Childhood solid tumours
Gene: NSD1
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
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Sotos syndrome 1, 117550
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.
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
Comment on list classification: Sotos syndrome is not associated with a high risk of malignancy.Created: 14 Feb 2016, 5:27 p.m.
Source NHS GMS was added to NSD1. Added phenotypes Sotos syndrome 1, 117550 for gene: NSD1
Source Expert List was added to NSD1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Mode of inheritance for NSD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
NSD1 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: UKGTN
NSD1 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Emory Genetics Laboratory
Model of inheritance for gene NSD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene NSD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NSD1 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Illumina TruGenome Clinical Sequencing Services
NSD1 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Radboud University Medical Center, Nijmegen