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BabyScreen+ newborn screening

Gene: NIPBL

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cornelia de Lange syndrome 1, MIM# 122470

Created: 6 Oct 2022, 2:45 a.m.
Last Modified: 6 Oct 2022, 2:45 a.m.
Panel version: 0.440

David Amor (Murdoch Children's Research Institute)

Red List (low evidence)

Gene-disease association: strong. The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies.

Severity: severe

Age of onset: congenital

Non-molecular confirmatory testing: no

Treatment: symptomatic only therefore exclude
Created: 5 Oct 2022, 12:32 a.m. | Last Modified: 5 Oct 2022, 12:32 a.m.
Panel Version: 0.274

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cornelia de Lange syndrome 1

Created: 5 Oct 2022, 12:32 a.m.
Last Modified: 5 Oct 2022, 12:32 a.m.
Panel version: 0.274

History Filter Activity

6 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nipbl has been classified as Red List (Low Evidence).

6 Oct 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NIPBL were changed from Cornelia de Lange syndrome to Cornelia de Lange syndrome 1, MIM# 122470

6 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nipbl has been classified as Red List (Low Evidence).

18 Sep 2022, 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 gNBS. Sources: BabySeq Category A gene,Expert Review Green 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 syndrome