Early onset dystonia

Gene: ADAR

Green List (high evidence)

ADAR (adenosine deaminase, RNA specific)
EnsemblGeneIds (GRCh38): ENSG00000160710
EnsemblGeneIds (GRCh37): ENSG00000160710
OMIM: 146920, Gene2Phenotype
ADAR is in 22 panels

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

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

History Filter Activity

30 Mar 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ADAR were set to Aicardi-Goutieres syndrome 6, 615010; dystonia

30 Mar 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ADAR were set to 28139822

30 Mar 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for ADAR was changed to BIALLELIC, autosomal or pseudoautosomal

27 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Oct 2016, Gel status: 1

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.

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

ADAR was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory