CCBE1

collagen and calcium binding EGF domains 1
OMIM: 612753, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green CCBE1 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.313	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510
Green CCBE1 in Interstitial Lung Disease Level 2: Respiratory disorders Version 1.0	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hennekam Syndrome, MIM#235510
Green CCBE1 in Lymphoedema_nonsyndromic Level 2: Cardiovascular disorders Version 0.39 Component of the following Super Panels: Vascular Malformations SuperPanel	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green CCBE1 in Mendeliome Version 1.1902	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 Combined Immunodeficiency Level 2: Immunological disorders Version 1.66 Component of the following Super Panels: Immunological disorders_SuperPanel	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 0.6063	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_syndromic Level 3: Lymphatic Disorders Level 2: Cardiovascular disorders Version 0.12 Component of the following Super Panels: Vascular Malformations SuperPanel	review	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 0.109	review	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 1.255	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 1.9	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 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3)