PHC1

polyhomeotic homolog 1
OMIM: 602978, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red PHC1 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.74

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 1.148

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • PRIMARY MICROCEPHALY 615414

Red PHC1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.1098

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Microcephaly 11, primary, autosomal recessive, 615414
  • MCPH11
  • Intellectural disability
Tags
  • watchlist