Growth failure
Gene: CEP57

CEP57 (centrosomal protein 57)
EnsemblGeneIds (GRCh38): ENSG00000166037
EnsemblGeneIds (GRCh37): ENSG00000166037
OMIM: 607951, Gene2Phenotype
CEP57 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mosaic Variegated Aneuploidy Syndrome (MVA) is a rare autosomal recessive disorder characterized by mosaic aneuploidies involving multiple chromosomes and tissues. Affected individuals typically present with severe intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, developmental delay and predisposition to cancer and epilepsy.
Created: 15 Aug 2021, 4:36 a.m. | Last Modified: 15 Aug 2021, 4:36 a.m.

Panel Version: 0.122

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mosaic variegated aneuploidy syndrome 2, #MIM 614114

Publications

Created: 15 Aug 2021, 4:34 a.m.
Last Modified: 15 Aug 2021, 4:34 a.m.
Panel version: 0.125

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

Mosaic variegated aneuploidy syndrome 2, MIM#614114

OMIM

607951

Clinvar variants

Variants in CEP57

Penetrance

None

Publications

Panels with this gene