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Fetal anomalies

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for EPILEPTIC ENCEPHALOPATHY
Created: 11 Dec 2018, 9:04 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
OMIM
617278
Clinvar variants
Variants in DENND5A
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: DENND5A was added gene: DENND5A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: DENND5A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DENND5A were set to EPILEPTIC ENCEPHALOPATHY