SNRPN

small nuclear ribonucleoprotein polypeptide N
OMIM: 182279, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Amber SNRPN in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Prader-Willi syndrome
  • OMIM #176270
Tags
  • SV/CNV