Fetal hydrops
Gene: CCBE1

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

3 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Rated as green, and mode of inheritance complete.
Created: 19 Dec 2016, 1:50 p.m.

Comment on list classification: Updated rating from Grey to Green: 2 Green reviews (including one from gene submitter). Confirmed DD gene for HKLLS1 (OMIM:235510). >3 unrelated cases of CBBE1 mutations causing HKLLS1 in OMIM, and sufficient link between HKLLS1 and Fetal hydrops in literature and Reviewer experience.
Created: 19 Dec 2016, 1:50 p.m.

PMID:12794699 (Bellini et al., 2003) report a female infant with congenital lymphedema, facial anomalies, intestinal lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary lymphangiectasia. Hydrops fetalis may be present in newborns with the Hennekam syndrome.
Created: 19 Dec 2016, 11:45 a.m.

CCBE1 is a confirmed DD gene for HKLLS1 (Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510), which can present with fetal hydrops. OMIM reports >3 unrelated cases of CBBE1 mutations causing HKLLS1.
Created: 15 Dec 2016, 1:54 p.m.

PMID:24086631 (Shah et al., 2013) report a homozygous CCBE1 missense mutation c.398 T>C (L133P) in two siblings from consanguineous parents of Mexican ancestry, one manifesting lymphedema-cholestasis syndrome (LCS), and the other, fetal hydrops.
Created: 15 Dec 2016, 1:47 p.m.

Comment on mode of inheritance: Mode of inheritance confirmed by OMIM and G2P.
Created: 15 Dec 2016, 1:43 p.m.

Created: 19 Dec 2016, 11:45 a.m.

Panel version: 0.82

Liona Poon (The Chinese University of Hong Kong)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hennekam lymphangiectasia-lymphedema syndrome; generalised lymphatic dysplasia; fetal hydrops

Publications

24086631

Created: 15 Dec 2016, 8:21 a.m.

Panel version: 0.9

Diana Wellesley (nhs)

Green List (high evidence)

Also personal experience of hydrops in this condition
Created: 22 Nov 2016, 10:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hennekam lymphangectasia lymphoedema syndrome

Publications

24086631

Created: 22 Nov 2016, 10:04 a.m.

Panel version: 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
generalised lymphatic dysplasia
fetal hydrops

OMIM

612753

Clinvar variants

Variants in CCBE1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

11 Mar 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CCBE1 were changed from Hennekam lymphangiectasia-lymphedema syndrome 1, 235510; generalised lymphatic dysplasia; fetal hydrops to Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510; generalised lymphatic dysplasia; fetal hydrops

21 Dec 2016, Gel status: 4