1. Genes and Genomic Entities
  2. PLCH1

PLCH1

phospholipase C eta 1
OMIM: 612835, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber PLCH1 in Holoprosencephaly - NOT chromosomal

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Cerebral malformation

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Severe developmental delay
    • Brain malformations
    • Holoprosencephaly spectrum
    Red PLCH1 in DDG2P


    Version 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • HPE-related disorder