CAKUT
Gene: GRIP1
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.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for GRIP1 were set to Fraser syndrome; isolated CAKUT
Publications for GRIP1 were set to PMID: 22510445; 24700879; 14730302.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for GRIP1 were set to Fraser syndrome
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for GRIP1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
GRIP1 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Expert list