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Fetal anomalies

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

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for L-2-HYDROXYGLUTARIC ACIDURIA
Created: 11 Dec 2018, 9:05 a.m.

History Filter Activity

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: L2HGDH was added gene: L2HGDH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: L2HGDH were set to L-2-HYDROXYGLUTARIC ACIDURIA