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  2. Ductal plate malformation
  3. NOTCH2
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Ductal plate malformation

Gene: NOTCH2

Red List (low evidence)
NOTCH2 (notch 2)
EnsemblGeneIds (GRCh38): ENSG00000134250
EnsemblGeneIds (GRCh37): ENSG00000134250
OMIM: 600275, Gene2Phenotype
NOTCH2 is in 14 panels

2 reviews

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Red List (low evidence)

Discussed with Dr Bill Griffiths who confirmed that the bile duct paucity associated with Alagille syndrome is distinct from the ductal plate malformation phenotypes covered by this panel.
Created: 26 Nov 2018, 10:09 p.m.
Created: 26 Nov 2018, 10:09 p.m.

Panel version: 0.63

Ivone Leong (Genomics England Curator)

I don't know

Comment on list classification: Demoted from amber to red. Based on the comment by Anna de Burca (Genomics England Curator).
Created: 27 Nov 2018, 9:34 a.m.
Confirmed to be a causative gene for Alagille syndrome on Gene2Phenotype.
Created: 12 Nov 2018, 1:55 p.m.
Created: 12 Nov 2018, 1:55 p.m.

Panel version: 0.26

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen, Expert list
Phenotypes
  • Alagille syndrome 2 (610205)
OMIM
600275
Clinvar variants
Variants in NOTCH2
Penetrance
None
Panels with this gene

History Filter Activity

30 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: Confirmed to be a causative ge

27 Nov 2018, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: notch2 has been classified as Red List (Low Evidence).

27 Nov 2018, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: notch2 has been classified as Red List (Low Evidence).

12 Nov 2018, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to NOTCH2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

12 Nov 2018, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: NOTCH2 was added gene: NOTCH2 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NOTCH2 were set to Alagille syndrome 2 (610205)