CAKUT

Gene: GRIP1

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fraser syndrome

Comment on list classification: PMID: 22510445 two unrelated male cases reported in OMIM (Vogel et al, 2012). The first male fetus was homozygous for Chr12(GRCh37):g.66786456C>G (NM_021150.3:c.2113 +1G>C substitution), unaffected parents were heterozygous. The second case is of a stillborn male homozygous for the same variant, and unaffected mother was heterozygous. A third case was not confirmed in the proband, and found the parents were heterozygous for a 4bp deletion. PMID: 24700879 - A more recent publication includes a report of a compound heterozygous (missense variants c.1846G>A and c.2750G>T) female from Macedonia with isolated CAKUT. Both studies sequenced candidate genes. There is literature suggesting GRIP1 interacts with FREM1. PMID: 14730302 - In vitro work suggesting GRIP1 is required for normal cell-matrix interactions during early embryonic development and that inactivation of Grip1 causes Fraser syndrome-like defects in mice.

Created: 25 Apr 2016, 2:47 p.m.

Comment on list classification: Promoted from red due to expert review. Associated with Fraser sydrome (includes Renal agenesis/hypoplasia) - OMIM.

Created: 30 Mar 2016, 9:11 a.m.