Clefting

Gene: FREM2

Red List (low evidence)

Comment on list classification: Changed status from amber to red, not enough evidence to support the clefting phenotype.

Created: 31 May 2017, 8:32 a.m.

Update from clinical team. No evidence for this gene specifically resulting in the clefting phenotype and there are sufficient other clues (ocular for example) to lead to the diagnosis.

Created: 31 May 2017, 8:31 a.m.

Refer to clinical team- there is evidence for Fraser syndrome but FREM2 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: In review paper PMID: 18671281 the clefting phenotype was not reported in a any of the 6 unrelated Fraser Syndrome cases with the FREM2 mutation

Created: 29 May 2017, 3:44 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, 3:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fraser syndrome, 219000