Deafness and congenital structural abnormalities
Gene: FREM2Comment on list classification: Ear abnormalities are not always a feature of Fraser syndromeCreated: 20 Sep 2016, 6:40 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. Four homozygous variants reported.Created: 15 Sep 2016, 9:08 a.m.
Phenotypes
Fraser syndrome
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.Created: 12 Sep 2016, 2:20 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#219000:Fraser syndrome [Unusual hairline with hair growth on temples extending to lateral eyebrow; Middle ear malformations; External ear malformations; Conductive hearing loss; Cryptophthalmos; Absent or malformed lacrimal ducts; Hypertelorism; Blindness; Hypoplastic, notched nares; Broad, low nasal bridge; Midline nasal cleavage; Cleft lip; Cleft palate; Teeth crowding; Laryngeal stenosis; Laryngeal atresia; Widely spaced nipples; Umbilical anomaly; Small penis; Clitoral enlargement; Hypospadias; Cryptorchidism; Vaginal atresia; Bicornuate uterus; Renal agenesis/hypoplasia; Diastasis of symphysis pubis; Syndactyly; Unusual hairline; Mental retardation; Microcephaly; Meningomyelocele; Encephalocele]
Publications
MIM 219000Created: 3 Feb 2016, 5:10 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Causes Fraser syndrome with microtia; syndromic features
Publications
26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
FREM2 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
FREM2All sources for gene: FREM2 were removed
FREM2 was added to Deafness and congenital structural abnormalitiespanel. Source: Emory Genetics Laboratory FREM2 was added to Deafness and congenital structural abnormalitiespanel. Source: Illumina TruGenome Clinical Sequencing Services FREM2 was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen FREM2 was added to Deafness and congenital structural abnormalitiespanel. Source: UKGTN FREM2 was added to Deafness and congenital structural abnormalitiespanel. Source: Expert Review Red
FREM2 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green
FREM2 was created by sleigh