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Fetal anomalies

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

Daniel Flanagan (Victorian Clinical Genetics Services)

Red List (low evidence)

In a cohort of 61 patients with mutations identified, the mean age of disease onset was 2 years (range 0-7 years). Only one patient had disease onset from birth. In general, the disease onset occurs during the first year of life with motor retardation or epilepsy as presenting symptoms. Leukodystrophy age of onset is variable, but typically in infancy/childhood.
Created: 7 Nov 2021, 10:48 p.m. | Last Modified: 7 Nov 2021, 10:48 p.m.
Panel Version: 0.139

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
L-2-hydroxyglutaric aciduria, MIM#236792

Publications

History Filter Activity

8 Nov 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: l2hgdh has been classified as Red List (Low Evidence).

8 Nov 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Nov 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: L2HGDH were set to

8 Nov 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: l2hgdh has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: L2HGDH was added gene: L2HGDH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: L2HGDH were set to L-2-HYDROXYGLUTARIC ACIDURIA