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Hearing loss

Gene: SALL1

Green List (high evidence)

SALL1 (spalt like transcription factor 1)
EnsemblGeneIds (GRCh38): ENSG00000103449
EnsemblGeneIds (GRCh37): ENSG00000103449
OMIM: 602218, Gene2Phenotype
SALL1 is in 17 panels

3 reviews

Jun Shen (Harvard Medical School)

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

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from OMIM and expert reviewer
Created: 1 Feb 2016, 4:42 p.m.

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

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

History Filter Activity

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SALL1 were set to #107480:Townes-Brocks syndrome; Townes-Brocks branchiootorenal-like syndrome

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SALL1 were set to #107480:Townes-Brocks syndrome

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

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

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for SALL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SALL1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory