Limb disorders
Gene: NIPBLComment when marking as ready: Causation is clear. CdLS is associated with variable limb defects, which can include radii / thumbs therefore included.Created: 11 May 2017, 12:33 p.m.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 12 Jul 2016, 10:15 a.m.
Tier 3Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cornelia de Lange syndrome 1 122470
Variants in this GENE are reported as part of current diagnostic practice
Ana Beleza: Tier 3
Mode of inheritance for gene NIPBL was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes CDLS1; Cornelia de Lange syndrome 1, 122470; Dislocation of the radial head; upper limb anomalies for gene: NIPBL
Expert Review Green was added to NIPBL. Panel: Limb disorders UKGTN was added to NIPBL. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to NIPBL. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to NIPBL. Panel: Limb disorders Expert list was added to NIPBL. Panel: Limb disorders Emory Genetics Laboratory was added to NIPBL. Panel: Limb disorders Model of inheritance for gene NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
London South East RGC GSTT was added to NIPBL. Panel: Limb disorders
NIPBL was added to Limb disorders panel. Sources: Viapath
NIPBL was created by Ellen McDonagh