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Monogenic hearing loss v6.30 TIMM8A Ida Ertmanska Phenotypes for gene: TIMM8A were changed from #304700:Mohr-Tranebjaerg syndrome; hearing loss; Deafness, X-linked 1, progressive to Mohr-Tranebjaerg syndrome, OMIM:304700; deafness dystonia syndrome, MONDO:0010578
Monogenic hearing loss v6.29 TIMM8A Ida Ertmanska Publications for gene: TIMM8A were set to PMID: 10051608; 10878669; 11405816; 11601506; 11875042; 11956200; 15037720; 15254020; 15710860; 16411215; 8380905; 8841189
Monogenic hearing loss v6.28 TIMM8A Ida Ertmanska Tag Q3_26_MOI tag was added to gene: TIMM8A.
Monogenic hearing loss v6.28 TIMM8A Ida Ertmanska commented on gene: TIMM8A: Comment on mode of inheritance: As there are at least 3 unrelated symptomatic females (1 presenting with deafness) 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).
Monogenic hearing loss v6.28 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)
Monogenic hearing loss v2.45 TIMM8A Arina Puzriakova reviewed gene: TIMM8A: Rating: ; Mode of pathogenicity: None; Publications: 32820032; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females