Gastrointestinal neuromuscular disorders
Gene: TMEM70
Comment on list classification: Clinical synopsis for phenotype 614052 (Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2) includes pseudo obstruction. This is a green gene on the mitochondrial panel Version 1.14 and ID panel Version 1.8. It is a confirmed DD gene for Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2. Around 15 family reports in OMIM.Created: 19 Oct 2016, 9:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.
This gene has been classified as Green List (High Evidence).
Phenotypes for TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052
TMEM70 was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
TMEM70 was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Emory Genetics Laboratory
TMEM70 was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Radboud University Medical Center, Nijmegen
TMEM70 was created by sleigh
TMEM70 was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: UKGTN