1. Genes and Genomic Entities
  2. SNAPC4

SNAPC4

small nuclear RNA activating complex polypeptide 4
OMIM: 602777, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber SNAPC4 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
Green SNAPC4 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SNAPC4-related neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, OMIM:620515