Radial dysplasia
Gene: SALL4EnsemblGeneIds (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 147750Created: 12 Jul 2016, 12:19 p.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 2Created: 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
panel promoted to version 1
Rebecca Foulger (Genomics England curator)23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for SALL4 were set to Duane-radial ray syndrome, 607323; IVIC syndrome, 147750
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for SALL4 were set to Duane-radial ray syndrome, 607323; IVIC syndrome 147750
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for SALL4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Rebecca Foulger (Genomics England curator)SALL4 was added to Radial dysplasiapanel. Sources: Expert list
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
Added New Source
Rebecca Foulger (Genomics England curator)SALL4 was added to Radial dysplasiapanel. Source: UKGTN
Created
Rebecca Foulger (Genomics England curator)SALL4 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)SALL4 was added to Radial dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen