Leukodystrophy - paediatric
Gene: ATPAF2
ATPAF2 (ATP synthase mitochondrial F1 complex assembly factor 2)
EnsemblGeneIds (GRCh38): ENSG00000171953
EnsemblGeneIds (GRCh37): ENSG00000171953
OMIM: 608918, Gene2Phenotype
ATPAF2 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000171953
EnsemblGeneIds (GRCh37): ENSG00000171953
OMIM: 608918, Gene2Phenotype
ATPAF2 is in 6 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A homozygous missense variant identified in a single case diagnosed with mitochondrial encephalomyopathy, with white matter mypoplasia as one of the neurological features. No functional assays of the variant were conducted.
Sources: Expert listCreated: 18 Jan 2020, 2:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- 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
18 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ATPAF2 was added gene: ATPAF2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: ATPAF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATPAF2 were set to 14757859 Phenotypes for gene: ATPAF2 were set to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 Review for gene: ATPAF2 was set to RED