Anophthalmia or microphthalmia
Gene: GRIP1
GRIP1 (glutamate receptor interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000155974
EnsemblGeneIds (GRCh37): ENSG00000155974
OMIM: 604597, Gene2Phenotype
GRIP1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000155974
EnsemblGeneIds (GRCh37): ENSG00000155974
OMIM: 604597, Gene2Phenotype
GRIP1 is in 12 panels
2 reviews
David FitzPatrick (University of Edinburgh)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Known expert and lit evidenceCreated: 10 May 2016, 12:09 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- OMIM
- 604597
- Clinvar variants
- Variants in GRIP1
- 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
- Structural eye disease
- Intellectual disability
- Fetal anomalies
- Glaucoma (developmental)
- Clefting
History Filter Activity
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
10 May 2016, Gel status: 1
Set Mode of Inheritance
Damian Smedley (Genomics England Curator)Mode of inheritance for GRIP1 was changed to BIALLELIC, autosomal or pseudoautosomal
28 Apr 2015, Gel status: 1
Added New Source
GEL ()GRIP1 was added to Anophthalmia/microphthalmiapanel. Sources: Emory Genetics Laboratory