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Mendeliome

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

3 reviews

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 18 Sep 2020, 1:33 a.m. | Last Modified: 18 Sep 2020, 1:33 a.m.
Panel Version: 0.4486

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
L-2-hydroxyglutaric aciduria, MIM#236792

Publications

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 20052767 - Loss of function - Missense variants noted to have reduced enzyme activity
Created: 18 Sep 2020, 1:21 a.m. | Last Modified: 18 Sep 2020, 1:21 a.m.
Panel Version: 0.4482

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
L-2-hydroxyglutaric aciduria MIM#236792

Publications

Details

History Filter Activity

18 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: L2HGDH were set to

18 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: L2HGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: L2HGDH was added gene: L2HGDH was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: L2HGDH was set to Unknown