This Panel is marked as Retired
Multiple Tumours
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
1 review
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:46 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Sotos Syndrome
- Neuroblastoma
- Presacral ganglioma
- Sacrococcygeal teratoma
- Lymphoid hematological malignancy (leukemia)
- Paediatric congenital malformation-dysmorphism-tumour syndromes
- OMIM
- 606681
- Clinvar variants
- Variants in NSD1
- Penetrance
- Complete
- Panels with this gene
-
- Primary lymphoedema
- Intellectual disability
- Skeletal dysplasia
- DDG2P
- Early onset or syndromic epilepsy
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Hydrocephalus
- Fetal anomalies
- Congenital hyperinsulinism
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
History Filter Activity
9 Mar 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)NSD1 was added to Multiple Tumourspanel. Source: Expert Review Green
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NSD1 was created by ellenmcdonagh
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)NSD1 was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)