CAKUT

Gene: NOTCH2

Green List (high evidence)

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 10 variants reported been reported in unrealated with features of Alagille syndrome (PMID 22209762).
Created: 19 May 2020, 4:51 p.m. | Last Modified: 19 May 2020, 4:51 p.m.
Panel Version: 1.117
Comment on phenotypes: Alagille syndrome 2 610205
Created: 19 May 2020, 4:16 p.m. | Last Modified: 19 May 2020, 4:16 p.m.
Panel Version: 1.113

chirag patel (Genetic Health Queensland)

Green List (high evidence)

Renal abnormalities, both structural (small hyperechoic kidney, ureteropelvic obstruction, renal cysts) and functional (most commonly renal tubular acidosis), are found in 39% of affected individuals (73/187) [Kamath et al 2012b, Romero 2018].

Romero R. The renal sequelae of Alagille Syndrome as a Product of Altered Notch Signaling During Kidney Development. In: Kamath, BM and Loomes, KM, eds. Alagille Syndrome: Pathogenesis and Clinical Management. Cham, Switzerland: Springer Nature Switzerland AG; 2018:103-20.
Sources: Literature
Created: 16 Jan 2020, 4:22 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Alagille syndrome 2; OMIM #610205

Publications

History Filter Activity

19 May 2020, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

19 May 2020, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: NOTCH2 were set to 22105858; 16773578

19 May 2020, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: NOTCH2 were set to 22105858

19 May 2020, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: NOTCH2 were set to PMID: 22105858

19 May 2020, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: NOTCH2 were changed from Alagille syndrome 2; OMIM #610205 to Alagille syndrome 2 610205

16 Jan 2020, Gel status: 0

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

chirag patel (Genetic Health Queensland)

gene: NOTCH2 was added gene: NOTCH2 was added to CAKUT. Sources: Literature Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOTCH2 were set to PMID: 22105858 Phenotypes for gene: NOTCH2 were set to Alagille syndrome 2; OMIM #610205 Review for gene: NOTCH2 was set to GREEN