Hypertrophic 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
Rebecca Whittington (South West GLH)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 (614052)Created: 25 Mar 2019, 4:30 p.m.
DOI: 10.1016/j.ymgme.2014.01.001 - HCM key feature of AR disease.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- South West GLH
- Expert list
- Phenotypes
-
- syndromic HCM
- OMIM
- 612418
- Clinvar variants
- Variants in TMEM70
- Penetrance
- Complete
- Panels with this gene
-
- DDG2P
- Mitochondrial Complex V deficiency, TMEM70 type
- Undiagnosed metabolic disorders
- Gastrointestinal neuromuscular disorders
- Childhood onset dystonia, chorea or related movement disorder
- Hyperammonaemia
- Fetal anomalies
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Paediatric or syndromic cardiomyopathy
- Hypertrophic cardiomyopathy
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorder with complex V deficiency
History Filter Activity
21 Feb 2019, Gel status: 1
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to TMEM70. Mode of inheritance for gene TMEM70 was changed from to BIALLELIC, autosomal or pseudoautosomal
13 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)TMEM70 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list