PHC1

polyhomeotic homolog 1
OMIM: 602978, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber PHC1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 11, primary, autosomal recessive, MIM#615414

Amber PHC1 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 11, primary, autosomal recessive, MIM#615414

Amber PHC1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Microcephaly 11, primary, autosomal recessive, MIM#615414

Red PHC1 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Microcephaly 11, primary, autosomal recessive, MIM#615414