Cardiomyopathy_Paediatric
Gene: ATPAF2EnsemblGeneIds (GRCh38): ENSG00000171953
EnsemblGeneIds (GRCh37): ENSG00000171953
OMIM: 608918, Gene2Phenotype
ATPAF2 is in 6 panels
1 review
Chirag Patel (Genetic Health Queensland)
A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years.
De Meirleir et al. (2004) identified homozygosity for a missense mutation in the ATPAF2 gene (W94R), in a female infant with decreased complex V activity, The consanguineous Moroccan parents and a healthy sib were heterozygous for the mutation, which was not found in 50 healthy Moroccan controls.Created: 19 May 2022, 11:34 p.m. | Last Modified: 19 May 2022, 11:34 p.m.
Panel Version: 0.128
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, OMIM# 604273
Publications
- PMID: 14757859
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- MetBioNet
- NHS GMS
- Phenotypes
-
- ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
- OMIM
- 608918
- Clinvar variants
- Variants in ATPAF2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atpaf2 has been classified as Red List (Low Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ATPAF2 were set to
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: atpaf2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ATPAF2 was added gene: ATPAF2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: ATPAF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATPAF2 were set to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273