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Genetic Epilepsy

Gene: DDX39B

Green List (high evidence)

DDX39B (DExD-box helicase 39B)
EnsemblGeneIds (GRCh38): ENSG00000198563
EnsemblGeneIds (GRCh37): ENSG00000198563
OMIM: 142560, Gene2Phenotype
DDX39B is in 3 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Established gene-disease association - epilepsy is a prominent feature in affected individuals.

6 individuals from 5 families with variable neurological and developmental phenotypes including hypotonia, DD, ID and epilepsy.
4 de novo missense variants and 1 inherited splice variant were identified. All variants are absent from gnomAD v4.1.
In vivo functional assay using Drosophila transgenic flies was supportive of a loss of function phenotype.
Sources: Literature
Created: 3 Mar 2025, 11:15 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder MONDO:0700092, DDX39B-related

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • neurodevelopmental disorder MONDO:0700092, DDX39B-related
OMIM
142560
Clinvar variants
Variants in DDX39B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ddx39b has been classified as Green List (High Evidence).

5 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ddx39b has been classified as Green List (High Evidence).

3 Mar 2025, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: DDX39B was added gene: DDX39B was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: DDX39B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DDX39B were set to 39918047 Phenotypes for gene: DDX39B were set to neurodevelopmental disorder MONDO:0700092, DDX39B-related Review for gene: DDX39B was set to GREEN