Early onset dystonia
Gene: ADAREnsemblGeneIds (GRCh38): ENSG00000160710
EnsemblGeneIds (GRCh37): ENSG00000160710
OMIM: 146920, Gene2Phenotype
ADAR is in 21 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment 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
Arianna Tucci (Genomics England Curator)
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Aicardi-Goutieres syndrome 6, OMIM:615010
- Dyschromatosis symmetrica hereditaria, OMIM:127400
- OMIM
- 146920
- Clinvar variants
- Variants in ADAR
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Structural basal ganglia disorders
- Intracerebral calcification disorders
- Childhood onset dystonia, chorea or related movement disorder
- COVID-19 research
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Inherited white matter disorders
- Adult onset leukodystrophy
- Early onset or syndromic epilepsy
- Intellectual disability
- Likely inborn error of metabolism
- Early onset dystonia
- Pigmentary skin disorders
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: ADAR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ADAR were set to Aicardi-Goutieres syndrome 6, 615010; dystonia
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ADAR were set to 28139822
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ADAR was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)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.
Added New Source
GEL ()ADAR was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory