RSPRY1

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber RSPRY1 in Fetal anomalies


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA
Green RSPRY1 in Rare syndromic craniosynostosis or isolated multisuture synostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723
Green RSPRY1 in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA
    Amber RSPRY1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.11
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Expert Review Amber
    • Literature
    Phenotypes
    • Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585
    Tags
    • watchlist