CAKUT
Gene: NOTCH2Comment 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 610205Created: 19 May 2020, 4:16 p.m. | Last Modified: 19 May 2020, 4:16 p.m.
Panel Version: 1.113
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: LiteratureCreated: 16 Jan 2020, 4:22 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alagille syndrome 2; OMIM #610205
Publications
Gene: notch2 has been classified as Green List (High Evidence).
Publications for gene: NOTCH2 were set to 22105858; 16773578
Publications for gene: NOTCH2 were set to 22105858
Publications for gene: NOTCH2 were set to PMID: 22105858
Phenotypes for gene: NOTCH2 were changed from Alagille syndrome 2; OMIM #610205 to Alagille syndrome 2 610205
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