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Mendeliome

Gene: ATPAF2

Red List (low evidence)

ATPAF2 (ATP synthase mitochondrial F1 complex assembly factor 2)
EnsemblGeneIds (GRCh38): ENSG00000171953
EnsemblGeneIds (GRCh37): ENSG00000171953
OMIM: 608918, Gene2Phenotype
ATPAF2 is in 6 panels

2 reviews

Krithika Murali (Victorian Clinical Genetics Services)

Red List (low evidence)

Synonyms - ATP12

PMID 14757859 - report 2 unrelated patients with mitochondrial encephalomyopathies. Homozygous W94R variant identified in one child from a consanguineous family. This is the only pathogenic SNV in ClinVar with predominantly VUS reported.
Created: 19 May 2022, 11:48 p.m. | Last Modified: 19 May 2022, 11:48 p.m.
Panel Version: 0.14651

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 - MIM#604273

Publications

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

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.

One case only.
Created: 19 May 2022, 11:36 p.m. | Last Modified: 19 May 2022, 11:36 p.m.
Panel Version: 0.14647

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, OMIM# 604273

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
OMIM
608918
Clinvar variants
Variants in ATPAF2
Penetrance
None
Panels with this gene

History Filter Activity

20 May 2022, Gel status: 1

Set mode of inheritance

Elena Savva (Victorian Clinical Genetics Services)

Mode of inheritance for gene: ATPAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

20 May 2022, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: atpaf2 has been classified as Red List (Low Evidence).

19 May 2022, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: atpaf2 has been classified as Red List (Low Evidence).

19 May 2022, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: atpaf2 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATPAF2 was added gene: ATPAF2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ATPAF2 was set to Unknown