Adult onset leukodystrophy
Gene: L2HGDHEnsemblGeneIds (GRCh38): ENSG00000087299
EnsemblGeneIds (GRCh37): ENSG00000087299
OMIM: 609584, Gene2Phenotype
L2HGDH is in 14 panels
4 reviews
David Lynch (UCL Institute of Neurology)
Catherine Snow (Genomics England)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
L-2-hydroxyglutaric aciduria, 236792
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 Green
- NHS GMS
- Yorkshire and North East GLH
- Phenotypes
-
- L-2-hydroxyglutaric aciduria, 236792
- OMIM
- 609584
- Clinvar variants
- Variants in L2HGDH
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult onset leukodystrophy
- Inherited white matter disorders
- Fetal anomalies
- 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
- DDG2P
History Filter Activity
Set mode of inheritance, Set Phenotypes
Catherine Snow (Genomics England)Mode of inheritance for gene L2HGDH was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes L-2-hydroxyglutaric aciduria, 236792 for gene: L2HGDH
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene L2HGDH 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 L2HGDH. 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 L2HGDH.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: L2HGDH was added gene: L2HGDH was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for gene: L2HGDH was set to