Unexplained kidney failure in young people
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
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 4 Aug 2016, 12:35 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- Fraser syndrome 219000
- OMIM
- 607830
- Clinvar variants
- Variants in FRAS1
- 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
17 Aug 2016, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
4 Aug 2016, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
4 Aug 2016, Gel status: 4
Upload gene information
Sarah Leigh (Genomics England Curator)FRAS1 was added to Unexplained kidney failure in young peoplepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
20 Jun 2016, Gel status: 4
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for FRAS1 were set to Fraser syndrome 219000
20 Jun 2016, Gel status: 4
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for FRAS1 were set to Fraser syndrome 19000
18 May 2016, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)FRAS1 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert list,Expert Review Green
18 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)FRAS1 was created by sleigh