Bilateral microtia
Gene: SALL1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#107480:Townes-Brocks syndrome [Microcephaly; Overfolding of superior helix; Large ears; Preauricular tags; Preauricular pits; Microtia; Satyr ear; Sensorineural hearing loss; Chorioretinal coloboma (rare); Duane anomaly (rare); Tetralogy of Fallot; Ventricular septal defect; Duodenal atresia; Imperforate anus; Anal stenosis; Anterior placement of anus; Rectovaginal/rectoperineal fistula; Gastroesophageal reflux; Umbilical hernia; Hypospadias; Bifid scrotum; Prominent midline perineal raphe; Cryptorchidism; Rectovaginal fistula; Vaginal aplasia; Bifid uterus; Hypoplastic kidneys; Multicystic kidneys; Dysplastic kidneys; Renal failure; Vesicoureteral reflux; Urethral valves; Broad thumb; Bifid thumb; Triphalangeal thumb; Preaxial polydactyly; Pseudoepiphyses of second metacarpal; Fusion of triquetrum and hamate; Absent triquetrum and navicular bones; 2-3 and 3-4 finger syndactyly; Fusion of metatarsals; Short metatarsals; Absent/hypoplastic third toe; Fifth toe clinodactyly; 3-4 toe syndactyly; Mental retardation (rarely noted); Hypothyroidism (rare)]
Publications
This gene has been classified as Green List (High Evidence).
Phenotypes for SALL1 were set to Bilateral Microtia; 107480
Publications for SALL1 were set to 17431915; 8669439
Mode of inheritance for SALL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
SALL1 was added to Bilateral Microtiapanel. Sources: Expert list