Inherited white matter disorders
Gene: SDHAF1Comment when marking as ready: Gene rated green and diagnostic-grade by expert reviewer. Associated with phenotype in OMIM and G2P. At least four homozygous variants reported. 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: 24 Aug 2016, 2:28 p.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 Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for SDHAF1 were set to 25655951; 19465911; 22995659
Publications for SDHAF1 were set to 25655951
Phenotypes for SDHAF1 were set to Mitochondrial complex II deficiency 252011
SDHAF1 was added to Inherited white matter disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
SDHAF1 was created by [email protected]
SDHAF1 was added to Inherited white matter disorderspanel. Sources: Expert list