PSPH

phosphoserine phosphatase
OMIM: 172480, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green PSPH in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.137
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Phosphoserine phosphatase deficiency 614023

    Amber PSPH in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.486

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Phosphoserine phosphatase deficiency 614023

    Amber PSPH in Inborn errors of metabolism


    Version 2.187
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Phosphoserine phosphatase deficiency 614023

    Green PSPH in Fetal anomalies


    Version 1.728
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PHOSPHOSERINE PHOSPHATASE DEFICIENCY
    • NEU-LAXOVA

    Green PSPH in DDG2P


    Version 2.49
    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
    • PHOSPHOSERINE PHOSPHATASE DEFICIENCY 614023
    • NEU-LAXOVA 256520

    Amber PSPH in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.448
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Phosphoserine phosphatase deficiency 614023
    Tags
    • watchlist

    Green PSPH in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1367
    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
    Phenotypes
    • PHOSPHOSERINE PHOSPHATASE DEFICIENCY

    Red PSPH in Childhood onset dystonia or chorea or related movement disorder


    Version 1.157
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green PSPH in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Phosphoserine phosphatase deficiency, 614023