Unexplained kidney failure in young people
Gene: FREM1EnsemblGeneIds (GRCh38): ENSG00000164946
EnsemblGeneIds (GRCh37): ENSG00000164946
OMIM: 608944, Gene2Phenotype
FREM1 is in 11 panels
1 review
Sarah Leigh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert list
- 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
-
- Anophthalmia or microphthalmia
- CAKUT
- Retinal disorders
- Unexplained young onset end-stage renal disease - additional genes
- Unexplained kidney failure in young people
- DDG2P
- Structural eye disease
- Intellectual disability
- Fetal anomalies
- Glaucoma (developmental)
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for FREM1 was changed to BIALLELIC, autosomal or pseudoautosomal
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for FREM1 were set to Bifid nose with or without anorectal and renal anomalies, 608980
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for FREM1 was changed to Unknown
Upload gene information
Sarah Leigh (Genomics England Curator)FREM1 was added to Unexplained kidney failure in young peoplepanel. Sources: UKGTN
Added New Source
Sarah Leigh (Genomics England Curator)FREM1 was added to Unexplained kidney failure in young peoplepanel. Sources: Radboud University Medical Center, Nijmegen,,Expert list,Expert Review Green
Created
Sarah Leigh (Genomics England Curator)FREM1 was created by sleigh