Limb disordersGene: GRIP1
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
Fraser syndrome 3 617667
Ellen McDonagh: Fraser syndrome 3 includes Cut
Gene: grip1 has been classified as Green List (High Evidence).
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)
GRIP1 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
GRIP1 was created by Ellen McDonagh