Craniosynostosis

Gene: RSPRY1

Red List (low evidence)

RSPRY1 (ring finger and SPRY domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000159579
EnsemblGeneIds (GRCh37): ENSG00000159579
OMIM: 616585, Gene2Phenotype
RSPRY1 is in 4 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Four siblings of a consanguineous Saudi family had a homozygous 1-bp duplication in RSPRY1, all with CSS as part of skeletal dysplasia phenotype, comprising progressive spondyloepimetaphyseal dysplasia, short stature, microcephaly and facial dysmorphisms. No CSS in unrelated family with mutation ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: RSPRY1; Suggested initial gene rating: amber
Created: 5 Mar 2019, 11:21 a.m.

Details

Sources
  • NHS GMS
OMIM
616585
Clinvar variants
Variants in RSPRY1
Penetrance
None
Panels with this gene

History Filter Activity

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: RSPRY1 was added gene: RSPRY1 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: RSPRY1 was set to