Vascular skin disorders
Gene: CCBE1Inclusion 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
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
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
Tag Q1_24_demote_red tag was added to gene: CCBE1. Tag Q1_24_expert_review tag was added to gene: CCBE1.
Phenotypes for gene: CCBE1 were changed from Hennekam lymphangiectasia-lymphoedema syndrome to Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
Publications for gene: CCBE1 were set to
Source London North GLH was added to CCBE1.
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