CCBE1

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

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green CCBE1 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.324	1 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	1 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 0.44 Component of the following Super Panels: Vascular Malformations SuperPanel	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green CCBE1 in Mendeliome Version 1.2302	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 0.84	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 1.114 Component of the following Super Panels: Immunological disorders_SuperPanel	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 1.63	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_syndromic Level 3: Lymphatic Disorders Level 2: Cardiovascular disorders Version 0.12 Component of the following Super Panels: Vascular Malformations SuperPanel	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 0.109	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 1.313	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 1.1566	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 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3)