Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 18 Aug 2016, 2:21 p.m.
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.
Created: 5 Nov 2015, 5:19 p.m.
Promoted to version 1 on 22nd November 2016
This gene has been classified as Green List (High Evidence).
Publications for TMEM70 were set to 26550569; 24740313; 21147908
Publications for TMEM70 were set to 26550569; 24740313
TMEM70 was added to Hyperammonaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Mode of inheritance for TMEM70 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052
TMEM70 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory