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Intellectual disability

Gene: DGKH

Red List (low evidence)

DGKH (diacylglycerol kinase eta)
EnsemblGeneIds (GRCh38): ENSG00000102780
EnsemblGeneIds (GRCh37): ENSG00000102780
OMIM: 604071, Gene2Phenotype
DGKH is in 1 panel

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Associated with bipolar disorder and schizophrenia - no evidence found for ID. Candidate gene in PMID: 26350204.
Created: 27 Oct 2017, 2:46 p.m.

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Sources
  • Expert Review Red
OMIM
604071
Clinvar variants
Variants in DGKH
Penetrance
Complete
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

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.

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: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DGKH was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DGKH was created by ellenmcdonagh