Hydrocephalus
Gene: NRAS
NRAS (NRAS proto-oncogene, GTPase)
EnsemblGeneIds (GRCh38): ENSG00000213281
EnsemblGeneIds (GRCh37): ENSG00000213281
OMIM: 164790, Gene2Phenotype
NRAS is in 25 panels
EnsemblGeneIds (GRCh38): ENSG00000213281
EnsemblGeneIds (GRCh37): ENSG00000213281
OMIM: 164790, Gene2Phenotype
NRAS is in 25 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 only enough evidence to rate this gene RedCreated: 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)
Somatic mutations are associated with congenital melanosis, presenting as congenital melanocytic naevus syndrome. 18% of a large cohort had neurological involvement, however hydrocephalus was considered a rare association. Therefore not considered appropriate for this panel (rare, presents in a different clear manner, somatic mutations)Created: 9 May 2017, 1:22 p.m.
Phenotypes
Neurocutaneous melanosis, somatic
Publications
Details
- Sources
-
- NHS GMS
- Expert Review Red
- Literature
- Phenotypes
-
- Neurocutaneous melanosis, somatic
- OMIM
- 164790
- Clinvar variants
- Variants in NRAS
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Hereditary neuropathy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Multiple monogenic benign skin tumours
- DDG2P
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Fetal hydrops
- Hydrocephalus
- Segmental overgrowth disorders - Deep sequencing
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Paediatric or syndromic cardiomyopathy
- Early onset or syndromic epilepsy
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Neurological segmental overgrowth
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
- Intellectual disability
History Filter Activity
29 Jul 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to NRAS.
31 May 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
9 May 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NRAS was added to Hydrocephaluspanel. Source: Expert Review Red
9 May 2017, Gel status: 0
Created
Helen Brittain (Genomics England Curator)NRAS was created by helen.brittain
9 May 2017, Gel status: 0
Added New Source
Helen Brittain (Genomics England Curator)NRAS was added to Hydrocephaluspanel. Sources: Literature