CAKUT
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
3 reviews
Helen Stuart (University of Manchester)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fraser syndrome
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
- Expert list
- Phenotypes
-
- Fraser syndrome
- OMIM
- 608945
- Clinvar variants
- Variants in FREM2
- Penetrance
- Complete
- Panels with this gene
-
- Anophthalmia or microphthalmia
- CAKUT
- Retinal disorders
- Unexplained young onset end-stage renal disease - additional genes
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Structural eye disease
- Intellectual disability
- Fetal anomalies
- Glaucoma (developmental)
- Clefting
History Filter Activity
29 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
29 Mar 2016, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for FREM2 were set to Fraser syndrome
29 Mar 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for FREM2 was changed to BIALLELIC, autosomal or pseudoautosomal
29 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
29 Mar 2016, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
14 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)FREM2 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Expert list