1. Panels
  2. Fetal anomalies
  3. NOTCH1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: NOTCH1

Green List (high evidence)
NOTCH1 (notch 1)
EnsemblGeneIds (GRCh38): ENSG00000148400
EnsemblGeneIds (GRCh37): ENSG00000148400
OMIM: 190198, Gene2Phenotype
NOTCH1 is in 17 panels

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

Monoallelic NOTCH1 variants identified in >10 families with Adams-Oliver syndrome, defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). Congenital heart defects have been estimated to be present in 20% of individuals with AOS; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot.

ClinGen – Limited evidence for familial thoracic aortic aneurysm and aortic dissection.
Created: 13 Dec 2021, 12:19 a.m. | Last Modified: 13 Dec 2021, 12:19 a.m.
Panel Version: 0.1240

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Adams-Oliver syndrome 5 (MIM#616028)

Publications

Created: 13 Dec 2021, 12:19 a.m.
Last Modified: 13 Dec 2021, 12:19 a.m.
Panel version: 0.1240

History Filter Activity

13 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NOTCH1 were changed from ADAMS OLIVER SYNDROME; LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION to Adams-Oliver syndrome 5 (MIM#616028)

13 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NOTCH1 were set to

13 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NOTCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NOTCH1 was added gene: NOTCH1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NOTCH1 were set to ADAMS OLIVER SYNDROME; LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION