Clefting

Gene: GRIP1

Red List (low evidence)

Comment on list classification: Changed from Amber to Red, not enough evidence to support clefting phenotype

Created: 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 specified

Created: 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