SNRPN

small nuclear ribonucleoprotein polypeptide N
OMIM: 182279, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green SNRPN in Genomic imprinting


Version 0.149

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Prader-Willi syndrome, OMIM:176270
Red SNRPN in Paediatric motor neuronopathies

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 3.7
Latest signed off version: v3.6 (1 May 2024)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review Other - please specifiy in evaluation comments
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Prader-Willi syndrome, OMIM:176270
    Tags
    • currently-ngs-unreportable