Lymphoedema_syndromic
Gene: NSD1
NSD1 (nuclear receptor binding SET domain protein 1)
EnsemblGeneIds (GRCh38): ENSG00000165671
EnsemblGeneIds (GRCh37): ENSG00000165671
OMIM: 606681, Gene2Phenotype
NSD1 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000165671
EnsemblGeneIds (GRCh37): ENSG00000165671
OMIM: 606681, Gene2Phenotype
NSD1 is in 17 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Sotos syndrome 1 117550
- OMIM
- 606681
- Clinvar variants
- Variants in NSD1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Overgrowth
- Hyperinsulinism
- Lymphoedema_syndromic
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Hydrocephalus_Ventriculomegaly
- Macrocephaly_Megalencephaly
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mendeliome
- Congenital diaphragmatic hernia
- Callosome
- Cerebral Palsy
- Autism
History Filter Activity
29 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sue White (Victorian Clinical Genetics Services)gene: NSD1 was added gene: NSD1 was added to Lymphoedema_syndromic. Sources: Expert list,Expert Review Green Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NSD1 were set to 26738611; 9781911 Phenotypes for gene: NSD1 were set to Sotos syndrome 1 117550