Vascular skin disorders
Gene: CCBE1EnsemblGeneIds (GRCh38): ENSG00000183287
EnsemblGeneIds (GRCh37): ENSG00000183287
OMIM: 612753, Gene2Phenotype
CCBE1 is in 10 panels
5 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before demoting this gene to red.Created: 4 Dec 2024, 10:11 p.m. | Last Modified: 4 Dec 2024, 10:11 p.m.
Panel Version: 1.65
Arina Puzriakova (Genomics England Curator)
Inclusion of CCBE1 should be reassessed in light of the Red review by Zornitza Stark (Australian Genomics).
CCBE1 causes Hennekam syndrome which can include generalised lymph-vessel dysplasia but does not seem to clinically present with vascular skin manifestations. Unclear whether the phenotype is within the scope of the panel and therefore flagging for further clinical specialist review.Created: 11 Mar 2024, 4:37 p.m. | Last Modified: 11 Mar 2024, 4:37 p.m.
Panel Version: 1.56
Zornitza Stark (Australian Genomics)
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
Rebecca Foulger (Genomics England curator)
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
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
- Tags
- OMIM
- 612753
- Clinvar variants
- Variants in CCBE1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_24_demote_red was removed from gene: CCBE1. Tag Q1_24_expert_review was removed from gene: CCBE1. Tag to_be_confirmed_NHSE tag was added to gene: CCBE1.
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q1_24_demote_red tag was added to gene: CCBE1. Tag Q1_24_expert_review tag was added to gene: CCBE1.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CCBE1 were changed from Hennekam lymphangiectasia-lymphoedema syndrome to Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: CCBE1 were set to
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to CCBE1.
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