Hyperinsulinism
Gene: NSD1EnsemblGeneIds (GRCh38): ENSG00000165671
EnsemblGeneIds (GRCh37): ENSG00000165671
OMIM: 606681, Gene2Phenotype
NSD1 is in 17 panels
2 reviews
Chern Lim (Victorian Clinical Genetics Services)
Well established disease gene for Sotos syndrome.Created: 23 Dec 2020, 12:47 a.m. | Last Modified: 23 Dec 2020, 12:47 a.m.
Panel Version: 0.5775
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Sotos syndrome 1 (MIM#117550), AD
Publications
Variants in this GENE are reported as part of current diagnostic practice
Chloe Stutterd (Victorian Clinical Genetics Services)
Cohort of nine patients with hyperinsulinism, persistent in 3 of 9.
Sources: LiteratureCreated: 14 Feb 2020, 3:45 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Sotos syndrome (OMIM#117550)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Sotos syndrome (OMIM#117550)
- OMIM
- 606681
- Clinvar variants
- Variants in NSD1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Overgrowth
- Hyperinsulinism
- Lymphoedema_syndromic
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Hydrocephalus_Ventriculomegaly
- Macrocephaly_Megalencephaly
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mendeliome
- Congenital diaphragmatic hernia
- Callosome
- Cerebral Palsy
- Autism
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nsd1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nsd1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chloe Stutterd (Victorian Clinical Genetics Services)gene: NSD1 was added gene: NSD1 was added to Hyperinsulinism. Sources: Literature 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