Growth failure
Gene: NIPBLEnsemblGeneIds (GRCh38): ENSG00000164190
EnsemblGeneIds (GRCh37): ENSG00000164190
OMIM: 608667, Gene2Phenotype
NIPBL is in 17 panels
1 review
Chirag Patel (Genetic Health Queensland)
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. CDLS1, caused by mutation in the NIPBL gene, accounts for about 50 to 60% of CDLS cases. Very well established gene-disease association.Created: 19 Aug 2021, 4:46 a.m. | Last Modified: 19 Aug 2021, 4:46 a.m.
Panel Version: 0.215
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cornelia de Lange syndrome 1, OMIM # 122470
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- Cornelia de Lange syndrome 1, MIM # 122470
- OMIM
- 608667
- Clinvar variants
- Variants in NIPBL
- Penetrance
- None
- Publications
- Panels with this gene
-
- Clefting disorders
- Microcephaly
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Hypertrichosis syndromes
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
- Hand and foot malformations
- Radial Ray Abnormalities
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mendeliome
- Congenital diaphragmatic hernia
- Growth failure
- Autism
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nipbl has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NIPBL were changed from Cornelia De Lange to Cornelia de Lange syndrome 1, MIM # 122470
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: NIPBL were set to
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: nipbl has been classified as Green List (High Evidence).
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 Growth failure in early childhood. Sources: Genomics England PanelApp,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