Genomics England

CCBE1

collagen and calcium binding EGF domains 1

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 235510
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
Green in Intestinal failure or congenital diarrhoea R-numbers: R331 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	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 in Primary lymphoedema R-numbers: R136 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hennekam lymphangiectasia-lymphedema syndrome, 235510, Hennekam Lymphangiectasia-Lymphedema Syndrome
Green in Vascular skin disorders R-numbers: R326 Signed-off version 1.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hennekam lymphangiectasia-lymphoedema syndrome