Clefting
Gene: FREM2
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 mutationCreated: 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
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 FREM2 were set to 16894541; 15838507;18203166;18671281
Publications for FREM2 were set to 16894541; 15838507;18203166;18671281
Publications for FREM2 were set to 16894541
Phenotypes for FREM2 were set to Fraser syndrome, 219000
FREM2 was added to Cleftingpanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
FREM2 was created by LouiseD