RSPRY1

ring finger and SPRY domain containing 1
OMIM: 616585, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber RSPRY1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585

Amber RSPRY1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585

Amber RSPRY1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585

Amber RSPRY1 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585