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Possible mitochondrial disorder - nuclear genes

Gene: L2HGDH

Red List (low evidence)

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

1 review

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

L-2-hydroxyglutaric aciduria, 236792

History Filter Activity

4 Feb 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: L2HGDH was added gene: L2HGDH was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria, 236792