Intracerebral calcification disorders
Gene: RNASEH2A
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutières syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
19th Dec 2016: panel revised according to expert review and internal curation review.
This gene has been classified as Green List (High Evidence).
Publications for RNASEH2A were set to 25604658
This gene has been classified as Green List (High Evidence).
RNASEH2A was added to Intracerebral calcification disorderspanel. Source: Emory Genetics Laboratory
RNASEH2A was added to Intracerebral calcification disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
Phenotypes for gene RNASEH2A were set to Aicardi-Goutieres syndrome 4
RNASEH2A was added to Intracerebral calcification disorderspanel. Sources: Eligibility statement prior genetic testing,Other,UKGTN
RNASEH2AAll sources for gene: RNASEH2A were removed
RNASEH2A was added to Intracerebral calcification disorderspanel. Source: Eligibility statement prior genetic testing
RNASEH2A was added to Intracerebral calcification disorderspanel. Sources: UKGTN,Eligibility statement prior genetic testing,Other
RNASEH2A was created by ellenmcdonagh