Inherited white matter disorders
Gene: RNASET2

RNASET2 (ribonuclease T2)
EnsemblGeneIds (GRCh38): ENSG00000026297
EnsemblGeneIds (GRCh37): ENSG00000026297
OMIM: 612944, Gene2Phenotype
RNASET2 is in 11 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment 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.

Created: 24 Aug 2016, 1:01 p.m.

Panel version: 0.356

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy

Publications

Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_633

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Aug 2016, 2:36 p.m.

Panel version: 0.106

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Expert Review Green

Phenotypes

Leukoencephalopathy, cystic, without megalencephaly 612951

OMIM

612944

Clinvar variants

Variants in RNASET2

Penetrance

Complete

Publications

25655951

Panels with this gene

History Filter Activity

6 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

24 Aug 2016, Gel status: 4