Cerebral Palsy
Gene: NSD1
NSD1 (nuclear receptor binding SET domain protein 1)
EnsemblGeneIds (GRCh38): ENSG00000165671
EnsemblGeneIds (GRCh37): ENSG00000165671
OMIM: 606681, Gene2Phenotype
NSD1 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000165671
EnsemblGeneIds (GRCh37): ENSG00000165671
OMIM: 606681, Gene2Phenotype
NSD1 is in 17 panels
1 review
Clare van Eyk (University of Adelaide)
2 individuals with mono-allelic LOF (1 stopgain, 1 frameshift deletion) reported in large-scale exome sequencing study (PMID: 38693247). No additional clinical information provided.
Sources: LiteratureCreated: 27 May 2024, 12:18 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Sotos syndrome, MIM#117550
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Sotos syndrome, MIM#117550
- OMIM
- 606681
- Clinvar variants
- Variants in NSD1
- Penetrance
- None
- Publications
-
- PMID: 38693247
- 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
30 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nsd1 has been classified as Red List (Low Evidence).
30 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nsd1 has been classified as Red List (Low Evidence).
27 May 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: NSD1 was added gene: NSD1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NSD1 were set to PMID: 38693247 Phenotypes for gene: NSD1 were set to Sotos syndrome, MIM#117550 Review for gene: NSD1 was set to RED