PHC1

polyhomeotic homolog 1
OMIM: 602978, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red PHC1 in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert list
  • Other
  • Literature
Phenotypes
  • Autosomal recessive primary microcephaly (MCPH)
  • ?Microcephaly 11, primary, autosomal recessive, 615414
  • MCPH
  • primary microcephaly
Red PHC1 in DDG2P


Version 6.424
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 Red
    Phenotypes
    • PRIMARY MICROCEPHALY 615414
    Red PHC1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    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
    Phenotypes
    • Microcephaly 11, primary, autosomal recessive, 615414
    • MCPH11
    • Intellectural disability
    Tags
    • watchlist