1. Genes and Genomic Entities
  2. P4HTM

P4HTM

prolyl 4-hydroxylase, transmembrane
OMIM: 614584, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green P4HTM in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, OMIM:618493
    Green P4HTM in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.10
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review
    • Expert Review Green
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, 618493
    • Seizures
    • Intellectual disability
    • Global developmental delay
    Green P4HTM in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Abnormality of the eye
    • Seizures
    • Dysautonomia
    • Central hypotonia
    • Muscular hypotonia
    • Hypoventilation
    • Intellectual disability
    • Sleep apnea
    • Global developmental delay
    • Central hypotonia, Muscular hypotonia, Global developmental delay, Intellectual disability, Seizures, Abnormality of the eye, Hypoventilation, Sleep apnea, Dysautonomia
    Green P4HTM in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, 618493