Tag new-gene-name tag was added to gene: USMG5.
Tag founder-effect tag was added to gene: USMG5.
Phenotypes for gene: USMG5 were changed from to Autosomal recessive Leigh syndrome
Publications for gene: USMG5 were set to
gene: USMG5 was added gene: USMG5 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: USMG5 was set to