Intracerebral calcification disorders
Gene: RNASEH2AEnsemblGeneIds (GRCh38): ENSG00000104889
EnsemblGeneIds (GRCh37): ENSG00000104889
OMIM: 606034, Gene2Phenotype
RNASEH2A is in 18 panels
2 reviews
Yanick Crow (University of Manchester)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutières syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for AICARDI-GOUTIERES SYNDROME 4, multiple cases with different variants reported in OMIM.Created: 9 Sep 2016, 10:03 a.m.
Mode of inheritance sourced from OMIM.Created: 8 Jan 2016, 10:49 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Eligibility statement prior genetic testing
- Other
- UKGTN
- Phenotypes
-
- Aicardi-Goutieres syndrome 4
- Aicardi-Goutieres Syndrome
- OMIM
- 606034
- Clinvar variants
- Variants in RNASEH2A
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Intracerebral calcification disorders
- Adult onset leukodystrophy
- Inherited white matter disorders
- COVID-19 research
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hydrocephalus
- Early onset dystonia
- Juvenile dermatomyositis
- Early onset or syndromic epilepsy
- Fetal anomalies
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)19th Dec 2016: panel revised according to expert review and internal curation review.
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 RNASEH2A were set to 25604658
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Olivia Niblock (Genomics England Curator)RNASEH2A was added to Intracerebral calcification disorderspanel. Source: Emory Genetics Laboratory
Added New Source
Olivia Niblock (Genomics England Curator)RNASEH2A was added to Intracerebral calcification disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene RNASEH2A were set to Aicardi-Goutieres syndrome 4
Upload gene information
Ellen McDonagh (Genomics England Curator)RNASEH2A was added to Intracerebral calcification disorderspanel. Sources: Eligibility statement prior genetic testing,Other,UKGTN
clearsources
Ellen McDonagh (Genomics England Curator)RNASEH2AAll sources for gene: RNASEH2A were removed
Added New Source
Ellen McDonagh (Genomics England Curator)RNASEH2A was added to Intracerebral calcification disorderspanel. Source: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)RNASEH2A was added to Intracerebral calcification disorderspanel. Sources: UKGTN,Eligibility statement prior genetic testing,Other
Created
Ellen McDonagh (Genomics England Curator)RNASEH2A was created by ellenmcdonagh