Intracerebral calcification disorders
Gene: SAMHD1
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 found in 3/4 original sources. Gene rated green and diagnostic-grade by expert reviewer, and is a confirmed DD gene for AICARDI-GOUTIERES SYNDROME. Multiple families with different variants reported in OMIM.Created: 9 Sep 2016, 10:09 a.m.
Mode of inheritance sourced from G2P.Created: 10 Feb 2016, 4:58 p.m.
SAMHD1 was added to Intracerebral calcification disorderspanel. Sources: Eligibility statement prior genetic testing
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 SAMHD1 were set to 25604658
This gene has been classified as Green List (High Evidence).
SAMHD1 was added to Intracerebral calcification disorderspanel. Source: UKGTN
SAMHD1 was added to Intracerebral calcification disorderspanel. Source: Emory Genetics Laboratory
SAMHD1 was added to Intracerebral calcification disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
SAMHD1 was added to Intracerebral calcification disorderspanel. Sources: Expert list
SAMHD1 was created by ellenmcdonagh