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Severe Paediatric Disorders

Gene: NOTCH1

Green List (high evidence)

NOTCH1 (notch 1)
EnsemblGeneIds (GRCh38): ENSG00000148400
EnsemblGeneIds (GRCh37): ENSG00000148400
OMIM: 190198, Gene2Phenotype
NOTCH1 is in 14 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: NOTCH1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Adams-Oliver syndrome 5, 616028 (3) | Aortic valve disease 1, 109730 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:23 p.m. | Last Modified: 20 Feb 2020, 5:23 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Adams-Oliver syndrome 5, 616028
  • Aortic valve disease 1, 109730
OMIM
190198
Clinvar variants
Variants in NOTCH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene NOTCH1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene NOTCH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Adams-Oliver syndrome 5, 616028; Aortic valve disease 1, 109730 for gene: NOTCH1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Adams-Oliver syndrome 5, 616028; Aortic valve disease 1, 109730 for gene: NOTCH1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Adams-Oliver syndrome 5, 616028; Aortic valve disease 1, 109730 for gene: NOTCH1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Aortic valve disease 1, 109730; Adams-Oliver syndrome 5, 616028 for gene: NOTCH1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to NOTCH1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to NOTCH1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: NOTCH1 was added gene: NOTCH1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: NOTCH1 was set to