CCBE1

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

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green CCBE1 in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.95	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Other Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510 generalised lymphatic dysplasia fetal hydrops
Green CCBE1 in COVID-19 research Level 2: Viral research Version 1.147	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 North West GLH Victorian Clinical Genetics Services Expert Review Green NHS GMS North West GLH London North GLH Expert Review Green IUIS Classification February 2018 Victorian Clinical Genetics Services GRID V2.0 Phenotypes Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features Combined immunodeficiencies with associated or syndromic features Hennekam lymphangiectasia-lymphedema syndrome 1, 235510
Green CCBE1 in Intestinal failure or congenital diarrhoea Level 2: Gastrohepatology Version 3.7 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
Green CCBE1 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.85 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services GRID V2.0 Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510 Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features Combined immunodeficiencies with associated or syndromic features
Green CCBE1 in Vascular skin disorders Level 2: Dermatology Version 2.5 Latest signed off version: v2.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510 Tags to_be_confirmed_NHSE
Green CCBE1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.169 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
Red CCBE1 in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 6.4 Latest signed off version: v6.0 (30 Apr 2025)	review	Not set	Sources NHS GMS Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
Green CCBE1 in DDG2P Version 6.438 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 235510
Green CCBE1 in Intellectual disability Level 2: Developmental disorders Version 9.330 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
Green CCBE1 in Primary lymphoedema Level 2: Cardiology Version 4.21 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London South GLH Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510