Ciliopathies
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 fetus/infants) with a homozygous PTC and MARCH syndrome (multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly). Postmorten MRI had no mention of molar tooth sign (MTS). Zebrafish model showed gross developmental defects, no mention of ciliopathy phenotypes.

PMID: 28295209 - 1 family (2 fetuses) with Meckel-gruber syndrome and a homozygous PTC. No polydactyly but encephalocele present, healthy sibling was heterozygous for the variant.

PMID: 32100459 - 5 unrelated families (7 patients), all share a recurring missense (p.Glu24Lys) in trans with a PTC. MRI performed on 6 patients did not mention MTS. Aurthors speculate the chet missense/PTC is a milder phenotype.

Summary: 2 reports of ciliopathy-based phenotype, both with bilallelic for PTCs.
Created: 4 May 2020, 6:09 a.m. | Last Modified: 4 May 2020, 6:09 a.m.

Panel Version: 0.78

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 4 May 2020, 6:09 a.m.
Last Modified: 4 May 2020, 6:09 a.m.
Panel version: 0.78

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, MIM# 236500

OMIM

610000

Clinvar variants

Variants in CEP55

Penetrance

None

Publications

Panels with this gene