Unexplained kidney failure in young people
Gene: FREM2EnsemblGeneIds (GRCh38): ENSG00000150893
EnsemblGeneIds (GRCh37): ENSG00000150893
OMIM: 608945, Gene2Phenotype
FREM2 is in 13 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reportedCreated: 4 Aug 2016, 12:53 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Fraser syndrome 219000
- OMIM
- 608945
- Clinvar variants
- Variants in FREM2
- Penetrance
- Complete
- Panels with this gene
-
- Unexplained young onset end-stage renal disease - additional genes
- Intellectual disability
- DDG2P
- Glaucoma (developmental)
- Retinal disorders
- Limb disorders
- Structural eye disease
- Anophthalmia or microphthalmia
- Fetal anomalies
- Clefting
- CAKUT
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
History Filter Activity
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).
Upload gene information
Sarah Leigh (Genomics England Curator)FREM2 was added to Unexplained kidney failure in young peoplepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for FREM2 were set to Fraser syndrome 219000
Added New Source
Sarah Leigh (Genomics England Curator)FREM2 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert list,Expert Review Green
Created
Sarah Leigh (Genomics England Curator)FREM2 was created by sleigh