CENPE

centromere protein E
OMIM: 117143, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red CENPE in Mendeliome


Version 1.4541

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 13, primary, autosomal recessive (MIM#616051)

Red CENPE in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.418

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 13, primary, autosomal recessive (MIM#616051)

Red CENPE in Fetal anomalies


Version 1.542

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Microcephaly 13, primary, autosomal recessive (MIM#616051)