1. Panels
  2. Monogenic short stature
  3. NIPBL
STRs in panel
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Monogenic short stature

Gene: NIPBL

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.
Created: 30 May 2019, 9:49 a.m.
Created: 30 May 2019, 9:49 a.m.

Copied from panel: Growth failure in early childhood v3.81

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Cornelia De Lange
OMIM
608667
Clinvar variants
Variants in NIPBL
Penetrance
None
Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: NIPBL was added gene: NIPBL was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NIPBL were set to Cornelia De Lange