Severe microcephaly

Gene: NIPBL

Green List (high evidence)

NIPBL (NIPBL, cohesin loading factor)
EnsemblGeneIds (GRCh38): ENSG00000164190
EnsemblGeneIds (GRCh37): ENSG00000164190
OMIM: 608667, Gene2Phenotype
NIPBL is in 12 panels

1 review

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • 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

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

2 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

2 Mar 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for NIPBL were set to 15146185; 27164022

2 Mar 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

NIPBL was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Literature

2 Mar 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

NIPBL was created by rfoulger