Inherited white matter disorders
Gene: ADAREnsemblGeneIds (GRCh38): ENSG00000160710
EnsemblGeneIds (GRCh37): ENSG00000160710
OMIM: 146920, Gene2Phenotype
ADAR is in 21 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Updated from both mono- and biallelic to biallelic only. Monoallelic variants have been linked to brain calcification in AD disease (MIM# 127400) with neurological symptoms, however, white matter abnormalities were not reported.Created: 25 Oct 2022, 11:36 a.m. | Last Modified: 25 Oct 2022, 11:36 a.m.
Panel Version: 1.163
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer and is a confirmed DD gene for AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE. multiple families and different variants reported in OMIM. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951, under the synonym "ADAR1".Created: 8 Aug 2016, 9:22 a.m.
Comment on mode of inheritance: From Gene2Phenotype, and the studies reported in OMIM, heterozygotes, compound heterozygotes and homozygotes have been reported.Created: 8 Aug 2016, 9:21 a.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_606
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Aicardi-Goutieres syndrome 6, OMIM:615010
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- OMIM
- 146920
- Clinvar variants
- Variants in ADAR
- Penetrance
- Complete
- Publications
-
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_584
- 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 mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: ADAR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ADAR were changed from Aicardi-Goutieres Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy to Aicardi-Goutieres syndrome 6, OMIM:615010; General Leukodystrophy & Mitochondrial Leukoencephalopathy
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ADAR were set to Aicardi-Goutieres Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ADAR was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
Ian Berry (Leeds Genetics Laboratory)ADAR was added to Inherited white matter disorderspanel. Sources: Expert list
Created
Ian Berry (Leeds Genetics Laboratory)ADAR was created by [email protected]