Unexplained kidney failure in young people
Gene: GRIP1EnsemblGeneIds (GRCh38): ENSG00000155974
EnsemblGeneIds (GRCh37): ENSG00000155974
OMIM: 604597, Gene2Phenotype
GRIP1 is in 12 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least four variants reportedCreated: 4 Aug 2016, 1:13 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- Fraser syndrome 219000
- OMIM
- 604597
- Clinvar variants
- Variants in GRIP1
- Penetrance
- Complete
- Publications
- 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
- Structural eye disease
- Glaucoma (developmental)
- Anophthalmia or microphthalmia
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).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for GRIP1 were set to Fraser syndrome 219000
Set publications
Sarah Leigh (Genomics England Curator)Publications for GRIP1 were set to 22510445; 24700879; 14730302; 24357607
Upload gene information
Sarah Leigh (Genomics England Curator)GRIP1 was added to Unexplained kidney failure in young peoplepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for GRIP1 were set to Fraser syndrome 219000; isolated CAKUT
Added New Source
Sarah Leigh (Genomics England Curator)GRIP1 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert list,Expert Review Green
Created
Sarah Leigh (Genomics England Curator)GRIP1 was created by sleigh