Hydrocephalus
Gene: NSD1
NSD1 (nuclear receptor binding SET domain protein 1)
EnsemblGeneIds (GRCh38): ENSG00000165671
EnsemblGeneIds (GRCh37): ENSG00000165671
OMIM: 606681, Gene2Phenotype
NSD1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000165671
EnsemblGeneIds (GRCh37): ENSG00000165671
OMIM: 606681, Gene2Phenotype
NSD1 is in 11 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Helen Brittain (Genomics England Curator)
Macrocephaly is a key feature. As D/W Richard Scott; increased extra-axial spaces are often mis-labelled as hydrocephalus. Therefore include.Created: 25 May 2017, 2:02 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Sotos syndrome 1 117550
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Sotos syndrome 1, OMIM:117550
- OMIM
- 606681
- Clinvar variants
- Variants in NSD1
- Penetrance
- Complete
- 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
25 Mar 2021, Gel status: 3
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: NSD1 were changed from Sotos syndrome 1 117550 to Sotos syndrome 1, OMIM:117550
29 Jul 2019, Gel status: 3
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to NSD1.
31 May 2017, Gel status: 4
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
25 May 2017, Gel status: 4
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
25 May 2017, Gel status: 4
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
25 May 2017, Gel status: 0
Added New Source
Helen Brittain (Genomics England Curator)NSD1 was added to Hydrocephaluspanel. Sources: Literature
25 May 2017, Gel status: 0
Created
Helen Brittain (Genomics England Curator)NSD1 was created by helen.brittain