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  3. NIPBL
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Fetal anomalies

Gene: NIPBL

Green List (high evidence)
NIPBL (NIPBL, cohesin loading factor)
EnsemblGeneIds (GRCh38): ENSG00000164190
EnsemblGeneIds (GRCh37): ENSG00000164190
OMIM: 608667, Gene2Phenotype
NIPBL is in 17 panels

2 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Congenital anomalies can be part of presentation including diaphragmatic hernia, phocomelia, microcephaly, growth restriction, congenital heart anomalies
Created: 2 Mar 2022, 10:38 p.m. | Last Modified: 2 Mar 2022, 10:38 p.m.
Panel Version: 0.4654

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cornelia de Lange syndrome 1, MIM# 122470

Created: 2 Mar 2022, 10:38 p.m.
Last Modified: 2 Mar 2022, 10:38 p.m.
Panel version: 0.4654

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

CDH is a recognised feature.
Created: 20 Jun 2021, 10:11 a.m. | Last Modified: 20 Jun 2021, 10:11 a.m.
Panel Version: 0.58

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cornelia de Lange syndrome 1, MIM# 122470

Created: 20 Jun 2021, 10:11 a.m.
Last Modified: 20 Jun 2021, 10:11 a.m.
Panel version: Imported from Congenital diaphragmatic hernia panel version 0.58

History Filter Activity

2 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: nipbl has been classified as Green List (High Evidence).

2 Mar 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: NIPBL were changed from CORNELIA DE LANGE SYNDROME TYPE 1 to Cornelia de Lange syndrome 1, MIM# 122470

2 Mar 2022, Gel status: 3

Set mode of inheritance

Alison Yeung (Victorian Clinical Genetics Services)

Mode of inheritance for gene: NIPBL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NIPBL was added gene: NIPBL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NIPBL were set to CORNELIA DE LANGE SYNDROME TYPE 1