Vascular skin disorders

Gene: CCBE1

Green List (high evidence)

CCBE1 (collagen and calcium binding EGF domains 1)
EnsemblGeneIds (GRCh38): ENSG00000183287
EnsemblGeneIds (GRCh37): ENSG00000183287
OMIM: 612753, Gene2Phenotype
CCBE1 is in 10 panels

3 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Presentation is typically with lymphangiectasia and lymphoedema rather than vascular skin lesions.
Created: 2 Jul 2020, 2:54 a.m. | Last Modified: 2 Jul 2020, 2:54 a.m.
Panel Version: 1.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hennekam lymphangiectasia-lymphedema syndrome 1 235510

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Publications

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: CCBE1; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 12:05 p.m.

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Hennekam lymphangiectasia-lymphoedema syndrome
OMIM
612753
Clinvar variants
Variants in CCBE1
Penetrance
None
Panels with this gene

History Filter Activity

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to CCBE1.

31 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: CCBE1 was added gene: CCBE1 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCBE1 were set to Hennekam lymphangiectasia-lymphoedema syndrome