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  2. Pulmonary Fibrosis_Interstitial Lung Disease
  3. CCBE1
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Pulmonary Fibrosis_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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert list
Created: 26 Jul 2024, 8:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510

Created: 26 Jul 2024, 8:17 a.m.

Panel version: 0.76

History Filter Activity

19 Aug 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CCBE1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal

26 Jul 2024, 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).

26 Jul 2024, 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).

26 Jul 2024, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CCBE1 was added gene: CCBE1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert list Mode of inheritance for gene: CCBE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CCBE1 were set to Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510 Review for gene: CCBE1 was set to GREEN