Hydrops fetalis
Gene: CCBE1

CCBE1 (collagen and calcium binding EGF domains 1)
EnsemblGeneIds (GRCh38): ENSG00000183287
EnsemblGeneIds (GRCh37): ENSG00000183287
OMIM: 612753, Gene2Phenotype
CCBE1 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

13 affected individuals from 8 unrelated families; with homozygous (missense) and compound heterozygous (missense/ nonsense) variants identified; two mouse studies; zebrafish functional analysis Commonly presents with facial abnormalities, lymphoedema in limbs, varied ID and low serum albumin levels.
Created: 7 Nov 2021, 9:38 p.m. | Last Modified: 7 Nov 2021, 9:38 p.m.

Panel Version: 0.208

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510

Publications

Created: 7 Nov 2021, 9:38 p.m.
Last Modified: 7 Nov 2021, 9:38 p.m.
Panel version: 0.208

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510

OMIM

612753

Clinvar variants

Variants in CCBE1

Penetrance

None

Publications

Panels with this gene