1. Panels
  2. Deafness and congenital structural abnormalities
  3. SALL1
STRs in panel
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Deafness and congenital structural abnormalities

Gene: SALL1

Green List (high evidence)
SALL1 (spalt like transcription factor 1)
EnsemblGeneIds (GRCh38): ENSG00000103449
EnsemblGeneIds (GRCh37): ENSG00000103449
OMIM: 602218, Gene2Phenotype
SALL1 is in 14 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Comment 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.
Created: 19 Sep 2016, 1:31 p.m.

Panel version: Imported from "Familial hemifacial microsomia" panel version 0.131

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.
Created: 12 Sep 2016, 2:45 p.m.
Created: 12 Sep 2016, 2:45 p.m.

Panel version: Imported from "Ear malformations with hearing impairment" panel version 0.60

Jun Shen (Harvard Medical School)

Green List (high evidence)

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

Created: 9 Feb 2016, 5:16 p.m.

Panel version: Imported from "Bilateral microtia" panel version 1.0

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

MIM 107480
Created: 3 Feb 2016, 9:26 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Causes TOWNES-BROCKS syndrome; syndromic features

Publications

Created: 3 Feb 2016, 9:26 p.m.

Panel version: Imported from "Bilateral microtia" panel version 0.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 107480
  • Familial hemifacial microsomia with abnormal thumbs or anal anomaly
  • Bilateral Microtia, 107480
  • Townes-Brocks Syndrome, 107480
  • Hearing loss panel
OMIM
602218
Clinvar variants
Variants in SALL1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

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.

14 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

14 Oct 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

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

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

SALL1 was added to Deafness and congenital structural abnormalitiespanel. Source: Eligibility statement prior genetic testing

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

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

5 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SALL1 was created by sleigh

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

SALL1 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green