PSD3

pleckstrin and Sec7 domain containing 3
OMIM: 614440, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red PSD3 in ClinGen Gene Validity Curations


Version 0.65

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • Antecubital pterygium syndrome
Red PSD3 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Red PSD3 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.31
Latest signed off version: v5.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Other
Phenotypes
  • Antecubital pterygium syndrome