Hydrocephalus

Gene: NOTCH2

Red List (low evidence)

NOTCH2 (notch 2)
EnsemblGeneIds (GRCh38): ENSG00000134250
EnsemblGeneIds (GRCh37): ENSG00000134250
OMIM: 600275, Gene2Phenotype
NOTCH2 is in 12 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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 Red
Created: 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)

Red List (low evidence)

Clear evidence for causation (NOTCH2 and Hajdu-Cheney syndrome). However, hydrocephalus found in one case. This presents as a skeletal dysplasia with coarse features (green on unexplained skeletal dysplasia panel)
Created: 9 May 2017, 1:22 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hajdu-Cheney syndrome

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Red
  • Literature
Phenotypes
  • Hajdu-Cheney syndrome
OMIM
600275
Clinvar variants
Variants in NOTCH2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to NOTCH2.

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)

NOTCH2 was added to Hydrocephaluspanel. Source: Expert Review Red

9 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

NOTCH2 was added to Hydrocephaluspanel. Sources: Literature

9 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

NOTCH2 was created by helen.brittain