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
-
- Bilateral congenital or childhood onset cataracts
- DDG2P
- Undiagnosed metabolic disorders
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial Complex V deficiency, TMEM70 type
- Intellectual disability
- Gastrointestinal neuromuscular disorders
- Hyperammonaemia
- Likely inborn error of metabolism
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Hypertrophic cardiomyopathy
- 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