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Intellectual disability

Gene: PDS5A

Amber List (moderate evidence)
PDS5A (PDS5 cohesin associated factor A)
EnsemblGeneIds (GRCh38): ENSG00000121892
EnsemblGeneIds (GRCh37): ENSG00000121892
OMIM: 613200, Gene2Phenotype
PDS5A is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

Comment on list classification: Although there are four unrelated patients reported with only heterozygous variants from PDS5A gene and with intellectual disability/ global developmental delay, the phenotype is not consistent across the eight reported patients with heterozygous PDS5A variants. Hence, the gene should be rated amber with current evidence.

The 'watchlist' tag has been added to review the gene upon any new evidence.
Created: 27 Jul 2026, 10:47 a.m. | Last Modified: 27 Jul 2026, 10:47 a.m.
Panel Version: 10.66
PMID:30158690 (2019) reoported a cohort that had undergone exome sequencing of which one patient with intellectual disability/ developmental delay was identified with a paternally inherited PDS5A variant (p.Glu759Ter) and a de novo ASXL3 variant.

PMID:42431198 (2026) reported the identification of heterozygous PDS5A variants in eight unrelated individuals and the inheritance was de novo in four, maternal in one and unknown in three. Patients with variants in PDS5A presented with considerable morbidity, and every patient had neurodevelopmental (e.g., developmental delay, intellectual disability) and/or other neurological features (e.g., epilepsy, hypotonia, abnormal brain imaging). However, these features were variable and less convincing as unified syndromic presentations. Severe intellectual disability was reported in two patients and global developmental delay was reported in two other patients. 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, 10:39 a.m. | Last Modified: 27 Jul 2026, 11:01 a.m.
Panel Version: 10.67

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
complex neurodevelopmental disorder, MONDO:0100038

Publications

Created: 27 Jul 2026, 10:39 a.m.
Last Modified: 27 Jul 2026, 11:01 a.m.
Panel version: 10.66

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • complex neurodevelopmental disorder, MONDO:0100038
Tags
watchlist
OMIM
613200
Clinvar variants
Variants in PDS5A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jul 2026, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: PDS5A were set to 42431198

27 Jul 2026, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: pds5a has been classified as Amber List (Moderate Evidence).

27 Jul 2026, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist tag was added to gene: PDS5A.

27 Jul 2026, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PDS5A was added gene: PDS5A was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: PDS5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDS5A were set to 42431198 Phenotypes for gene: PDS5A were set to complex neurodevelopmental disorder, MONDO:0100038 Review for gene: PDS5A was set to AMBER