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Limb disorders

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

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.

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.

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.

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

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

Set penetrance

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene SALL4 were set to Okihiro (Duane-radial ray) syndrome 607323, IVIC syndrome 147750, Polydactyly, Radial Ray abnormality

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to SALL4. Panel: Limb disorders Phenotypes for gene SALL4 were set to Okihiro (Duane-radial ray) syndrome 607323, IVIC syndrome 147750, Polydactyly

5 Apr 2018, Gel status: 4

Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Expert list was added to SALL4. Panel: Limb disorders Emory Genetics Laboratory was added to SALL4. Panel: Limb disorders Expert Review Green was added to SALL4. Panel: Limb disorders UKGTN was added to SALL4. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to SALL4. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to SALL4. Panel: Limb disorders Model of inheritance for gene SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to SALL4. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SALL4 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

SALL4 was created by Ellen McDonagh