Cerebellar and Pontocerebellar Hypoplasia
Gene: CEP55

CEP55 (centrosomal protein 55)
EnsemblGeneIds (GRCh38): ENSG00000138180
EnsemblGeneIds (GRCh37): ENSG00000138180
OMIM: 610000, Gene2Phenotype
CEP55 is in 7 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 28264986 - 1 family (3 fetuses) with a homozygous PTC and cerebellar hypoplasia. Functional assay using mutant zebrafish also show cerebellar hypoplasia

PMID: 32100459 - 4 unrelated patients and 3 siblings reported, brain abnormalities noted but none specificy cerebellar atrophy/hypoplasia etc. Brainstem and cerebellar hypoplasia specifically noted as NEGATIVE in ALL patients 7/7.

PMID: 28295209 - 1 family (2 fetuses) with a homozygous PTC. One fetus had a cerebral cyst, the other non-visualized cerebellum

AMBER - single report with convincing evidence, interesting that the model shows this phenotype.
Created: 20 Apr 2020, 12:12 a.m. | Last Modified: 20 Apr 2020, 12:12 a.m.

Panel Version: 0.32

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 236500

Publications

Created: 20 Apr 2020, 12:12 a.m.
Last Modified: 20 Apr 2020, 12:12 a.m.
Panel version: 0.32

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 236500

OMIM

610000

Clinvar variants

Variants in CEP55

Penetrance

None

Publications

Panels with this gene