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DDG2P

Gene: DENND5B

Red List (low evidence)
DENND5B (DENN domain containing 5B)
EnsemblGeneIds (GRCh38): ENSG00000170456
EnsemblGeneIds (GRCh37): ENSG00000170456
OMIM: 617279, Gene2Phenotype
DENND5B is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for DENND5B-related neurodevelopmental disorder with cortical migration and white matter abnormalities are limited, monoallelic_autosomal and loss of function (PMID:38387458). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03547.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease DENND5B-related neurodevelopmental disorder with cortical migration and white matter abnormalities is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 38387458).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
DENND5B-related neurodevelopmental disorder with cortical migration and white matter abnormalities

Publications

Mode of pathogenicity
Other

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • DENND5B-related neurodevelopmental disorder with cortical migration and white matter abnormalities
Tags
de novo gene-checked
OMIM
617279
Clinvar variants
Variants in DENND5B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: DENND5B was changed from Other to None

13 Feb 2026, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag de novo tag was added to gene: DENND5B.

2 Oct 2024, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: DENND5B.

26 Sep 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: DENND5B was added gene: DENND5B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DENND5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DENND5B were set to 38387458 Phenotypes for gene: DENND5B were set to DENND5B-related neurodevelopmental disorder with cortical migration and white matter abnormalities Mode of pathogenicity for gene: DENND5B was set to Other