Intracerebral calcification disorders
Gene: ADAREnsemblGeneIds (GRCh38): ENSG00000160710
EnsemblGeneIds (GRCh37): ENSG00000160710
OMIM: 146920, Gene2Phenotype
ADAR is in 21 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to the following evidence...expert green review, it is a confirmed DD gene for AICARDI-GOUTIRES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE, and it is a green gene on the Inherited white matter disorders gene panel (version 1.0), and Intellectual disability gene panel (version 1.14). Multiple cases/family reports for different variants have been reported - see publications.Created: 29 Nov 2016, 11:45 a.m.
Yanick Crow (University of Manchester)
Loss of function autosomal recessive and a single dominant mutation also recognised (G1007R)Created: 11 Feb 2016, 7:19 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutières, isolated spasticity, bilateral striatal necrosis
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Eligibility statement prior genetic testing
- UKGTN
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Aicardi-Goutieres syndrome 6, OMIM:615010
- Dyschromatosis symmetrica hereditaria, OMIM:127400
- OMIM
- 146920
- Clinvar variants
- Variants in ADAR
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Intracerebral calcification disorders
- Adult onset leukodystrophy
- Inherited white matter disorders
- Pigmentary skin disorders
- COVID-19 research
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Early onset dystonia
- Hereditary spastic paraplegia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ADAR were changed from Aicardi-Goutieres syndrome 6; Aicardi-Goutieres syndrome; Aicardi-Goutières, isolated spasticity, bilateral striatal necrosis to Aicardi-Goutieres syndrome 6, OMIM:615010; Dyschromatosis symmetrica hereditaria, OMIM:127400
Upload gene information
Louise Daugherty (Genomics England Curator)ADAR was added to Intracerebral calcification disorderspanel. Sources: Eligibility statement prior genetic testing
Upload gene information
Louise Daugherty (Genomics England Curator)ADAR was added to Intracerebral calcification disorderspanel. Sources: UKGTN
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)19th Dec 2016: panel revised according to expert review and internal curation review.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ADAR were set to 25604658; 23001123
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ADAR were set to Aicardi-Goutieres syndrome 6; Aicardi-Goutieres syndrome;Aicardi-Goutières, isolated spasticity, bilateral striatal necrosis
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ADAR were set to 25604658
Added New Source
Olivia Niblock (Genomics England Curator)ADAR was added to Intracerebral calcification disorderspanel. Source: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)ADAR was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)ADAR was added to Intracerebral calcification disorderspanel. Sources: Expert list