Hereditary spastic paraplegia
Gene: ADAR
ADAR (adenosine deaminase, RNA specific)
EnsemblGeneIds (GRCh38): ENSG00000160710
EnsemblGeneIds (GRCh37): ENSG00000160710
OMIM: 146920, Gene2Phenotype
ADAR is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000160710
EnsemblGeneIds (GRCh37): ENSG00000160710
OMIM: 146920, Gene2Phenotype
ADAR is in 21 panels
1 review
Arianna Tucci (Genomics England Curator)
Biallelic mutations can cause a phenotype of mainly spastic paraplegia (25243380)Created: 27 Mar 2017, 11:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 6, 615010
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Aicardi-Goutieres syndrome 6, OMIM:615010
- OMIM
- 146920
- Clinvar variants
- Variants in ADAR
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Structural basal ganglia disorders
- Intellectual disability
- Fetal anomalies
- Adult onset neurodegenerative disorder
- Intracerebral calcification disorders
- Likely inborn error of metabolism
- Early onset or syndromic epilepsy
- COVID-19 research
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Inherited white matter disorders
- Adult onset leukodystrophy
- Early onset dystonia
- Adult onset hereditary spastic paraplegia
- Hereditary spastic paraplegia
- DDG2P
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Pigmentary skin disorders
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
25 Oct 2022, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ADAR were changed from Aicardi-Goutieres syndrome 6, 615010 to Aicardi-Goutieres syndrome 6, OMIM:615010
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).
27 Mar 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)ADAR was added to Hereditary spastic paraplegiapanel. Sources: Expert Review
27 Mar 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)ADAR was created by arianna