Hyperammonaemia
Gene: ATPAF2Comment on phenotypes: Phenotype relevant according to Peter Clayton (UCL Institute of Child Health)Created: 22 Nov 2016, 9:40 a.m.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Only one variant reportedCreated: 18 Aug 2016, 1:37 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.
With neonatal hypotonia lactic acidosisCreated: 5 Nov 2015, 4:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Complex V (ATPsynthase deficiency)
Promoted to version 1 on 22nd November 2016
Phenotypes for ATPAF2 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 604273
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for ATPAF2 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 604273
Mode of inheritance for ATPAF2 was changed to BIALLELIC, autosomal or pseudoautosomal
ATPAF2 was added to Hyperammonaemiapanel. Sources: Radboud University Medical Center, Nijmegen
ATPAF2 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory