TEST Undiagnosed metabolic disorders
Gene: TIMM8A

TIMM8A (translocase of inner mitochondrial membrane 8A)
EnsemblGeneIds (GRCh38): ENSG00000126953
EnsemblGeneIds (GRCh37): ENSG00000126953
OMIM: 300356, Gene2Phenotype
TIMM8A is in 16 panels

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Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
Literature

OMIM

300356

Clinvar variants

Variants in TIMM8A

Penetrance

None

Publications

27604308

Panels with this gene

History Filter Activity

20 Aug 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications

Sarah Leigh (Genomics England Curator)

gene: TIMM8A was added gene: TIMM8A was added to TEST Undiagnosed metabolic disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TIMM8A were set to 27604308

TEST Undiagnosed metabolic disorders Gene: TIMM8A

0 reviews

Details

History Filter Activity

Created, Added New Source, Set mode of inheritance, Set publications

TEST Undiagnosed metabolic disorders
Gene: TIMM8A