Unexplained young onset end-stage renal disease - additional genes

Gene: FREM1

Green List (high evidence)

This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.

Created: 25 Sep 2024, 9:36 p.m. | Last Modified: 25 Sep 2024, 9:36 p.m.

Panel Version: 0.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

I don't know

Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of Green

Created: 9 Apr 2019, 11:17 a.m.

Green List (high evidence)

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 reported

Created: 10 Apr 2017, 1:32 p.m.

Comment on phenotypes: Also associated with Manitoba oculotrichoanal syndrome 248450 and Trigonocephaly 2 614485

Created: 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.

Green List (high evidence)

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.