Inherited white matter disorders
Gene: RNASEH2CEnsemblGeneIds (GRCh38): ENSG00000172922
EnsemblGeneIds (GRCh37): ENSG00000172922
OMIM: 610330, Gene2Phenotype
RNASEH2C is in 17 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment 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.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_609
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Aicardi-Goutieres Syndrome 3
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- OMIM
- 610330
- Clinvar variants
- Variants in RNASEH2C
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intracerebral calcification disorders
- Likely inborn error of metabolism
- COVID-19 research
- Undiagnosed metabolic disorders
- Intellectual disability
- Inherited white matter disorders
- Adult onset leukodystrophy
- Fetal anomalies
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Juvenile dermatomyositis
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
History Filter Activity
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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for RNASEH2C were set to Aicardi-Goutieres Syndrome 3; General Leukodystrophy & Mitochondrial Leukoencephalopathy
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for RNASEH2C were set to 25655951; 27411419
Created
Ian Berry (Leeds Genetics Laboratory)RNASEH2C was created by [email protected]
Added New Source
Ian Berry (Leeds Genetics Laboratory)RNASEH2C was added to Inherited white matter disorderspanel. Sources: Expert list