1. Panels
  2. Miscellaneous Metabolic Disorders
  3. L2HGDH
STRs in panel
Prev Next
Regions in panel
Prev Next

Miscellaneous Metabolic Disorders

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)

Well-established gene-disease association (see OMIM entry). L-2-hydroxyglutaric aciduria is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders) and is an organic aciduria.
Sources: NHS GMS
Created: 8 Feb 2021, 12:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
L-2-hydroxyglutaric aciduria MIM#236792; organic acidurias

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 Feb 2021, 12:39 a.m.

Panel version: 0.301

History Filter Activity

8 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

8 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

8 Feb 2021, 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 Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: L2HGDH were set to 27604308; 15385440 Phenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria MIM#236792; organic acidurias Review for gene: L2HGDH was set to GREEN gene: L2HGDH was marked as current diagnostic