CAKUT
Gene: BMP7Comment on list classification: BMP7 was added to CAKUT panel and rated Red by Zornitza Stark. Updated rating from Grey to Red to match Zornitza's review: There are additional functional papers reporting a role for BMP7 in renal tissues, but only one reported family plus a mouse model.Created: 31 Mar 2020, 8:19 a.m. | Last Modified: 31 Mar 2020, 8:19 a.m.
Panel Version: 1.49
PMID:7590254 (Dudley et al., 1995) report that mice lacking BMP7 display severe defects confined to the developing kidney and eye (renal dysplasia and anophthalmia at birth).Created: 31 Mar 2020, 8:17 a.m. | Last Modified: 31 Mar 2020, 8:17 a.m.
Panel Version: 1.48
PMID:24429398 (Hwang et al., 2014) studied a cohort of 650 families with CAKUT, and found a BMP7 variant (p.E221K) in one family. Phenotype was UVJO (Ureterovesical Junction Obstruction) on the right and HD on the left.Created: 31 Mar 2020, 8:17 a.m. | Last Modified: 31 Mar 2020, 8:17 a.m.
Panel Version: 1.48
Gene: bmp7 has been classified as Red List (Low Evidence).
gene: BMP7 was added gene: BMP7 was added to CAKUT. Sources: Expert list Mode of inheritance for gene: BMP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BMP7 were set to 24429398; 7590254 Phenotypes for gene: BMP7 were set to CAKUT Review for gene: BMP7 was set to RED