Structural eye disease
Gene: GRIP1EnsemblGeneIds (GRCh38): ENSG00000155974
EnsemblGeneIds (GRCh37): ENSG00000155974
OMIM: 604597, Gene2Phenotype
GRIP1 is in 12 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
DB Vogel et al. 2012 published three unrelated families with Fraser SyndromeCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FRASER SYNDROME 3; 617667
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Vogel et al. 2012 published three unrelated families with Fraser SyndromeCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FRASER SYNDROME 3 617667
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- FRASER SYNDROME 3 617667
- Eye Disorders
- OMIM
- 604597
- Clinvar variants
- Variants in GRIP1
- Penetrance
- None
- Publications
- 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
- Structural eye disease
- Intellectual disability
- Fetal anomalies
- Glaucoma (developmental)
- Clefting
History Filter Activity
Added New Source, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to GRIP1. Added phenotypes FRASER SYNDROME 3 617667 for gene: GRIP1 Publications for gene GRIP1 were changed from to 22510445
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: GRIP1 was added gene: GRIP1 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: GRIP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRIP1 were set to Eye Disorders