Genomics England
GMS Panels
Panels
Genes and Entities

RSPRY1

ring finger and SPRY domain containing 1
OMIM: 616585
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA
Green
in Rare syndromic craniosynostosis or isolated multisuture synostosis
R-numbers: R100
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723