PanelApp
  1. Genes and Genomic Entities
  2. SNAPC4

SNAPC4

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green SNAPC4 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, MIM# 620515

Green SNAPC4 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.357

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, MIM# 620515

Green SNAPC4 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.410

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, MIM# 620515

Green SNAPC4 in Hereditary Spastic Paraplegia - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.102

Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, MIM# 620515