PDS5A

PDS5 cohesin associated factor A
OMIM: 613200, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber PDS5A in Intellectual disability


Level 2: Developmental disorders
Version 11.23
Latest signed off version: v11.0 (12 Aug 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • complex neurodevelopmental disorder, MONDO:0100038
    Tags
    • watchlist