Intracerebral calcification disorders
Gene: RNASEH2B
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 2. Two pathogenic variants reported in OMIM. The ALA177THR rs75184679 variant has been reported in multiple families from different ethnicities. An additional variant AL185GLY rs74555752 was homozygous in 2 unrelated families, and compound heterozygous in a family with European Canadian and Hungarian descent. Found in 3/4 original sources.Created: 9 Sep 2016, 10:06 a.m.
Mode of inheritance sourced from OMIM.Created: 8 Jan 2016, 10:48 a.m.
Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres syndrome 2; Aicardi-Goutieres Syndrome to Aicardi-Goutieres syndrome 2, OMIM:610181
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 RNASEH2B were set to 25604658
This gene has been classified as Green List (High Evidence).
RNASEH2B was added to Intracerebral calcification disorderspanel. Source: Emory Genetics Laboratory
RNASEH2B was added to Intracerebral calcification disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
Phenotypes for gene RNASEH2B were set to Aicardi-Goutieres syndrome 2
Model of inheritance for gene RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
RNASEH2B was added to Intracerebral calcification disorderspanel. Sources: Other
RNASEH2B was added to Intracerebral calcification disorderspanel. Sources: UKGTN, Eligibility statement prior genetic testing
RNASEH2B was created by ellenmcdonagh