CAKUT
Gene: FRAS1
FRAS1 (Fraser extracellular matrix complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000138759
EnsemblGeneIds (GRCh37): ENSG00000138759
OMIM: 607830, Gene2Phenotype
FRAS1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000138759
EnsemblGeneIds (GRCh37): ENSG00000138759
OMIM: 607830, Gene2Phenotype
FRAS1 is in 13 panels
4 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 show billalelic mutations in renal agenesis/Fraser syndrome. Also convincing mouse models available with renal agenesis and biallelic Fras1 mutations.Created: 22 Apr 2016, 11:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green as two reviewers in agreement. Confirmed DD gene for Fraser syndrome.Created: 29 Mar 2016, 10:43 a.m.
Sian Ellard (University of Exeter Medical School)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Fraser syndrome
- OMIM
- 607830
- Clinvar variants
- Variants in FRAS1
- 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 FRAS1 were set to Fraser syndrome
29 Mar 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for FRAS1 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).
14 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)FRAS1 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Expert list