This Panel is marked as Internal
Renal and urinary tract disorders
Gene: FREM2
FREM2 (FRAS1 related extracellular matrix protein 2)
EnsemblGeneIds (GRCh38): ENSG00000150893
EnsemblGeneIds (GRCh37): ENSG00000150893
OMIM: 608945, Gene2Phenotype
FREM2 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000150893
EnsemblGeneIds (GRCh37): ENSG00000150893
OMIM: 608945, Gene2Phenotype
FREM2 is in 13 panels
4 reviews
Helen Stuart (University of Manchester)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fraser syndrome
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.
Adrian Woolf (Professor of Paediatric Scicence, Univerisity of Manchester)
Several publications of FREM2 mutations in renal agenesis/Fraser syndrome. Also good mouse models of renal agenesis or cystic dysplasia with biallelic Frem2 mutations.Created: 22 Apr 2016, 11:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to review. It is a confirmed gene for Fraser Syndrome.Created: 29 Mar 2016, 10:52 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Fraser syndrome
- Fraser syndrome 219000
- OMIM
- 608945
- Clinvar variants
- Variants in FREM2
- Penetrance
- None
- Panels with this gene
-
- Retinal disorders
- CAKUT
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
- Intellectual disability
- Clefting
- Unexplained young onset end-stage renal disease - additional genes
- Limb disorders
- Fetal anomalies
- DDG2P
- Structural eye disease
- Glaucoma (developmental)
- Anophthalmia or microphthalmia
History Filter Activity
30 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ellen McDonagh: Comment on list classification
20 Dec 2018, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Fraser syndrome for gene: FREM2
20 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: FREM2 was added gene: FREM2 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FREM2 were set to Fraser syndrome 219000