Familial non syndromic congenital heart disease

Gene: NOTCH2

Green List (high evidence)

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

1 review

Rachel Jones (GSTT)

Green List (high evidence)

Comment on list classification: At least 10 individuals reported
PMID: 16773578
PMID: 22209762
Created: 17 Apr 2018, 12:09 p.m.
PMID: 16773578 5 individuals with Alagille from 2 families
PMID: 22209762 8 further individuals with Alagille
Created: 17 Apr 2018, 12:08 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Alagille syndrome 2 610205

Publications

History Filter Activity

17 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Rachel Jones (GSTT)

This gene has been classified as Green List (High Evidence).

17 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Rachel Jones (GSTT)

This gene has been classified as Green List (High Evidence).

17 Apr 2018, Gel status: 1

Added New Source

Rachel Jones (GSTT)

NOTCH2 was added to Familial non syndromic congenital heart disease panel. Sources: Other

17 Apr 2018, Gel status: 1

Created

Rachel Jones (GSTT)

NOTCH2 was created by Rachel Jones