Skeletal dysplasia
Gene: NSD1
Overgrowth (tall stature) syndromes with skeletal involvement. >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Sotos syndrome 1 117550
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: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported in Sotos syndrome 1 117550Created: 29 Jul 2016, 9:10 a.m.
Comment on phenotypes: The gene also associated with Beckwith-Wiedemann syndrome 130650 and Leukemia, acute myeloid 601626Created: 29 Jul 2016, 9:10 a.m.
Tier 2Created: 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
Added phenotypes Sotos syndrome 1 117550 for gene: NSD1
Source NHS GMS was added to NSD1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for NSD1 were set to Sotos syndrome 1 117550
Mode of inheritance for NSD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
NSD1 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
NSD1 was added to Unexplained skeletal dysplasiapanel. Sources:
NSD1 was created by sleigh