Genomics England

NIPBL

NIPBL, cohesin loading factor

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 5.3	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 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes CORNELIA DE LANGE SYNDROME TYPE 1 122470
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes CORNELIA DE LANGE SYNDROME TYPE 1
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cornelia de Lange syndrome 1, 122470, CORNELIA DE LANGE SYNDROME TYPE 1 (CDLS1)
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 5.4	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
Green in Severe microcephaly R-numbers: R88 Signed-off version 5.7	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cornelia de Lange syndrome 1, 122470 (includes microcephaly)
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cornelia de Lange syndrome 1 122470