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  3. DENND5A
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Hydrocephalus

Gene: DENND5A

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Created: 29 Jul 2019, 2:49 p.m.
Last Modified: 29 Jul 2019, 2:49 p.m.
Panel version: 1.34

Helen Brittain (Genomics England Curator)

Green List (high evidence)

4 unrelated families reported to date. Ventricular dilatation or hydrocephalus consistent
Created: 9 May 2017, 1:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 49

Publications

Created: 9 May 2017, 1:22 p.m.

Panel version: 0.58

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 49, OMIM:617281
OMIM
617278
Clinvar variants
Variants in DENND5A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: DENND5A were changed from Epileptic encephalopathy, early infantile, 49 to Epileptic encephalopathy, early infantile, 49, OMIM:617281

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DENND5A.

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

DENND5A was added to Hydrocephaluspanel. Source: Expert Review Green

9 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

DENND5A was added to Hydrocephaluspanel. Sources: Literature

9 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

DENND5A was created by helen.brittain