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  3. L2HGDH
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Dystonia - complex

Gene: L2HGDH

Green List (high evidence)
L2HGDH (L-2-hydroxyglutarate dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000087299
EnsemblGeneIds (GRCh37): ENSG00000087299
OMIM: 609584, Gene2Phenotype
L2HGDH is in 15 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Four families with dystonia as a feature of the condition.
Sources: Expert list
Created: 6 Apr 2020, 1:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
L-2-hydroxyglutaric aciduria MIM#236792

Publications

Created: 6 Apr 2020, 1:13 a.m.

Panel version: 0.24

History Filter Activity

6 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: l2hgdh has been classified as Green List (High Evidence).

6 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: l2hgdh has been classified as Green List (High Evidence).

6 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: L2HGDH was added gene: L2HGDH was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: L2HGDH were set to 24753671; 18780161; 15824270; 10399870 Phenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria MIM#236792 Review for gene: L2HGDH was set to GREEN