RSPRY1

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber RSPRY1 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723
    Tags
    • Q1_25_ promote_green
    Green RSPRY1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723
    Green RSPRY1 in Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 6.3
    Latest signed off version: v6.0 (30 Apr 2025)

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


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    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 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723
    Tags
    • Q1_25_ promote_green
    Green RSPRY1 in Monogenic short stature


    Level 2: Endocrinology
    Version 1.31
    Latest signed off version: v1.0 (7 Aug 2024)

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