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Mitochondrial disorders v10.8 USMG5 Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: USMG5.
Mitochondrial disorders v10.8 USMG5 Ida Ertmanska Classified gene: USMG5 as Amber List (moderate evidence)
Mitochondrial disorders v10.8 USMG5 Ida Ertmanska Added comment: Comment on list classification: There are 2 unrelated families reported in literature where biallelic USMG5 (ATP5MK) variants are shown to cause mitochondrial disease. In addition, functional evidence shows that ATP5MK knockdown leads to loss of ATP synthase in mitochondria. Taken together, there is enough evidence to promote this gene to Green at the next update.
Mitochondrial disorders v10.8 USMG5 Ida Ertmanska Gene: usmg5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v10.7 USMG5 Ida Ertmanska Phenotypes for gene: USMG5 were changed from Autosomal recessive Leigh syndrome to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6, OMIM:618683; mitochondrial respiratory chain complex deficiency, MONDO:0000066
Mitochondrial disorders v10.6 USMG5 Ida Ertmanska Publications for gene: USMG5 were set to 29903433; 29917077; 30240627
Mitochondrial disorders v10.5 USMG5 Ida Ertmanska Mode of inheritance for gene: USMG5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v10.4 USMG5 Ida Ertmanska Tag founder-effect was removed from gene: USMG5.
Mitochondrial disorders v10.4 USMG5 Ida Ertmanska changed review comment from: PMID: 40014158 İpek et al. 2025
4 brothers affected by mitochondrial disease, aged 13-25 yrs. All 4 had istory of neurodegenerative disease, exhibited intellectual disability, muscle weakness, increased deep tendon reflexes in the lower extremities, spasticity, scoliosis, pes cavus deformity, positive Babinski reflex, abnormal gait patterns due to foot deformities, and normal cerebellar tests. Additional findings included geographic tongue (n = 2), strabismus (n = 2), nystagmus (n = 1), ophthalmoplegia (n = 2), hypertrophic upper extremity muscle body build (n = 2), keloid tissue (n = 1), and short stature (n = 3). ES identified a homozygous splice donor variant (c.87+1G > A) in the ATP5MK gene. Unaffected parents were het for the variant. The c.87+1G > A variant has 16 alleles reported in gnomAD, no homozygotes.


PMID: 21345788 Ohsakaya et al., 2011
Knockdown of USMG5 (ATP5MK) in HeLa cells results in loss of ATP synthase in mitochondria.

ATP5MK association with AR Leigh syndrome has been classified as Moderate in ClinGen (Mitochondrial Diseases GCEP, Aug 2020).; to: PMID: 40014158 İpek et al. 2025
4 Turkish brothers affected by mitochondrial disease, aged 13-25 yrs. All 4 had history of neurodegenerative disease, exhibited intellectual disability, muscle weakness, increased deep tendon reflexes in the lower extremities, spasticity, scoliosis, pes cavus deformity, positive Babinski reflex, abnormal gait patterns due to foot deformities, and normal cerebellar tests. Additional findings included geographic tongue (n = 2), strabismus (n = 2), nystagmus (n = 1), ophthalmoplegia (n = 2), hypertrophic upper extremity muscle body build (n = 2), keloid tissue (n = 1), and short stature (n = 3). ES identified a homozygous splice donor variant (c.87+1G > A) in the ATP5MK gene. Unaffected parents were het for the variant. The c.87+1G > A variant has 16 alleles reported in gnomAD, no homozygotes.

PMID: 21345788 Ohsakaya et al., 2011
Knockdown of USMG5 (ATP5MK) in HeLa cells results in loss of ATP synthase in mitochondria.

ATP5MK association with AR Leigh syndrome has been classified as Moderate in ClinGen (Mitochondrial Diseases GCEP, Aug 2020).
Mitochondrial disorders v10.4 USMG5 Ida Ertmanska reviewed gene: USMG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 40014158; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6, OMIM:618683, mitochondrial respiratory chain complex deficiency, MONDO:0000066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.19 USMG5 Catherine Snow commented on gene: USMG5
Mitochondrial disorders v2.19 USMG5 Catherine Snow Tag new-gene-name tag was added to gene: USMG5.
Mitochondrial disorders v1.485 USMG5 Sarah Leigh Tag founder-effect tag was added to gene: USMG5.
Mitochondrial disorders v1.485 USMG5 Sarah Leigh edited their review of gene: USMG5: Changed rating: AMBER
Mitochondrial disorders v1.455 USMG5 Sarah Leigh changed review comment from: 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). Comment from Anna de Burca, Genomics England Clinical Fellow: the GMS mitochondrial specialist test group should be consultated on this gene.; to: 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). 
Mitochondrial disorders v1.428 USMG5 Sarah Leigh changed review comment from: 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).; to: 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). Comment from Anna de Burca, Genomics England Clinical Fellow: the GMS mitochondrial specialist test group should be consultated on this gene.
Mitochondrial disorders v1.428 USMG5 Sarah Leigh Phenotypes for gene: USMG5 were changed from to Autosomal recessive Leigh syndrome
Mitochondrial disorders v1.428 USMG5 Sarah Leigh Publications for gene: USMG5 were set to
Mitochondrial disorders v1.423 USMG5 Sarah Leigh reviewed gene: USMG5: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29917077, 30240627; Phenotypes: Autosomal recessive Leigh syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.422 USMG5 Sarah Leigh gene: USMG5 was added
gene: USMG5 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: USMG5 was set to