Leukodystrophy - adult onset

Gene: TACO1

Red List (low evidence)

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

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
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

Seb Lunke (Victorian Clinical Genetics Services)

gene: TACO1 was added gene: TACO1 was added to Leukodystrophy - adult onset. Sources: Literature Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TACO1 were set to 33709035 Phenotypes for gene: TACO1 were set to Leukoencephalopathy, adult onset Review for gene: TACO1 was set to RED