Inherited white matter disorders
Gene: RNASET2Comment when marking as ready: Gene rated green and diagnostic-grade by expert reviewer. Associated with phenotype in OMIM and G2P. At least six 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, 1:01 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.
RNASET2 was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for RNASET2 were set to 25655951
Phenotypes for RNASET2 were set to Leukoencephalopathy, cystic, without megalencephaly 612951
RNASET2 was created by [email protected]
RNASET2 was added to Inherited white matter disorderspanel. Sources: Expert list