CCBE1

collagen and calcium binding EGF domains 1
OMIM: 612753
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 235510
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hennekam lymphangiectasia-lymphedema syndrome, 235510, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME (HLLS)
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hennekam lymphangiectasia-lymphedema syndrome 1, 235510, Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features, Combined immunodeficiencies with associated or syndromic features
R-numbers: R136
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hennekam lymphangiectasia-lymphedema syndrome, 235510, Hennekam Lymphangiectasia-Lymphedema Syndrome
R-numbers: R326
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hennekam lymphangiectasia-lymphoedema syndrome