BabyScreen+ newborn screening
Gene: TIMM8A

TIMM8A (translocase of inner mitochondrial membrane 8A)
EnsemblGeneIds (GRCh38): ENSG00000126953
EnsemblGeneIds (GRCh37): ENSG00000126953
OMIM: 300356, Gene2Phenotype
TIMM8A is in 15 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

I don't know

Strong gene disease association
Prelingual or postlingual sensorineural hearing impairment in early childhood, slowly progressive dystonia or ataxia in the teens, slowly progressive decreased visual acuity from optic atrophy beginning at approximately age 20 years, and dementia beginning at approximately age 40 years.
Although we are including hearing loss, this feels a bit like the other condition we vetoed because the other parts of it were significant and untreatable? I think red?
Created: 19 Dec 2022, 4:06 a.m. | Last Modified: 19 Dec 2022, 4:06 a.m.

Panel Version: 0.1530

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

Phenotypes
Mohr-Tranebjaerg syndrome MIM#304700

Publications

PMID: 20301395

Created: 19 Dec 2022, 4:06 a.m.
Last Modified: 19 Dec 2022, 4:06 a.m.
Panel version: 0.1530

Details

Mode of Inheritance

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

Sources

Expert Review Red
BabySeq Category A gene

Phenotypes

Mohr-Tranebjaerg syndrome MIM#304700

OMIM

300356

Clinvar variants

Variants in TIMM8A

Penetrance

None

Publications

20301395

Panels with this gene