CAKUT

Gene: NOTCH2

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

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

• PMID: 22105858