Activity
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| Likely inborn error of metabolism v9.26 | TIMM8A | Ida Ertmanska Phenotypes for gene: TIMM8A were changed from Mohr-Tranebjaerg syndrome, 304700; Jensen syndrome, 311150; Disorders of the mitochondrial import system; Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Deafness, X-linked 1, progressive to Mohr-Tranebjaerg syndrome, OMIM:304700; deafness dystonia syndrome, MONDO:0010578 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.25 | TIMM8A | Ida Ertmanska Publications for gene: TIMM8A were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.24 | TIMM8A | Ida Ertmanska Tag Q3_26_MOI tag was added to gene: TIMM8A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.24 | 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.24 | 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.47 | TIMM8A |
Ivone Leong Source NHS GMS was added to TIMM8A. Source London North GLH was added to TIMM8A. |
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| Likely inborn error of metabolism v0.4 | TIMM8A |
Ellen McDonagh Added phenotypes Mohr-Tranebjaerg syndrome, 304700; Jensen syndrome, 311150; Disorders of the mitochondrial import system; Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Deafness, X-linked 1, progressive for gene: TIMM8A Publications for gene TIMM8A were changed from to 27604308 |
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| Likely inborn error of metabolism v0.4 | TIMM8A |
Ellen McDonagh gene: TIMM8A was added gene: TIMM8A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TIMM8A were set to Mohr-Tranebjaerg syndrome, 304700; Jensen syndrome, 311150; Disorders of the mitochondrial import system; Deafness, X-linked 1, progressive |
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