Microcephaly
Gene: CDK5RAP2

CDK5RAP2 (CDK5 regulatory subunit associated protein 2)
EnsemblGeneIds (GRCh38): ENSG00000136861
EnsemblGeneIds (GRCh37): ENSG00000136861
OMIM: 608201, Gene2Phenotype
CDK5RAP2 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families and an animal model support gene-disease association. In addition to microcephaly and ID, a recent series of 7 deeply phenotyped individuals also reported small cochlea with incomplete partition type II was found in all cases, which was associated with progressive deafness in 4. Microphthalmia was also present in all along with retinal pigmentation changes and lipofuscin deposits. Finally, hypothalamic anomalies consisting of interhypothalamic adhesions, a congenital midline defect usually associated with holoprosencephaly, was detected in 5 cases.
Created: 9 Mar 2021, 9:52 a.m. | Last Modified: 9 Mar 2021, 9:52 a.m.

Panel Version: 0.531

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488

Publications

Created: 9 Mar 2021, 9:52 a.m.
Last Modified: 9 Mar 2021, 9:52 a.m.
Panel version: 0.531

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Microcephaly 3, primary, autosomal recessive, MIM# 604804
MONDO:0011488

OMIM

608201

Clinvar variants

Variants in CDK5RAP2

Penetrance

None

Publications

Panels with this gene