CAKUT
Gene: FREM1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Now, several publications showing a range of renal malformations (usually unilateral or bilateral renal agenesis) sometimes in association with gut and nose malformations. Several well established mouse models of renal malformations and Frem1 biallelic mutations.Created: 22 Apr 2016, 11:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: Promoted to green due to two reviewers agreeing.Created: 22 Apr 2016, 12:33 p.m.
Comment on list classification: Promoted from red due to review. It is a confirmed DD gene for MANITOBA OCULOTRICHOANAL SYNDROME.Created: 29 Mar 2016, 10:49 a.m.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for FREM1 were set to PMID: 24700879
Publications for FREM1 were set to PMID: 24700879
Mode of inheritance for FREM1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
FREM1 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Radboud University Medical Center, Nijmegen,,Expert list
FREM1 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Radboud University Medical Center, Nijmegen,,Expert list
FREM1 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Radboud University Medical Center, Nijmegen,,Expert list