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Intellectual disability

Gene: D2HGDH

Green List (high evidence)

D2HGDH (D-2-hydroxyglutarate dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000180902
EnsemblGeneIds (GRCh37): ENSG00000180902
OMIM: 609186, Gene2Phenotype
D2HGDH is in 10 panels

6 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Created: 29 Sep 2018, 10:10 p.m.

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as green as bot h patients in 15609246 have developmental delay
Created: 21 Nov 2017, 3:52 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Ellen McDonagh (Genomics England Curator)

I don't know

PMID: 16081310 - study of monozygotic twins with D-2-Hydroxyglutaric aciduria found to be compound heterozygous for variants in this gene. One twin displayed multiple congenital anomalies, severe developmental delay, and abnormal neuroradiological findings, whereas her twin had normal neurocognitive and neuroradiological phenotypes without concomitant congenital abnormalities. This paper therefore suggests that the heterogenous phenotype seen in patients with D-2-Hydroxyglutaric aciduria may be due to factors other than variants in this gene.
Created: 27 Oct 2017, 2:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
D-2-hydroxyglutaric aciduria 600721

Publications

alisdair mcneill (Sheffield childrens hospital)

Red List (low evidence)

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • D-2-hydroxyglutaric aciduria, 600721
OMIM
609186
Clinvar variants
Variants in D2HGDH
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: d2hgdh has been classified as Green List (High Evidence).

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to D2HGDH.

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

30 Nov 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for D2HGDH were set to D-2-hydroxyglutaric aciduria, 600721

29 Nov 2017, Gel status: 4

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to D2HGDH. Panel: Intellectual disability Model of inheritance for gene D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene D2HGDH was set to ['15609246', '16081310']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

D2HGDH was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

D2HGDH was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen