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  2. Neonatal cholestasis
  3. NOTCH2
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Neonatal cholestasis

Gene: NOTCH2

Green List (high evidence)
NOTCH2 (notch 2)
EnsemblGeneIds (GRCh38): ENSG00000134250
EnsemblGeneIds (GRCh37): ENSG00000134250
OMIM: 600275, Gene2Phenotype
NOTCH2 is in 14 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.
Created: 25 Jul 2018, 2:35 p.m.

Panel version: 0.168

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

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.
Created: 25 Jul 2018, 12:20 p.m.

Panel version: 0.105

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

Created: 16 Jun 2018, 5:51 p.m.

Panel version: 0.18

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

Created: 4 Jun 2018, 1:22 p.m.

Panel version: 0.18

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 (Oxford University Hospitals NHS Foundation Trust)

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 (Oxford University Hospitals NHS Foundation Trust)

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

25 Jul 2018, Gel status: 2

Set publications

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

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