NIPBL

NIPBL, cohesin loading factor
OMIM: 608667
PanelMode of inheritanceDetails
7 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CORNELIA DE LANGE SYNDROME 1, CDLS1
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CORNELIA DE LANGE SYNDROME TYPE 1 122470
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CORNELIA DE LANGE SYNDROME TYPE 1
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cornelia de Lange syndrome 1, 122470, CORNELIA DE LANGE SYNDROME TYPE 1 (CDLS1)
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CDLS1, upper limb anomalies, Cornelia de Lange syndrome 1 122470, Dislocation of the radial head, Cornelia de Lange syndrome 1, 122470
R-numbers: R88
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cornelia de Lange syndrome 1, 122470 (includes microcephaly)
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cornelia de Lange syndrome 1 122470