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Interstitial Lung Disease

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 12 panels

1 review

Suzanna Lindsey-Temple (Liverpool Hospital)

Green List (high evidence)

At least 3 unrelated families reported. Associated with pulmonary lymphangiectasia as part of Hennekam syndrome. Animal models and functional data.
Created: 6 Nov 2021, 1:13 a.m. | Last Modified: 6 Nov 2021, 1:13 a.m.
Panel Version: 0.183

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM#235510: Hennekam Syndrome

Publications

Created: 6 Nov 2021, 1:13 a.m.
Last Modified: 6 Nov 2021, 1:13 a.m.
Panel version: 0.183

History Filter Activity

7 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccbe1 has been classified as Green List (High Evidence).

7 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CCBE1 were changed from to Hennekam Syndrome, MIM#235510

7 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CCBE1 were set to

7 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CCBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CCBE1 was added gene: CCBE1 was added to Interstitial Lung Disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CCBE1 was set to Unknown