Hypertrophic cardiomyopathy - teen and adult

Gene: TMEM70

Red List (low evidence)

TMEM70 (transmembrane protein 70)
EnsemblGeneIds (GRCh38): ENSG00000175606
EnsemblGeneIds (GRCh37): ENSG00000175606
OMIM: 612418, Gene2Phenotype
TMEM70 is in 16 panels

2 reviews

Rebecca Whittington (South West GLH)

I don't know

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)

I don't know

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