This Panel is marked as Deleted
Mitochondrial disorders Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 612418
- Clinvar variants
- Variants in TMEM70
- Penetrance
- None
- Panels with this gene
-
- Mitochondrial Complex V deficiency, TMEM70 type
- Undiagnosed metabolic disorders
- Intellectual disability
- Gastrointestinal neuromuscular disorders
- Hyperammonaemia
- Childhood onset dystonia, chorea or related movement disorder
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Hypertrophic cardiomyopathy
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Mitochondrial disorder with complex V deficiency
- Possible mitochondrial disorder - nuclear genes
- Likely inborn error of metabolism
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)TMEM70 was added to Mitochondrial disorders Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)TMEM70 was created by Sarah Leigh