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Intellectual disability syndromic and non-syndromic

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)

Four unrelated families, ID is part of the phenotype.
Sources: Expert list
Created: 1 Feb 2020, 9:15 a.m.

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
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile, 49, MIM# 617281
OMIM
617278
Clinvar variants
Variants in DENND5A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2020, 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).

1 Feb 2020, 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).

1 Feb 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DENND5A was added gene: DENND5A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: DENND5A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DENND5A were set to 27431290; 27866705 Phenotypes for gene: DENND5A were set to Epileptic encephalopathy, early infantile, 49, MIM# 617281 Review for gene: DENND5A was set to GREEN