Genomics England
GMS Panels
Panels
Genes and Entities

SNRPE

small nuclear ribonucleoprotein polypeptide E
OMIM: 128260
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX 615059
Green
in Ectodermal dysplasia
R-numbers: R163
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypotrichosis 11, OMIM:615059