Leukodystrophy - adult onset
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
Kaitlyn Dianna Weldon (University of Melbourne)
This is a well-established Aicardi-Goutieres syndrome disease, with white matter changes being a key phenotypeCreated: 8 Sep 2023, 1:19 a.m. | Last Modified: 8 Sep 2023, 1:19 a.m.
Panel Version: 0.109
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 6 MONDO:0014007
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Royal Melbourne Hospital
- Expert Review Green
- Phenotypes
-
- 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
30 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 Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, 615010