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Intellectual disability

Gene: DENND5B

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 2:57 p.m. | Last Modified: 26 Sep 2024, 2:57 p.m.
Panel Version: 7.41

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

Created: 26 Sep 2024, 2:57 p.m.
Last Modified: 26 Sep 2024, 2:57 p.m.
Panel version: 7.41

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 11 Apr 2024, 12:28 p.m. | Last Modified: 11 Apr 2024, 12:28 p.m.
Panel Version: 5.521
DENND5B variants have not previously been associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 38387458 reports five de novo missense variants in five unrelated cases. The carriers of these DENND5B variants have a neurodevelopmental disorder, which is characterized by psychomotor delay (5/5 cases), intellectual disability, ranging from severe to mild (3/5 cases, although one of the negative cases was a 2 year old child, who was considered to be too young to make the assessment, although the DD/intellectual disability phenotype was considered to be moderate in this case), epilepsy (2/5 cases) and hypotonia (4/5 cases). The authors of PMID: 38387458 also report the functional effects of the DENND5B variants, which revealed defective intracellular vesicle trafficking, with significant impairment of lipid uptake and distribution. They conclude that this effect is likely to be caused by the predicted disruption of protein folding in the variant DENND5B peptide.
Sources: Literature
Created: 11 Apr 2024, 12:17 p.m.

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

Phenotypes
DENND5B associated neurodevelopmental disorder

Publications

Created: 11 Apr 2024, 12:17 p.m.

Panel version: 5.520

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • DENND5B associated neurodevelopmental disorder
Tags
gene-checked
OMIM
617279
Clinvar variants
Variants in DENND5B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

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

26 Sep 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_24_promote_green was removed from gene: DENND5B. Tag Q2_24_NHS_review was removed from gene: DENND5B.

26 Sep 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to DENND5B. Source Expert Review Green was added to DENND5B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

11 Apr 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: dennd5b has been classified as Amber List (Moderate Evidence).

11 Apr 2024, Gel status: 1

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_24_promote_green tag was added to gene: DENND5B. Tag Q2_24_NHS_review tag was added to gene: DENND5B.

11 Apr 2024, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: DENND5B was added gene: DENND5B was added to Intellectual disability - microarray and sequencing. Sources: Literature 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 associated neurodevelopmental disorder Review for gene: DENND5B was set to GREEN