Adult onset leukodystrophy
Gene: ADAREnsemblGeneIds (GRCh38): ENSG00000160710
EnsemblGeneIds (GRCh37): ENSG00000160710
OMIM: 146920, Gene2Phenotype
ADAR is in 21 panels
6 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.Created: 10 Oct 2023, 5:56 p.m. | Last Modified: 10 Oct 2023, 5:56 p.m.
Panel Version: 3.18
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Could not find any evidence of adult-onset disease in literature. Even in atypically late-onset cases of AGS, symptoms typically begin with the first 5 years of life.Created: 25 Oct 2022, 12:08 p.m. | Last Modified: 25 Oct 2022, 12:08 p.m.
Panel Version: 1.49
David Lynch (UCL Institute of Neurology)
Catherine Snow (Genomics England)
Children only in OMIMCreated: 24 Jul 2019, 2:49 p.m. | Last Modified: 24 Jul 2019, 2:49 p.m.
Panel Version: 0.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 6, 615010
Louise Daugherty (Genomics England Curator)
Review and rating uploaded from file (Consensus gene list for R62 Adult-Onset Leukodystrophy - Leeds.xlsx) submitted by Ian Berry (Leeds Genetics Laboratory) on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Phenotype and MOI not submitted.Created: 4 Jul 2019, 4:32 p.m. | Last Modified: 4 Jul 2019, 4:32 p.m.
Panel Version: 0.10
Ian Berry (Leeds Genetics Laboratory)
Included all genes listed in clinical cases in Lynch et al 2015 PMID:28334938 and Ayrignac et al. 2015 PMID: 25527826. Included all genes with clear adult onset listed in Vanderver 2017 PMID:27159321 and Ahmed et al. 2017 PMID:24357685. A small number of genes from these resources were omitted, particularly those with limited or single case reports referenced in Ahmed et al, those with a metabolic basis (that could be determined by standard metabolic assays), and recessive diseases where the likelihood of encountering incidental carrier status is far more likely than finding a diagnosis e.g. Cockayne syndrome. Due to variable expressivity and potential later onset of phenotype in hypomorphic cases, peroxisomal biogenesis disorders OMIM phenotypic Series PS214100 and GeneReviews PMID:20301621 included.Created: 4 Jul 2019, 4:06 p.m. | Last Modified: 4 Jul 2019, 4:06 p.m.
Panel Version: 0.9
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- Yorkshire and North East GLH
- Phenotypes
-
- Aicardi-Goutieres syndrome 6, OMIM:615010
- OMIM
- 146920
- Clinvar variants
- Variants in ADAR
- Penetrance
- None
- 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
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_22_demote_red was removed from gene: ADAR.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Red was added to ADAR. Rating Changed from Green List (high evidence) to Red List (low evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: adar has been classified as Green List (High Evidence).
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_22_demote_red tag was added to gene: ADAR.
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
Set mode of inheritance, Set Phenotypes
Catherine Snow (Genomics England)Mode of inheritance for gene ADAR was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Aicardi-Goutieres syndrome 6, 615010 for gene: ADAR
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene ADAR were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to ADAR. Rating Changed from Red List (low evidence) to Green List (high evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ADAR.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: ADAR was added gene: ADAR was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for gene: ADAR was set to