Inherited white matter disorders
Gene: ATPAF2Comment on list classification: Only 1 family reported but green on mitochondrial panel. Leave as amber here for now until decision re mt panel.Created: 6 Oct 2016, 9:27 a.m.
Comment on list classification: Rated green and diagnostic-grade by expert reviewer, however only one case found in the literature (PMID: 14757859). On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.
Created: 12 Aug 2016, 11:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for ATPAF2 were set to 14757859; 25655951;21815885 (no variants identified)
Phenotypes for ATPAF2 were set to Mitochondrial Leukoencephalopathy;Mitochondrial complex V disorders;General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications for ATPAF2 were set to 14757859; 25655951
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
ATPAF2 was created by [email protected]
ATPAF2 was added to Inherited white matter disorderspanel. Sources: Expert list