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Limb disorders

Gene: NIPBL

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

3 reviews

Helen Brittain (Genomics England Curator)

Comment 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.
Created: 11 May 2017, 12:33 p.m.

Panel version: Imported from Radial dysplasia panel version 0.108

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.
Created: 12 Jul 2016, 10:15 a.m.
Created: 12 Jul 2016, 10:15 a.m.

Panel version: Imported from Unexplained skeletal dysplasia panel version 0.545

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 3
Created: 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

Created: 17 Jun 2016, 8:06 a.m.

Panel version: Imported from Unexplained skeletal dysplasia panel version 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • CDLS1
  • upper limb anomalies
  • Cornelia de Lange syndrome 1 122470
  • Dislocation of the radial head
  • Cornelia de Lange syndrome 1, 122470
OMIM
608667
Clinvar variants
Variants in NIPBL
Penetrance
None
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 3

16 Oct 2018, Gel status: 4

Set mode of inheritance, Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

5 Apr 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

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

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to NIPBL. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NIPBL was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

NIPBL was created by Ellen McDonagh