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Mitochondrial Complex V deficiency, TMEM70 type
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
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #614052) and the OMIM record was last accessed on 20 December 2025.Created: 20 Dec 2025, 8:35 p.m. | Last Modified: 20 Dec 2025, 8:35 p.m.
Panel Version: 1.2
TMEM70 has been added to the panel for R396 Mitochondrial Complex V deficiency, TMEM70 type with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 2:29 p.m. | Last Modified: 30 Jun 2023, 2:29 p.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, OMIM:614052
- mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MONDO:0013546
- OMIM
- 612418
- Clinvar variants
- Variants in TMEM70
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Early onset or syndromic epilepsy
- Mitochondrial Complex V deficiency, TMEM70 type
- Gastrointestinal neuromuscular disorders
- Hyperammonaemia
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Mitochondrial disorders
- Intellectual disability
- Hypertrophic cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorder with complex V deficiency
- Fetal anomalies
- Bilateral congenital or childhood onset cataracts
History Filter Activity
20 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: TMEM70 were changed from to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, OMIM:614052; mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MONDO:0013546
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: TMEM70 was added gene: TMEM70 was added to Mitochondrial Complex V deficiency, TMEM70 type. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal