CAKUT
Gene: FREM1

FREM1 (FRAS1 related extracellular matrix 1)
EnsemblGeneIds (GRCh38): ENSG00000164946
EnsemblGeneIds (GRCh37): ENSG00000164946
OMIM: 608944, Gene2Phenotype
FREM1 is in 11 panels

3 reviews

Helen Stuart (University of Manchester)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Adrian Woolf (Professor of Paediatric Scicence, Univerisity of Manchester)

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

Created: 22 Apr 2016, 11:31 a.m.

Panel version: 0.84

Ellen McDonagh (Genomics England Curator)

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.

Created: 29 Mar 2016, 10:49 a.m.

Panel version: 0.38

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list
Radboud University Medical Center, Nijmegen

Phenotypes

Bifid nose with or without anorectal and renal anomalies, 608980

OMIM

608944

Clinvar variants

Variants in FREM1

Penetrance

Complete

Publications

PMID: 24700879

Panels with this gene