Intracerebral calcification disorders
Gene: ADARComment on list classification: Promoted from red to green due to the following evidence...expert green review, it is a confirmed DD gene for AICARDI-GOUTIRES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE, and it is a green gene on the Inherited white matter disorders gene panel (version 1.0), and Intellectual disability gene panel (version 1.14). Multiple cases/family reports for different variants have been reported - see publications.Created: 29 Nov 2016, 11:45 a.m.
Loss of function autosomal recessive and a single dominant mutation also recognised (G1007R)Created: 11 Feb 2016, 7:19 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutières, isolated spasticity, bilateral striatal necrosis
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: ADAR were changed from Aicardi-Goutieres syndrome 6; Aicardi-Goutieres syndrome; Aicardi-Goutières, isolated spasticity, bilateral striatal necrosis to Aicardi-Goutieres syndrome 6, OMIM:615010; Dyschromatosis symmetrica hereditaria, OMIM:127400
ADAR was added to Intracerebral calcification disorderspanel. Sources: Eligibility statement prior genetic testing
ADAR was added to Intracerebral calcification disorderspanel. Sources: UKGTN
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 ADAR were set to 25604658; 23001123
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for ADAR were set to Aicardi-Goutieres syndrome 6; Aicardi-Goutieres syndrome;Aicardi-Goutières, isolated spasticity, bilateral striatal necrosis
Publications for ADAR were set to 25604658
ADAR was added to Intracerebral calcification disorderspanel. Source: Radboud University Medical Center, Nijmegen
ADAR was created by ellenmcdonagh
ADAR was added to Intracerebral calcification disorderspanel. Sources: Expert list