Monogenic hearing loss
Gene: SALL1EnsemblGeneIds (GRCh38): ENSG00000103449
EnsemblGeneIds (GRCh37): ENSG00000103449
OMIM: 602218, Gene2Phenotype
SALL1 is in 14 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 reviewerCreated: 1 Feb 2016, 4:42 p.m.
Maria Bitner-Glindzicz (UCL)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- #107480:Townes-Brocks syndrome
- Townes-Brocks branchiootorenal-like syndrome
- OMIM
- 602218
- Clinvar variants
- Variants in SALL1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Skeletal dysplasia
- Unexplained young onset end-stage renal disease - additional genes
- Monogenic hearing loss
- DDG2P
- Structural eye disease
- Limb disorders
- Fetal anomalies
- Radial dysplasia
- Intellectual disability
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- CAKUT
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
History Filter Activity
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SALL1 were set to #107480:Townes-Brocks syndrome; Townes-Brocks branchiootorenal-like syndrome
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SALL1 were set to #107480:Townes-Brocks syndrome
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
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Damian Smedley (Genomics England Curator)Mode of inheritance for SALL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)SALL1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory