Dystonia - complex
Gene: ADAR
ADAR (adenosine deaminase, RNA specific)
EnsemblGeneIds (GRCh38): ENSG00000160710
EnsemblGeneIds (GRCh37): ENSG00000160710
OMIM: 146920, Gene2Phenotype
ADAR is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000160710
EnsemblGeneIds (GRCh37): ENSG00000160710
OMIM: 146920, Gene2Phenotype
ADAR is in 23 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Established gene-disease association with reported individuals having dystonia as a presenting phenotype.
PMID: 24262145 - homozygous/compound heterozygous variants reported in unrelated individuals with a clinical diagnosis of Aicardi-Goutières syndrome (AGS). About 5 unrelated individuals reported with four-limb dystonia.Created: 5 Dec 2024, 3 a.m. | Last Modified: 5 Dec 2024, 3 a.m.
Panel Version: 0.240
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome MONDO:0018866
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- dystonia
- Aicardi-Goutieres syndrome 6, 615010
- OMIM
- 146920
- Clinvar variants
- Variants in ADAR
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Chromosome Breakage Disorders
- Nucleotide metabolism disorders
- Prepair 1000+
- Brain Calcification
- BabyScreen+ newborn screening
- Autoinflammatory Disorders
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Early-onset Parkinson disease
- Disorders of immune dysregulation
- Regression
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Mendeliome
- Photosensitivity Syndromes
- Prepair 500+
- Hereditary Spastic Paraplegia - paediatric
- Cerebral Palsy
History Filter Activity
27 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ADAR was added gene: ADAR was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAR were set to dystonia; Aicardi-Goutieres syndrome 6, 615010