Lymphoedema_syndromic
Gene: CCBE1
CCBE1 (collagen and calcium binding EGF domains 1)
EnsemblGeneIds (GRCh38): ENSG00000183287
EnsemblGeneIds (GRCh37): ENSG00000183287
OMIM: 612753, Gene2Phenotype
CCBE1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000183287
EnsemblGeneIds (GRCh37): ENSG00000183287
OMIM: 612753, Gene2Phenotype
CCBE1 is in 12 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London South GLH
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Hennekam Lymphangiectasia-Lymphedema Syndrome
- Hennekam lymphangiectasia-lymphedema syndrome, 235510
- OMIM
- 612753
- Clinvar variants
- Variants in CCBE1
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Fetal anomalies
- Prepair 1000+
- Pulmonary Fibrosis_Interstitial Lung Disease
- Mendeliome
- Lymphoedema_syndromic
- Hydrops fetalis
- Prepair 500+
- Lymphoedema_nonsyndromic
- Interstitial Lung Disease
- Intellectual disability syndromic and non-syndromic
History Filter Activity
29 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Sue White (Victorian Clinical Genetics Services)gene: CCBE1 was added gene: CCBE1 was added to Lymphoedema_syndromic. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert Review Green,London South GLH Mode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCBE1 were set to Hennekam Lymphangiectasia-Lymphedema Syndrome; Hennekam lymphangiectasia-lymphedema syndrome, 235510