Early onset or syndromic epilepsy
Gene: NSD1
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
AD Sotos syndrome - characterised by excessively rapid growth, acromegalic features and a non-progressive cerebral disorder with MR. nonspecific EEG changes and seizures have been observed. Microdeletionsof 5q35 as well as point mutations. Tatton-Brown et al, 2005 - table 3 showing clinical features of patients with recurring NSD1 mutations - 14/51 had seizures reported as part of the phenotype. They class seizures as a major feature.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Leukemia, acute myeloid, 601626; Sotos syndrome 1, 117550
Publications
Comment on list classification: Promoted from amber to green. NSD1 is confirmed to be associated with Sotos syndrome on OMIM and Gene2Phenotype, and both databases have listed seizures as a phenotype. GeneReviews stated that ~25% of Sotos syndrome patients have seizures. A large multicentre gene-phenotype association study showed that there are multiple cases (>3) of Sotos syndrome patients who have seizures.Created: 29 Nov 2018, 12:13 p.m.
Around 25% of individuals with Sotos syndrome have seizures.Created: 17 Aug 2018, 11:19 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Sotos syndrome
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to NSD1.
Source NHS GMS was added to NSD1.
Zornitza Stark: Around 25% of individuals with
Gene: nsd1 has been classified as Green List (High Evidence).
Gene: nsd1 has been classified as Green List (High Evidence).
Publications for gene: NSD1 were set to
Mode of inheritance for gene: NSD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NSD1 were changed from to Sotos syndrome 1, 117550
Expert Review Amber was added to NSD1. Panel: Genetic Epilepsy Syndromes
NSD1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
NSD1 was created by Sarah Leigh