Possible mitochondrial disorder - nuclear genes
Gene: TMEM70
TMEM70 (transmembrane protein 70)
EnsemblGeneIds (GRCh38): ENSG00000175606
EnsemblGeneIds (GRCh37): ENSG00000175606
OMIM: 612418, Gene2Phenotype
TMEM70 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000175606
EnsemblGeneIds (GRCh37): ENSG00000175606
OMIM: 612418, Gene2Phenotype
TMEM70 is in 16 panels
2 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 V (ATP synthase) deficiency, nuclear type 2, 614052
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
- OMIM
- 612418
- Clinvar variants
- Variants in TMEM70
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial Complex V deficiency, TMEM70 type
- Undiagnosed metabolic disorders
- Gastrointestinal neuromuscular disorders
- Hyperammonaemia
- Early onset or syndromic epilepsy
- Mitochondrial disorders
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Possible mitochondrial disorder - nuclear genes
- Hypertrophic cardiomyopathy
- Fetal anomalies
- DDG2P
- Mitochondrial disorder with complex V deficiency
History Filter Activity
4 Feb 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TMEM70 was added gene: TMEM70 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052