Clefting
Gene: GRIP1
Comment on list classification: Changed from Amber to Red, not enough evidence to support clefting phenotypeCreated: 31 May 2017, 8:27 a.m.
Update from Clinical team. Not a clear feature of the syndrome. No evidence for this gene specifically associated to clefting and there are sufficient other clues (ocular for example) to lead to the diagnosis.
Created: 31 May 2017, 8:27 a.m.
Refer to clinical team- there is evidence for Fraser syndrome but GRIP1 mutations do not specifically result in a clear clefting phenotype (no evidence in the literature)Created: 29 May 2017, 3:46 p.m.
Comment on publications: PMID: 22510445 three cases are described where GRIP1 mutations result in classical Fraser syndrome phenotype but the clefting phenotype was not specifiedCreated: 29 May 2017, 3:29 p.m.
Comment on phenotypes: Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation ( Slavotinek et al., 2006)Created: 29 May 2017, 3:10 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Fraser syndrome, 219000
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
This gene has been classified as Red List (Low Evidence).
Publications for GRIP1 were set to 16894541; 18000968; 22510445
Publications for GRIP1 were set to 16894541;18000968;22510445
Phenotypes for GRIP1 were set to Fraser syndrome, 219000
GRIP1 was added to Cleftingpanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
GRIP1 was created by LouiseD