Severe microcephaly
Gene: NIPBL

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.

Panel Version: 1.62

Created: 29 Jul 2019, 4:18 p.m.
Last Modified: 29 Jul 2019, 4:18 p.m.
Panel version: 1.62

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green: Confirmed DD-G2P gene for 'Conelia de Lange syndrome'. >3 cases reported of NIPBL variants causing CdLS, including at least 2 with microcephaly (PMID:27164022)
Created: 2 Mar 2017, 1:04 p.m.

Although the Cornelia de Lange syndromes (CdLS) are not part of the primary dwarfism spectrum and typically present with additional features other than microcephaly, they are included in this panel after clinical discussion, since a small proportion of cases may overlap with the microcephaly primary dwarfism spectrum.
Created: 2 Mar 2017, 1:03 p.m.

Created: 2 Mar 2017, 1:03 p.m.

Panel version: 0.160

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green
Literature

Phenotypes

Cornelia de Lange syndrome 1, 122470 (includes microcephaly)

OMIM

608667

Clinvar variants

Variants in NIPBL

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to NIPBL.

2 Mar 2017, Gel status: 4