Inherited white matter disorders
Gene: SAMHD1Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, and is a confirmed DD gene for AICARDI-GOUTIERES SYNDROME. Multiple families with different variants reported in OMIM. 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, 7:14 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 Green List (High Evidence).
Phenotypes for SAMHD1 were set to Aicardi-Goutieres Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications for SAMHD1 were set to 25655951
This gene has been classified as Green List (High Evidence).
SAMHD1 was added to Inherited white matter disorderspanel. Sources: Expert list
SAMHD1 was created by [email protected]