CAKUT
Gene: NIPBL

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 13 variants reported. PMID 8291540 presents extensive evidence for renal involvement in 61 Cornelia de Lange syndrome 1 cases; including structural anomalies of the kidney system in 25 (41%): absent or poor corticomedullary differentiation (8 cases), pelvic dilation (6 cases), vesicoureteral reflux (5 cases), small kidney (3 cases), isolated renal cyst (3 cases), renal ectopia (2 cases), renal function reduced (9 cases).
Created: 21 May 2020, 2:38 p.m. | Last Modified: 26 May 2020, 2:18 p.m.

Panel Version: 1.148

Created: 21 May 2020, 2:38 p.m.
Last Modified: 26 May 2020, 2:18 p.m.
Panel version: 1.134

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Renal abnormalities, primarily vesicoureteral reflux, have been reported in 12%
Sources: Expert list
Created: 16 Jan 2020, 4:19 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cornelia de Lange syndrome 1, MIM# 122470

Publications

8291537

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2020, 4:19 a.m.

Panel version: 1.41

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green

Phenotypes

Cornelia de Lange syndrome 1 122470

OMIM

608667

Clinvar variants

Variants in NIPBL

Penetrance

None

Publications

Panels with this gene