Deafness and congenital structural abnormalities

Gene: SALL4

Green List (high evidence)

SALL4 (spalt like transcription factor 4)
EnsemblGeneIds (GRCh38): ENSG00000101115
EnsemblGeneIds (GRCh37): ENSG00000101115
OMIM: 607343, Gene2Phenotype
SALL4 is in 13 panels

3 reviews

Richard Scott (Genomics England Curator)

Comment on list classification: Could present with isolated ear / hearing manifestations
Created: 25 Oct 2016, 4:18 p.m.

Muriel Holder (Clinical Genetics, Guy's Hospital)

Green List (high evidence)

SALL4 can be associated with Okihiro Sd but very wide range of variability
Deafness/dysplastic ears could be the only findings
Created: 17 Oct 2016, 12:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mode of pathogenicity
Other

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Confirmed DD gene for DUANE-RADIAL RAY SYNDROME and ACRO-RENAL-OCULAR SYNDROME. One large family reported in OMIM for IVIC syndrome, and multiple cases with different variants reported for Duane-radial ray syndrome.
Created: 14 Oct 2016, 12:22 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
Phenotypes
  • Familial hemifacial microsomia with abnormal thumbs
  • hearing loss panel
  • Duane-radial ray syndrome, 607323
  • SALL4-Related Spectrum Dis
OMIM
607343
Clinvar variants
Variants in SALL4
Penetrance
Complete
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.

26 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

25 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

14 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

5 Oct 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

SALL4 was added to Deafness and congenital structural abnormalitiespanel. Source: Eligibility statement prior genetic testing SALL4 was added to Deafness and congenital structural abnormalitiespanel. Source: Illumina TruGenome Clinical Sequencing Services SALL4 was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen SALL4 was added to Deafness and congenital structural abnormalitiespanel. Source: UKGTN

5 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SALL4 was created by sleigh

5 Oct 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

SALL4 was added to Deafness and congenital structural abnormalitiespanel. Sources: Emory Genetics Laboratory,Expert Review Amber