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Newborns main panel

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

1 review

Arina Puzriakova (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF)
Created: 31 Dec 2025, 2:36 p.m. | Last Modified: 31 Dec 2025, 2:36 p.m.
Panel Version: 0.499
PMID: 23653581 (13 cases), PMID: 38441203 (1 case), PMID: 36748365 (1 case), PMID: 32629717 (1 case), PMID: 27345729 (1 family, 2 cases), PMID: 25925991 (1 case), PMID: 26686525 (1 family)
Created: 31 Dec 2025, 2:27 p.m. | Last Modified: 31 Dec 2025, 2:27 p.m.
Panel Version: 0.498
Created: 31 Dec 2025, 2:27 p.m.
Last Modified: 31 Dec 2025, 2:27 p.m.
Panel version: 0.499

History Filter Activity

31 Dec 2025, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: CCBE1 was added gene: CCBE1 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCBE1 were set to Hennekam lymphangiectasia-lymphedema syndrome 1