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Mitochondrial disorders v10.13 TIMM8A Ida Ertmanska Phenotypes for gene: TIMM8A were changed from Disorders of the mitochondrial import system; Deafness, X-linked 1, progressive; Mohr-Tranebjaerg syndrome, 304700; Jensen syndrome, 311150 to Mohr-Tranebjaerg syndrome, OMIM:304700; deafness dystonia syndrome, MONDO:0010578
Mitochondrial disorders v10.12 TIMM8A Ida Ertmanska Publications for gene: TIMM8A were set to
Mitochondrial disorders v10.11 TIMM8A Ida Ertmanska Tag Q3_26_MOI tag was added to gene: TIMM8A.
Mitochondrial disorders v10.11 TIMM8A Ida Ertmanska commented on gene: TIMM8A: Comment on mode of inheritance: As there are at least 3 unrelated symptomatic females reported in literature with heterozygous TIMM8A variants, the MOI should be changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males).
Mitochondrial disorders v10.11 TIMM8A Ida Ertmanska reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 11601506, 22736418, 40597358; Phenotypes: Mohr-Tranebjaerg syndrome, OMIM:304700, deafness dystonia syndrome, MONDO:0010578; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)