Fetal hydrops

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

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.

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 1, 235510
  • generalised lymphatic dysplasia
  • fetal hydrops
OMIM
612753
Clinvar variants
Variants in CCBE1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Dec 2016, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for CCBE1 were set to 24086631; 12794699

15 Dec 2016, Gel status: 0

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for CCBE1 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Dec 2016, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for CCBE1 were set to Hennekam lymphangiectasia-lymphedema syndrome 1, 235510; generalised lymphatic dysplasia; fetal hydrops

14 Nov 2016, Gel status: 0

Added New Source

Diana Wellesley (nhs)

CCBE1 was added to Fetal hydropspanel. Sources: Literature,Other

14 Nov 2016, Gel status: 0

Created

Diana Wellesley (nhs)

CCBE1 was created by dgw