Deafness and congenital structural abnormalities
Gene: SALL1Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 12 variants reported.Created: 19 Sep 2016, 1:31 p.m.
Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.Created: 12 Sep 2016, 2:45 p.m.
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
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).
Publications for SALL1 were set to 17431915; 8669439;10533063; 10928856; 10965108; 11102974; 11478532; 11484202; 11688560; 11751684; 12915476; 12925729; 14755477; 16088922; 16670092; 16892410; 17431915; 18000979; 18470945; 8133838; 8357560; 8975705; 9425907; 9973281
SALL1 was added to Deafness and congenital structural abnormalitiespanel. Source: Eligibility statement prior genetic testing
SALL1 was added to Deafness and congenital structural abnormalitiespanel. Source: UKGTN SALL1 was added to Deafness and congenital structural abnormalitiespanel. Source: Emory Genetics Laboratory SALL1 was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen SALL1 was added to Deafness and congenital structural abnormalitiespanel. Source: Illumina TruGenome Clinical Sequencing Services
SALL1 was created by sleigh
SALL1 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green