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Fetal anomalies

Gene: DENND5A

Green List (high evidence)

DENND5A (DENN domain containing 5A)
EnsemblGeneIds (GRCh38): ENSG00000184014
EnsemblGeneIds (GRCh37): ENSG00000184014
OMIM: 617278, Gene2Phenotype
DENND5A is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five unrelated families reported, hydrocephalus in at least two.
Created: 18 Oct 2021, 3:21 a.m. | Last Modified: 18 Oct 2021, 3:21 a.m.
Panel Version: 0.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 49, MIM# 617281

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Developmental and epileptic encephalopathy, 49, MONDO:0015002
  • Developmental and epileptic encephalopathy 49, OMIM:617281
OMIM
617278
Clinvar variants
Variants in DENND5A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dennd5a has been classified as Green List (High Evidence).

15 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DENND5A were set to

15 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dennd5a has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DENND5A was added gene: DENND5A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DENND5A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DENND5A were set to Developmental and epileptic encephalopathy, 49, MONDO:0015002; Developmental and epileptic encephalopathy 49, OMIM:617281