Childhood onset dystonia, chorea or related movement disorder

Gene: ADAR

Removed the Q4_22_MOI tag as the MOI of this gene has been updated to Both mono- and bi-allelic.

Created: 17 Oct 2023, 2:15 p.m. | Last Modified: 17 Oct 2023, 2:15 p.m.

Panel Version: 3.50

The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 11 Oct 2023, 9:18 a.m. | Last Modified: 11 Oct 2023, 9:18 a.m.

Panel Version: 3.50

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Comment on mode of inheritance: Should be updated from biallelic only to both mono- and biallelic at the next GMS panel update.

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, 11:44 a.m. | Last Modified: 25 Oct 2022, 11:44 a.m.

Panel Version: 1.263

Green List (high evidence)