PRSS12

protease, serine 12
OMIM: 606709, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red PRSS12 in Fetal anomalies


Version 1.749
Latest signed off version: v1.92 (21 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1

Green PRSS12 in DDG2P


Version 2.50
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1 249500

    Green PRSS12 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1396
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Mental retardation, autosomal recessive 1, 249500
    • Mental Retardation, Recessive
    • MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1 (MRT1)

    Green PRSS12 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mental retardation, autosomal recessive 1, 249500