CCBE1

collagen and calcium binding EGF domains 1
OMIM: 612753, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green CCBE1 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510
Green CCBE1 in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510 lymphangiectasia and lymphoedema facial abnormalities dysmorphic features hypoalbuminaemia intellectual disability hypoglobulinaemia
Green CCBE1 in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510
Green CCBE1 in Combined Immunodeficiency Level 2: Immunological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510 lymphangiectasia and lymphoedema facial abnormalities dysmorphic features hypoalbuminaemia intellectual disability hypoglobulinaemia
Green CCBE1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510 lymphangiectasia and lymphoedema facial abnormalities dysmorphic features hypoalbuminaemia intellectual disability hypoglobulinaemia
Green CCBE1 in Lymphoedema Level 3: Lymphatic Disorders Level 2: Cardiovascular disorders Version 1.0	0 reviews	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
Green CCBE1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3)
Green CCBE1 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510
Green CCBE1 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3)
Green CCBE1 in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hennekam lymphangiectasia-lymphoedema syndrome 1 MIM#235510