Childhood solid tumours cancer susceptibility
Gene: NSD1
NSD1 (nuclear receptor binding SET domain protein 1)
EnsemblGeneIds (GRCh38): ENSG00000165671
EnsemblGeneIds (GRCh37): ENSG00000165671
OMIM: 606681, Gene2Phenotype
NSD1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000165671
EnsemblGeneIds (GRCh37): ENSG00000165671
OMIM: 606681, Gene2Phenotype
NSD1 is in 11 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Sotos syndrome 1, 117550
- OMIM
- 606681
- Clinvar variants
- Variants in NSD1
- Penetrance
- None
- Panels with this gene
-
- Hydrocephalus
- Early onset or syndromic epilepsy
- Childhood solid tumours
- DDG2P
- Intellectual disability
- Fetal anomalies
- Skeletal dysplasia
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Primary lymphoedema
- Congenital hyperinsulinism
- Childhood solid tumours cancer susceptibility
History Filter Activity
26 Mar 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: NSD1 was added gene: NSD1 was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NSD1 were set to Sotos syndrome 1, 117550