GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: NIPBL

NIPBL (NIPBL, cohesin loading factor)
EnsemblGeneIds (GRCh38): ENSG00000164190
EnsemblGeneIds (GRCh37): ENSG00000164190
OMIM: 608667, Gene2Phenotype
NIPBL is in 13 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Limb hypoplasia-reduction defects gp of SD, several cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cornelia de Lange syndrome 1 122470

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

Cornelia de Lange syndrome 1 122470

OMIM

608667

Clinvar variants

Variants in NIPBL

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: NIPBL was added gene: NIPBL was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NIPBL were set to Cornelia de Lange syndrome 1 122470

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: NIPBL