Inherited white matter disorders
Gene: RNASEH2CComment on list classification: Gene rated green and diagnostic-grade by expert reviewer, and is a confirmed DD gene for AICARDI-GOUTIERES SYNDROME 3. Two variants reported in OMIM, one in multiple consanguineous Pakistani families, the other in a consanguineous Bangladeshi family. A publication search revealed a third variant reported in two brothers (parents were heterozygous) - PMID: 27411419. 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, 7:07 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 RNASEH2C were set to Aicardi-Goutieres Syndrome 3; General Leukodystrophy & Mitochondrial Leukoencephalopathy
This gene has been classified as Green List (High Evidence).
Publications for RNASEH2C were set to 25655951; 27411419
RNASEH2C was created by [email protected]
RNASEH2C was added to Inherited white matter disorderspanel. Sources: Expert list