CENPE

centromere protein E
OMIM: 117143, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red CENPE in Mendeliome


Version 2.588

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 2.32

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 Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.151

3 reviews 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 2.81

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