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Inborn errors of metabolism

Gene: L2HGDH

Green List (high evidence)

L2HGDH (L-2-hydroxyglutarate dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000087299
EnsemblGeneIds (GRCh37): ENSG00000087299
OMIM: 609584, Gene2Phenotype
L2HGDH is in 14 panels

1 review

Sarah Leigh (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: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.
Panel Version: 1.412

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to L2HGDH. Source London North GLH was added to L2HGDH.

9 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: L2HGDH were changed from to L-2-hydroxyglutaric aciduria, 236792

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: L2HGDH was added gene: L2HGDH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: L2HGDH were set to 27604308