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| Likely inborn error of metabolism - targeted testing not possible 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 - targeted testing not possible 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 - targeted testing not possible 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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