Early onset dystonia
Gene: ADARComment on mode of inheritance: Updated from biallelic only to both mono- and biallelic.
Dystonia is an established feature of AGS6 (MIM# 615010) associated with AR variants in this gene. Overall the AD condition (dyschromatosis symmetrica hereditaria, MIM# 127400) often presents with changes in skin pigmentation as the only sign of disease. However, there have also been reports of neurologic deficits including ID, developmental regression, brain calcification, seizures and dystonia in some affected individuals, particularly with the Gly1007Arg variant (PMID: 16225627; 16817193; 19017046). Although the penetrance of extracutaneous features is reduced, there is value in testing heterozygous ADAR variants on these panels to ensure syndromic cases are not missed if not tested in the context of the skin phenotype.Created: 25 Oct 2022, 11:45 a.m. | Last Modified: 25 Oct 2022, 11:45 a.m.
Panel Version: 1.129
Biallelic mutations can cause a phenotype consisting of an extrapyramidal syndrome with severe dystonia (28139822)Created: 27 Mar 2017, 11:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 6, 615010; dystonia
Publications
Phenotypes for gene: ADAR were changed from Aicardi-Goutieres syndrome 6, 615010; dystonia to Aicardi-Goutieres syndrome 6, OMIM:615010; Dyschromatosis symmetrica hereditaria, OMIM:127400
Mode of inheritance for gene: ADAR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for ADAR were set to Aicardi-Goutieres syndrome 6, 615010; dystonia
Publications for ADAR were set to 28139822
Mode of inheritance for ADAR was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
ADAR was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory