Hyperammonaemia
Gene: ATPAF2

ATPAF2 (ATP synthase mitochondrial F1 complex assembly factor 2)
EnsemblGeneIds (GRCh38): ENSG00000171953
EnsemblGeneIds (GRCh37): ENSG00000171953
OMIM: 608918, Gene2Phenotype
ATPAF2 is in 10 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment 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 reported
Created: 18 Aug 2016, 1:37 p.m.

Created: 18 Aug 2016, 1:37 p.m.

Panel version: 0.96

Ellen McDonagh (Genomics England Curator)

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.

Created: 5 Nov 2015, 5:19 p.m.

Panel version: 0

Peter Clayton (UCL Institute of Child Health)

Green List (high evidence)

With neonatal hypotonia lactic acidosis
Created: 5 Nov 2015, 4:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Complex V (ATPsynthase deficiency)

Created: 5 Nov 2015, 4:51 p.m.

Panel version: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory

Phenotypes

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 604273

OMIM

608918

Clinvar variants

Variants in ATPAF2

Penetrance

Complete

Panels with this gene