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This Panel is marked as Internal

Genomic imprinting
Gene: NOTCH1

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comments from Prof Ian Morison (Department of Pathology, University of Otago) the imprinted gene DLK1 affects NOTCH1 expression, but NOTCH1 is not imprinted itself.
Created: 2 Feb 2021, 5:40 p.m. | Last Modified: 2 Feb 2021, 5:40 p.m.

Panel Version: 0.84

Created: 2 Feb 2021, 5:40 p.m.
Last Modified: 2 Feb 2021, 5:40 p.m.
Panel version: 0.84

Ellen McDonagh (Genomics England Curator)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

Phenotypes
From the Familial non syndromic congenital heart disease gene panel

Created: 4 May 2017, 3:16 p.m.

Panel version: 0.1

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

PanelApp

Phenotypes

From the Familial non syndromic congenital heart disease gene panel

OMIM

190198

Clinvar variants

Variants in NOTCH1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

2 Feb 2021, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: NOTCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

12 Jan 2021, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: NOTCH1 were set to

4 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NOTCH1 was created by ellenmcdonagh