Paediatric or syndromic cardiomyopathy
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)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
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. Gene Symbol submitted: TMEM70; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 4 Feb 2019, 10:48 a.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
-
- MetBioNet
- Expert Review Green
- 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
-
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial Complex V deficiency, TMEM70 type
- Gastrointestinal neuromuscular disorders
- Hyperammonaemia
- Intellectual disability
- Fetal anomalies
- DDG2P
- Likely inborn error of metabolism
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
- Hypertrophic cardiomyopathy
- Early onset or syndromic epilepsy
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorder with complex V deficiency
- Bilateral congenital or childhood onset cataracts
History Filter Activity
9 Sep 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TMEM70 was added gene: TMEM70 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet 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