SPRTN

SprT-like N-terminal domain
OMIM: 616086, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber SPRTN in Childhood solid tumours


Level 2: Cancer susceptibility
Version 5.9
Latest signed off version: v5.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Ruijs-Aalfs syndrome, OMIM:616200
  • progeroid features-hepatocellular carcinoma predisposition syndrome, MONDO:0014527
Red SPRTN 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
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • PROGEROID SYNDROME
    Amber SPRTN in Paediatric disorders - additional genes


    Level 2: Developmental disorders
    Version 7.31
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • Literature
    Phenotypes
    • Ruijs-Aalfs syndrome, OMIM:616200
    • progeroid features-hepatocellular carcinoma predisposition syndrome, MONDO:0014527
    Tags
    • Q4_25_promote_green
    • Q4_25_NHS_review
    Red SPRTN 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 Not set
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services