Activity
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6 actions
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| Likely inborn error of metabolism v9.9 | USMG5 | Ida Ertmanska Classified gene: USMG5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.9 | USMG5 | Ida Ertmanska Gene: usmg5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.8 | USMG5 | Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: USMG5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.8 | USMG5 | Ida Ertmanska commented on gene: USMG5: Added new-gene-name tag, new approved HGNC gene symbol for USMG5 is ATP5MK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.8 | USMG5 | Ida Ertmanska commented on gene: USMG5: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.8 | USMG5 |
Ida Ertmanska gene: USMG5 was added gene: USMG5 was added to Likely inborn error of metabolism. Sources: Literature new-gene-name tags were added to gene: USMG5. Mode of inheritance for gene: USMG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USMG5 were set to 21345788; 29903433; 29917077; 30240627; 40014158 Phenotypes for gene: USMG5 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6, OMIM:618683; mitochondrial respiratory chain complex deficiency, MONDO:0000066 Review for gene: USMG5 was set to GREEN Added comment: 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 29917077 Barca et al., 2018 Homozygous founder variant (NM_032747.3 c.87+1G>C) reported in three unrelated Ashkenazi Jewish families (allele freq 0.57% in Ashkenazi Jewish populations). Supportive functional studies are also reported: USMG5 mutated fibroblasts have reduced ATP synthesis. Transfection with wild-type USMG5 rescues CV dimerization and ATP production. 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). Sources: Literature |
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