Skeletal dysplasia
Gene: NSD1

NSD1 (nuclear receptor binding SET domain protein 1)
EnsemblGeneIds (GRCh38): ENSG00000165671
EnsemblGeneIds (GRCh37): ENSG00000165671
OMIM: 606681, Gene2Phenotype
NSD1 is in 11 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Overgrowth (tall stature) syndromes with skeletal involvement. >3 cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Sotos syndrome 1 117550

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: NSD1; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported in Sotos syndrome 1 117550
Created: 29 Jul 2016, 9:10 a.m.

Comment on phenotypes: The gene also associated with Beckwith-Wiedemann syndrome 130650 and Leukemia, acute myeloid 601626
Created: 29 Jul 2016, 9:10 a.m.

Created: 29 Jul 2016, 9:10 a.m.

Panel version: 0.1001

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Sotos syndrome 1 117550

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:06 a.m.

Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green
Expert list
UKGTN
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Sotos syndrome 1 117550

OMIM

606681

Clinvar variants

Variants in NSD1

Penetrance

Complete

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Sotos syndrome 1 117550 for gene: NSD1

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to NSD1. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4