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Intellectual disability

Gene: DENND5A

Amber List (moderate evidence)

DENND5A (DENN domain containing 5A)
EnsemblGeneIds (GRCh38): ENSG00000184014
EnsemblGeneIds (GRCh37): ENSG00000184014
OMIM: 617278, Gene2Phenotype
DENND5A is in 6 panels

2 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four unrelated families, ID is part of the phenotype.
Created: 1 Feb 2020, 9:13 a.m. | Last Modified: 1 Feb 2020, 9:13 a.m.
Panel Version: 3.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 49 617281

Publications

Ellen McDonagh (Genomics England Curator)

I don't know

Homozygous variants reported in ID patient PMID: 27431290. A probable DD gene for epileptic encephalopathy (reported in PMID: 27866705).
Created: 27 Oct 2017, 2:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
EPILEPTIC ENCEPHALOPATHY

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
OMIM
617278
Clinvar variants
Variants in DENND5A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 2

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.

29 Nov 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

DENND5A was added to Intellectual disability panel. Sources: Expert Review Amber

29 Nov 2017, Gel status: 2

Created

Ellen McDonagh (Genomics England Curator)

DENND5A was created by Ellen McDonagh