Congenital hyperinsulinism
Gene: NSD1EnsemblGeneIds (GRCh38): ENSG00000165671
EnsemblGeneIds (GRCh37): ENSG00000165671
OMIM: 606681, Gene2Phenotype
NSD1 is in 11 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 4:38 p.m. | Last Modified: 31 Jan 2023, 4:38 p.m.
Panel Version: 2.32
Eleanor Williams (Genomics England Curator)
Review on behalf of Jayne Houghton and Kevin Colclough, Exeter Genomics Laboratory, SWGLH. Seven cases of hyperinsulinaemic hypoglycaemia with de novo NSD1 mutations have reported to date (Grand et al 2019 Am J Med Genet PMID:30719864). In addition, the Exeter laboratory has identified a further 3 cases referred with neonatal hypoglycaemia as part of a syndrome in which NSD1 de novo variants have been identified.Created: 14 Sep 2022, 4:39 p.m. | Last Modified: 14 Sep 2022, 4:39 p.m.
Panel Version: 2.12
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hyperinsulinaemic hypoglycaemia, distinctive facial features, overgrowth in childhood and developmental delay.
Publications
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype (Definitive). There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 3 Dec 2021, 4:14 p.m. | Last Modified: 3 Dec 2021, 4:14 p.m.
Panel Version: 2.8
Zornitza Stark (Australian Genomics)
Hyperinsulinism is a documented feature of this syndrome: at least 9 individuals with NSD1 variants and hyperinsulinism reported; persistent in 3/9/
Sources: Expert listCreated: 14 Feb 2020, 8:24 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Sotos syndrome (OMIM#117550)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Sotos syndrome, OMIM:117550
- Sotos syndrome 1, MONDO:0007299
- OMIM
- 606681
- Clinvar variants
- Variants in NSD1
- Penetrance
- None
- Publications
- 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
Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_21_rating was removed from gene: NSD1. Tag Q3_22_NHS_review was removed from gene: NSD1.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to NSD1. Source NHS GMS was added to NSD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_22_NHS_review tag was added to gene: NSD1.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: NSD1 were changed from Sotos syndrome (OMIM#117550) to Sotos syndrome, OMIM:117550; Sotos syndrome 1, MONDO:0007299
Added Tag
Ivone Leong (Genomics England Curator)Tag Q4_21_rating tag was added to gene: NSD1.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: nsd1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: NSD1 was added gene: NSD1 was added to Congenital hyperinsulinism. Sources: Expert list Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NSD1 were set to 30719864 Phenotypes for gene: NSD1 were set to Sotos syndrome (OMIM#117550) Review for gene: NSD1 was set to GREEN gene: NSD1 was marked as current diagnostic