Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: CEP120

CEP120 (centrosomal protein 120)
EnsemblGeneIds (GRCh38): ENSG00000168944
EnsemblGeneIds (GRCh37): ENSG00000168944
OMIM: 613446, Gene2Phenotype
CEP120 is in 10 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

No skeletal defects reported in the Joubert cases (OMIM). CSS not mentioned for the thoracic dysplasia cases either. On Fulgent CSS panel. ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Phenotypes
Joubert syndrome 31; short rib thoracic dysplasia 13 +/- polydactyly

Created: 5 Mar 2019, 11:33 a.m.

Panel version: 1.47

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: CEP120; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.

Created: 5 Mar 2019, 11:21 a.m.

Panel version: 1.46

Details

Sources

NHS GMS

Phenotypes

short rib thoracic dysplasia 13 +/- polydactyly
Joubert syndrome 31

OMIM

613446

Clinvar variants

Variants in CEP120

Penetrance

None

Panels with this gene

History Filter Activity

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes short rib thoracic dysplasia 13 +/- polydactyly; Joubert syndrome 31 for gene: CEP120

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: CEP120 was added gene: CEP120 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: CEP120 was set to

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: CEP120