Radial dysplasia

Gene: SALL4

Green List (high evidence)

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.

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
  • Expert Review Green
  • Expert list
  • Other
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Duane-radial ray syndrome, 607323
  • IVIC syndrome, 147750
OMIM
607343
Clinvar variants
Variants in SALL4
Penetrance
Complete
Panels with this gene

History Filter Activity

23 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

22 May 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for SALL4 were set to Duane-radial ray syndrome, 607323; IVIC syndrome, 147750

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

11 May 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for SALL4 were set to Duane-radial ray syndrome, 607323; IVIC syndrome 147750

11 May 2017, Gel status: 4

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for SALL4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

6 Dec 2016, Gel status: 2

Upload gene information

Rebecca Foulger (Genomics England curator)

SALL4 was added to Radial dysplasiapanel. Sources: Expert list

13 Oct 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

SALL4 was added to Radial dysplasiapanel. Source: Other Model of inheritance for gene SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Oct 2016, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

SALL4 was added to Radial dysplasiapanel. Source: UKGTN

13 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SALL4 was created by rfoulger

13 Oct 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

SALL4 was added to Radial dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen