Microcephaly

Gene: CENPE

Red List (low evidence)

PMID: 24748105;
- 2 siblings from non-consanguineous family of European descent
- patient A: at birth, OFC of -5SD which progressed to -9SD at 5 years of age
- patient B: no measurement at birth but OFC was -7SD at 3 years of age
- cHet for 2 missense

*no new reports since. A review of AR primary microcephaly in 2018 still states just 1 family (PMID: 30086807)

Created: 2 Sep 2020, 3:06 a.m. | Last Modified: 2 Sep 2020, 3:06 a.m.

Panel Version: 0.273

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 13, primary, autosomal recessive (MIM#616051)

Publications

• 24748105
• 30086807