Monogenic hearing loss
Gene: SALL1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#107480:Townes-Brocks syndrome[Microcephaly; Overfolding of superior helixLarge earsPreauricular tagsPreauricular pitsMicrotiaSatyr earSensorineural hearing loss; Chorioretinal coloboma (rare)Duane anomaly (rare); Tetralogy of FallotVentricular septal defect; Duodenal atresiaImperforate anusAnal stenosisAnterior placement of anusRectovaginal/rectoperineal fistulaGastroesophageal refluxUmbilical hernia; HypospadiasBifid scrotumProminent midline perineal raphe; Cryptorchidism; Rectovaginal fistulaVaginal aplasiaBifid uterus; Hypoplastic kidneysMulticystic kidneysDysplastic kidneysRenal failure; Vesicoureteral reflux; Urethral valves; Broad thumbBifid thumbTriphalangeal thumbPreaxial polydactylyPseudoepiphyses of second metacarpalFusion of triquetrum and hamateAbsent triquetrum and navicular bones2-3 and 3-4 finger syndactyly; Fusion of metatarsalsShort metatarsalsAbsent/hypoplastic third toeFifth toe clinodactyly3-4 toe syndactyly; Mental retardation (rarely noted); Hypothyroidism (rare); Caused by mutation in the sal-like 1 gene (SALL1,)]
Publications
Comment on list classification: Good evidence from OMIM and expert reviewerCreated: 1 Feb 2016, 4:42 p.m.
causes syndromic hearing loss (Townes Brock) which is variable. I would want to know about a Tier 1 variant in this gene.Created: 19 Oct 2015, 6:47 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for SALL1 were set to #107480:Townes-Brocks syndrome; Townes-Brocks branchiootorenal-like syndrome
Phenotypes for SALL1 were set to #107480:Townes-Brocks syndrome
Publications for SALL1 were set to PMID:10533063; 10928856; 10965108; 11102974; 11478532; 11484202; 11688560; 11751684; 12915476; 12925729; 14755477; 16088922; 16670092; 16892410; 17431915; 18000979; 18470945; 8133838; 8357560; 8975705; 9425907; 9973281
This gene has been classified as Green List (High Evidence).
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 Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory