Adult onset leukodystrophy
Gene: EARS2EnsemblGeneIds (GRCh38): ENSG00000103356
EnsemblGeneIds (GRCh37): ENSG00000103356
OMIM: 612799, Gene2Phenotype
EARS2 is in 14 panels
6 reviews
Sarah Leigh (Genomics England Curator)
The 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
Zornitza Stark (Australian Genomics)
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
David Lynch (UCL Institute of Neurology)
Catherine Snow (Genomics England)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 12, 614924
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 Amber
- NHS GMS
- Yorkshire and North East GLH
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 12, 614924
- OMIM
- 612799
- Clinvar variants
- Variants in EARS2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Adult onset leukodystrophy
- Inherited white matter disorders
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Fetal anomalies
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q4_21_expert_review was removed from gene: EARS2.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Amber was added to EARS2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added Tag
Ivone Leong (Genomics England Curator)Tag Q4_21_expert_review tag was added to gene: EARS2.
Set mode of inheritance, Set Phenotypes
Catherine Snow (Genomics England)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
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene EARS2 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 EARS2. 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 EARS2.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)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