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Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: CCBE1

Red List (low evidence)

CCBE1 (collagen and calcium binding EGF domains 1)
EnsemblGeneIds (GRCh38): ENSG00000183287
EnsemblGeneIds (GRCh37): ENSG00000183287
OMIM: 612753, Gene2Phenotype
CCBE1 is in 11 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Dysmorphic but no CSS mentioned specifically (HMG 2014 133:1161). On Fulgent CSS panel. Genetically heterogeneous condition: Also FAT4. ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Hennekam-lymphangiectasia-lymphedema syndrome 1 - 235510

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: CCBE1; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.

History Filter Activity

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Hennekam-lymphangiectasia-lymphedema syndrome 1 235510 for gene: CCBE1

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: CCBE1 was added gene: CCBE1 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: CCBE1 was set to