Leukodystrophy - adult onset
Gene: TACO1

TACO1 (translational activator of cytochrome c oxidase I)
EnsemblGeneIds (GRCh38): ENSG00000136463
EnsemblGeneIds (GRCh37): ENSG00000136463
OMIM: 612958, Gene2Phenotype
TACO1 is in 8 panels

1 review

Seb Lunke (Victorian Clinical Genetics Services)

Red List (low evidence)

50yo female with hom c.676G>T (p.Glu226Ter) variant. Onset of slowly progressive spastic gait and mild cognitive impairment in her 30s. 24yo carrier daughter healthy.

Live imaging microscopy in primary fibroblasts showed a mild reduction of optic atrophy gene 1 long forms, which are the active mediators of mitochondrial fusion (figure 1C), however mitochondrial network morphology was comparable to controls, with the highest percentage of cells showing fused and interconnected organelles.
Sources: Literature
Created: 8 Jul 2021, 4:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy, adult onset

Publications

33709035

Created: 8 Jul 2021, 4:33 a.m.

Panel version: 0.87

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Literature

Phenotypes

Leukoencephalopathy, adult onset

OMIM

612958

Clinvar variants

Variants in TACO1

Penetrance

None

Publications

33709035

Panels with this gene

History Filter Activity

8 Jul 2021, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: taco1 has been classified as Red List (Low Evidence).

8 Jul 2021, Gel status: 1

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