Limb disorders
Gene: SALL4

SALL4 (spalt like transcription factor 4)
EnsemblGeneIds (GRCh38): ENSG00000101115
EnsemblGeneIds (GRCh37): ENSG00000101115
OMIM: 607343, Gene2Phenotype
SALL4 is in 14 panels

4 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: As per reviews, numerous variants reported with Duane-Radial ray syndrome (aka Okihiro). Phenotype appropriate, therefore green.
Created: 11 May 2017, 10:33 a.m.

Created: 11 May 2017, 10:33 a.m.

Panel version: Imported from Radial dysplasia panel version 0.93

Rebecca Foulger (Genomics England curator)

UKTGN reports incomplete penetrance, estimated at 95%, for SALL4 and Duane-Radial Ray Syndrome (DRRS).
Created: 13 Oct 2016, 11:06 a.m.

Created: 13 Oct 2016, 11:06 a.m.

Panel version: Imported from Radial dysplasia panel version 0.4

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in Duane-radial ray syndrome 607323 and one variant in IVIC syndrome 147750
Created: 12 Jul 2016, 12:19 p.m.

Created: 12 Jul 2016, 12:19 p.m.

Panel version: Imported from Unexplained skeletal dysplasia panel version 0.585

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:07 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Okihiro (Duane-radial ray) syndrome 607323; IVIC syndrome 147750

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:07 a.m.

Panel version: Imported from Unexplained skeletal dysplasia panel version 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Victorian Clinical Genetics Services
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
UKGTN
Expert Review Green
Emory Genetics Laboratory
Expert list
London South East RGC GSTT
Viapath

Phenotypes

Polydactyly
IVIC syndrome, 147750
Radial Ray abnormality
IVIC syndrome 147750
Duane-radial ray syndrome, 607323
Okihiro (Duane-radial ray) syndrome 607323

OMIM

607343

Clinvar variants

Variants in SALL4

Penetrance

None

Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 2

16 Oct 2018, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Added phenotypes Duane-radial ray syndrome, 607323; IVIC syndrome, 147750 for gene: SALL4

13 Aug 2018, Gel status: 4