PRSS56

protease, serine 56
OMIM: 613858, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green PRSS56 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.185
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROPHTHALMIA ISOLATED TYPE 6
Green PRSS56 in DDG2P


Version 6.447
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 Green
    Phenotypes
    • MICROPHTHALMIA ISOLATED TYPE 6 613517
    Green PRSS56 in Anophthalmia or microphthalmia

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.56

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Microphthalmia, isolated 6, 613517
    Red PRSS56 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.370
    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 Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Microphthalmia, isolated 6, 613517
    Green PRSS56 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.40
    Latest signed off version: v4.0 (7 Aug 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Microphthalmia, isolated 6, 613517