Stroke

Gene: NOTCH2

Green List (high evidence)

NOTCH2 (notch 2)
EnsemblGeneIds (GRCh38): ENSG00000134250
EnsemblGeneIds (GRCh37): ENSG00000134250
OMIM: 600275, Gene2Phenotype
NOTCH2 is in 16 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple reports of vascular abnormalities and stroke in Alagille syndrome, can be difficult to diagnose clinically.
Sources: Expert Review
Created: 1 Aug 2025, 6:19 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Alagille syndrome 2 610205

Publications

History Filter Activity

1 Aug 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Aug 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Aug 2025, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NOTCH2 was added gene: NOTCH2 was added to Stroke. Sources: Expert Review Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOTCH2 were set to 30761079; 38400955; 25465847 Phenotypes for gene: NOTCH2 were set to Alagille syndrome 2 610205 Review for gene: NOTCH2 was set to GREEN