Genomics England
GMS Panels
Panels
Genes and Entities

RSPRY1

ring finger and SPRY domain containing 1
OMIM: 616585
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723
Green
in Monogenic short stature
R-numbers: R453
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723
Green
in Rare syndromic craniosynostosis or isolated multisuture synostosis
R-numbers: R100
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723
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
Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723