Unexplained young onset end-stage renal disease
Gene: FREM1
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment when marking as ready: Associated with phenotypes in OMIM and only with Manitoba oculotrichoanal syndrome 248450 in G2P (not relevant to this panel). At least three variants reportedCreated: 10 Apr 2017, 1:32 p.m.
Comment on phenotypes: Also associated with Manitoba oculotrichoanal syndrome 248450 and Trigonocephaly 2 614485Created: 4 Aug 2016, 12:44 p.m.
Comment on mode of inheritance: Manitoba oculotrichoanal syndrome 248450 (Biallelic)
Trigonocephaly 2 614485 (monogenic)Created: 4 Aug 2016, 12:43 p.m.
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.
gene: FREM1 was added gene: FREM1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FREM1 were set to PMID: 24700879 Phenotypes for gene: FREM1 were set to Bifid nose with or without anorectal and renal anomalies, 608980