Possible mitochondrial disorder - nuclear genes
Gene: TACO1EnsemblGeneIds (GRCh38): ENSG00000136463
EnsemblGeneIds (GRCh37): ENSG00000136463
OMIM: 612958, Gene2Phenotype
TACO1 is in 12 panels
3 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, 220110
Carl Fratter (Oxford University Hospitals NHS Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Mitochondrial complex IV deficiency, 220110
- OMIM
- 612958
- Clinvar variants
- Variants in TACO1
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorder with complex IV deficiency
- Inherited white matter disorders
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TACO1 was added gene: TACO1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TACO1 were set to Mitochondrial complex IV deficiency, 220110