Limb disorders
Gene: GRIP1EnsemblGeneIds (GRCh38): ENSG00000155974
EnsemblGeneIds (GRCh37): ENSG00000155974
OMIM: 604597, Gene2Phenotype
GRIP1 is in 12 panels
1 review
Ellen McDonagh (Genomics England Curator)
Fraser syndrome 3 includes Cutaneous syndactyly, partial bilateral and short fingers, short toes. This gene-disease association is not found in Gene2Phenotype. PMID: 24357607 - an additional two family reports, with homozygous variants found in this gene in the affected probands with cutaneous syndactyly, resulting in four unrelated family reports.Created: 7 Nov 2018, 1:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fraser syndrome 3 617667
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Fraser syndrome 3 617667
- Polydactyly
- OMIM
- 604597
- Clinvar variants
- Variants in GRIP1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Unexplained young onset end-stage renal disease - additional genes
- Limb disorders
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
- Retinal disorders
- Fetal anomalies
- Structural eye disease
- Clefting
- Glaucoma (developmental)
- Anophthalmia or microphthalmia
- Intellectual disability
- CAKUT
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ellen McDonagh: Fraser syndrome 3 includes Cut
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: grip1 has been classified as Green List (High Evidence).
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to GRIP1. Mode of inheritance for gene GRIP1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fraser syndrome 3 617667 for gene: GRIP1 Publications for gene GRIP1 were changed from to 22510445; 24357607 Rating Changed from Red List (low evidence) to Green List (high evidence)
Added New Source
Ellen McDonagh (Genomics England Curator)GRIP1 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)GRIP1 was created by Ellen McDonagh