Bilateral microtia
Gene: GRIP1
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
This gene has been classified as Green List (High Evidence).
Phenotypes for GRIP1 were set to Bilateral Microtia;219000
Mode of inheritance for GRIP1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
GRIP1 was added to Bilateral Microtiapanel. Sources: Expert list