RSPRY1

ring finger and SPRY domain containing 1
OMIM: 616585, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green RSPRY1 in Mendeliome


Version 1.4215

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723

Green RSPRY1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.638

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723

Green RSPRY1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.402

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723

Green RSPRY1 in Fetal anomalies


Version 1.522

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723