Adult onset leukodystrophy
Gene: EARS2The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 1:56 p.m. | Last Modified: 9 Mar 2022, 1:56 p.m.
Panel Version: 1.40
Multiple families reported but onset typically in infancy/childhood.Created: 21 Jun 2020, 6:20 a.m. | Last Modified: 21 Jun 2020, 6:20 a.m.
Panel Version: 1.4
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 12, MIM# 614924; Leukoencephalopathy with thalamus and brainstem involvement and high lactate
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 12, 614924
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_21_expert_review was removed from gene: EARS2.
Source Expert Review Amber was added to EARS2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Tag Q4_21_expert_review tag was added to gene: EARS2.
Mode of inheritance for gene EARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Combined oxidative phosphorylation deficiency 12, 614924 for gene: EARS2
Publications for gene EARS2 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Source Expert Review Green was added to EARS2. Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to EARS2.
gene: EARS2 was added gene: EARS2 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for gene: EARS2 was set to