CENPE

centromere protein E
OMIM: 117143, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red CENPE in Mendeliome


Version 1.1902

review 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 1.269

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

Red CENPE in Microcephalic Primordial Dwarfism and Slender bone dysplasias

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.29

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 1.255

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