Intellectual disability
Gene: PDS5B

PDS5B (PDS5 cohesin associated factor B)
EnsemblGeneIds (GRCh38): ENSG00000083642
EnsemblGeneIds (GRCh37): ENSG00000083642
OMIM: 605333, Gene2Phenotype
PDS5B is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

Comment on list classification: Although there are eight unrelated patients reported with PDS5B variants and variable neurodevelopmental features, intellectual disability was only reported in one. Hence, this gene should be rated red with the current evidence.
Created: 27 Jul 2026, 11:04 a.m. | Last Modified: 27 Jul 2026, 11:04 a.m.

Panel Version: 10.69

PMID:42431198 (2026) reported eight unrelated patients with rare heterozygous loss of function variants in PDS5B gene, of which inheritance was de novo in four, unknown in three, and inherited from unaffected parent in one. They presented with variable neurodevelopmental features and intellectual disability was reported only in one. No functional evidence available.

This gene has not yet been associated with relevant phenotypes in OMIM, Gene2Phenotype or ClinGen, but associated with amber rating on the intellectual disability panel of PanelApp Australia.
Sources: Literature
Created: 27 Jul 2026, 11:02 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
complex neurodevelopmental disorder, MONDO:0100038

Publications

42431198

Created: 27 Jul 2026, 11:02 a.m.

Panel version: 10.69

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Literature

Phenotypes

complex neurodevelopmental disorder, MONDO:0100038

OMIM

605333

Clinvar variants

Variants in PDS5B

Penetrance

None

Publications

42431198

Panels with this gene

Intellectual disability

History Filter Activity

27 Jul 2026, Gel status: 1

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: pds5b has been classified as Red List (Low Evidence).

27 Jul 2026, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PDS5B was added gene: PDS5B was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: PDS5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDS5B were set to 42431198 Phenotypes for gene: PDS5B were set to complex neurodevelopmental disorder, MONDO:0100038 Review for gene: PDS5B was set to AMBER

Intellectual disability Gene: PDS5B