Adult onset leukodystrophy
Gene: ADAR
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
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
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
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
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
Tag Q4_22_demote_red was removed from gene: ADAR.
Source Expert Review Red was added to ADAR. Rating Changed from Green List (high evidence) to Red List (low evidence)
Gene: adar has been classified as Green List (High Evidence).
Tag Q4_22_demote_red tag was added to gene: ADAR.
Phenotypes for gene: ADAR were changed from Aicardi-Goutieres syndrome 6, 615010 to Aicardi-Goutieres syndrome 6, OMIM:615010
Mode of inheritance for gene ADAR was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Aicardi-Goutieres syndrome 6, 615010 for gene: ADAR
Publications for gene ADAR were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Source Expert Review Green was added to ADAR. Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to ADAR.
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