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  3. NOTCH2
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Fetal anomalies

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

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

Monoallelic NOTCH2 variants identified in Alagille syndrome probands (liver, renal, and cardiac disease) and Hajdu-Cheney syndrome (characterized by the association of facial anomalies, radiological findings, periodontal disease, cleft palate, congenital heart defects, polycystic kidneys, orthopedic problems and anomalies of the genitalia, intestines and eyes).
Created: 13 Dec 2021, 12:40 a.m. | Last Modified: 13 Dec 2021, 12:40 a.m.
Panel Version: 0.1240

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)

Publications

Created: 13 Dec 2021, 12:40 a.m.
Last Modified: 13 Dec 2021, 12:40 a.m.
Panel version: 0.1240

History Filter Activity

13 Dec 2021, 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).

13 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NOTCH2 were changed from HAJDU-CHENEY SYNDROME to Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)

13 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NOTCH2 were set to

13 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NOTCH2 was added gene: NOTCH2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NOTCH2 were set to HAJDU-CHENEY SYNDROME