Childhood solid tumours
Gene: NSD1EnsemblGeneIds (GRCh38): ENSG00000165671
EnsemblGeneIds (GRCh37): ENSG00000165671
OMIM: 606681, Gene2Phenotype
NSD1 is in 11 panels
5 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Lara Hawkes (Genomics England)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Sotos syndrome 1, 117550
Richard Scott (Genomics England Curator)
Comment on list classification: Sotos syndrome is not associated with a high risk of childhood tumours but the risk is elevated (probably ~3%).Created: 7 Mar 2016, 11:35 p.m.
Richard Scott (North Thames GMC/UCL)
Sotos syndrome is not associated with a high risk of childhood tumours but the risk is elevated (probably ~3%).Created: 7 Mar 2016, 11:08 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
117550
Publications
Ellen Thomas (Genomics England Curator)
Comment on list classification: Sotos syndrome is not associated with a high risk of malignancy.Created: 14 Feb 2016, 5:27 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert List
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Leukemia, acute myeloid, 601626 (1) Beckwith-Wiedemann syndrome, 130650
- Sotos Syndrome
- Weaver Syndrome
- Sotos syndrome 1, 117550
- OMIM
- 606681
- Clinvar variants
- Variants in NSD1
- Penetrance
- Complete
- 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
Added New Source, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to NSD1. Added phenotypes Sotos syndrome 1, 117550 for gene: NSD1
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert List was added to NSD1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for NSD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)NSD1 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: UKGTN
Added New Source
Eik Haraldsdottir (Genomics England)NSD1 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Emory Genetics Laboratory
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene NSD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene NSD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Eik Haraldsdottir (Genomics England)NSD1 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Eik Haraldsdottir (Genomics England)NSD1 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Radboud University Medical Center, Nijmegen