SNRPE

small nuclear ribonucleoprotein polypeptide E
OMIM: 128260, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green SNRPE in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypotrichosis 11
  • OMIM #615059

Red SNRPE in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hypotrichosis 11
  • OMIM #615059

Green SNRPE in Hair disorders


Level 2: Dermatological disorders
Version 0.71

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypotrichosis 11 MIM#615059

Red SNRPE in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Hypotrichosis 11, MIM #615059