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  3. ATPAF2
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White matter disorders and cerebral calcification - narrow panel

Gene: ATPAF2

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Mitochondrial complex V disorders
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Mitochondrial Leukoencephalopathy
OMIM
608918
Clinvar variants
Variants in ATPAF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ATPAF2 was added gene: ATPAF2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: ATPAF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATPAF2 were set to 25655951; 14757859; 21815885 (no variants identified) Phenotypes for gene: ATPAF2 were set to Mitochondrial complex V disorders; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial Leukoencephalopathy