Deafness and congenital structural abnormalities
Gene: GRIP1Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Four homozygous variants reportedCreated: 15 Sep 2016, 10:05 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, 2:22 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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Causes Fraser syndrome; 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).
Phenotypes for GRIP1 were set to Bilateral Microtia; 219000; Fraser syndrome; syndromic features; Fraser syndrome 219000;Causes Fraser syndrome; syndromic features
Publications for GRIP1 were set to 22510445; 10197531; 11983858; 11986669; 12052960; 14730302; 15895086; 16880404
GRIP1 was added to Deafness and congenital structural abnormalitiespanel. Source: Emory Genetics Laboratory GRIP1 was added to Deafness and congenital structural abnormalitiespanel. Source: Illumina TruGenome Clinical Sequencing Services GRIP1 was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen
GRIP1 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green
GRIP1 was created by sleigh