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  3. NOTCH1
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Fetal anomalies

Gene: NOTCH1

Green List (high evidence)
NOTCH1 (notch 1)
EnsemblGeneIds (GRCh38): ENSG00000148400
EnsemblGeneIds (GRCh37): ENSG00000148400
OMIM: 190198, Gene2Phenotype
NOTCH1 is in 11 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 2:03 p.m.
Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated green on the 'Clefting', 'Skeletal dysplasia' and 'Limb disorders' panels. Sufficient evidence for causation: >3 unrelated cases reported for variants in NOTCH1 causing Adams-Oliver type 5 syndrome, as reviewed on the 'Limb disorders' panel.
Created: 22 Jan 2019, 9:07 a.m.
Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s), and Helen Brittain and Anna de Burca (Genomics England Clinical team) had noted that 'ADAMS OLIVER SYNDROME' is fetally-relevant. Sufficient cases to support causation, as reviewed on the Limb disorder panel.
Created: 18 Dec 2018, 10:32 p.m.
DDG2P rating in original PAGE list: Probable for LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION and Probable for ADAMS OLIVER SYNDROME.
Created: 11 Dec 2018, 9:05 a.m.

Phenotypes
Adams-Oliver syndrome 5, 616028

Publications

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.161

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ADAMS OLIVER SYNDROME
  • LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION
OMIM
190198
Clinvar variants
Variants in NOTCH1
Penetrance
None
Panels with this gene

History Filter Activity

18 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: notch1 has been classified as Green List (High Evidence).

8 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes ADAMS OLIVER SYNDROME for gene: NOTCH1

8 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: NOTCH1 was added gene: NOTCH1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NOTCH1 were set to LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION