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Radial dysplasia

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: 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
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Cornelia de Lange syndrome 1, 122470
  • CDLS1
  • Dislocation of the radial head
  • upper limb anomalies
OMIM
608667
Clinvar variants
Variants in NIPBL
Penetrance
Complete
Panels with this gene

History Filter Activity

23 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Dec 2016, Gel status: 0

Upload gene information

Rebecca Foulger (Genomics England curator)

NIPBL was added to Radial dysplasiapanel. Sources: Expert list

5 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

NIPBL was added to Radial dysplasiapanel. Source: Expert list

5 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

NIPBL was created by rfoulger

5 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

NIPBL was added to Radial dysplasiapanel. Sources: Other