Genomics England
GMS Panels
Panels
Genes and Entities

RIPPLY2

ripply transcriptional repressor 2
OMIM: 609891
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondylocostal dysostosis 6, OMIM:616566
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondylocostal dysostosis 6, OMIM:616566, spondylocostal dysostosis 6, autosomal recessive, MONDO:0014694