Neonatal cholestasis

Gene: NOTCH2

Green List (high evidence)

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

4 reviews

Louise Daugherty (Genomics England Curator)

Comment on mode of inheritance: changed MOI to not imprinted from external clinical reviews
Created: 25 Jul 2018, 2:35 p.m.

Anna de Burca (Genomics England Curator)

Comment on list classification: Minor cause of Alagille syndrome - variants found in ~1.5% of cases. >10 unrelated cases reported to date.
Created: 25 Jul 2018, 12:20 p.m.

Jane Hartley (Birmingham Women and Children's Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
cholestasis; Alagille syndrome

Variants in this GENE are reported as part of current diagnostic practice

Thalia Antoniadi (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

We have not seen any pathogenic variants in our cohort of ~160 patients , but these were not necessarily Alagille referrals.
Created: 4 Jun 2018, 1:22 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Neonatal and Adult Cholestasis
  • Alagille syndrome 2
OMIM
600275
Clinvar variants
Variants in NOTCH2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

25 Jul 2018, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: NOTCH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Anna de Burca (Genomics England Curator)

Gene: notch2 has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Anna de Burca (Genomics England Curator)

Gene: notch2 has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 2

Set publications

Anna de Burca (Genomics England Curator)

Publications for gene: NOTCH2 were set to 16773578; 22209762

21 Jun 2018, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to NOTCH2. Panel: Cholestasis

18 May 2018, Gel status: 2

Added New Source, Set mode of inheritance, Set penetrance

Ellen McDonagh (Genomics England Curator)

UKGTN was added to NOTCH2. Panel: Cholestasis Model of inheritance for gene NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene NOTCH2 were set to Neonatal and Adult Cholestasis, Alagille syndrome 2

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NOTCH2 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

NOTCH2 was created by Ellen McDonagh