Intracerebral calcification disorders
Gene: RNASEH2C
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutières syndrome
Publications
Comment on list classification: Identifed in 3/4 original sources. 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.Created: 9 Sep 2016, 10:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 3
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 RNASEH2C were set to 25604658
This gene has been classified as Green List (High Evidence).
RNASEH2C was added to Intracerebral calcification disorderspanel. Source: Emory Genetics Laboratory
RNASEH2C was added to Intracerebral calcification disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
Phenotypes for gene RNASEH2C were set to Aicardi-Goutieres syndrome 3
RNASEH2C was added to Intracerebral calcification disorderspanel. Sources: Other
Phenotypes for gene RNASEH2C were set to Aicardi-Goutieres Syndrome; Aicardi-Goutieres syndrome 3
Model of inheritance for gene RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene RNASEH2C were set to Aicardi-Goutieres Syndrome
RNASEH2C was added to Intracerebral calcification disorderspanel. Sources: UKGTN, Eligibility statement prior genetic testing
RNASEH2C was created by ellenmcdonagh