Limb disorders
Gene: SALL4Comment 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.
UKTGN reports incomplete penetrance, estimated at 95%, for SALL4 and Duane-Radial Ray Syndrome (DRRS).Created: 13 Oct 2016, 11:06 a.m.
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.
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
Ana Beleza: Tier 2
Added phenotypes Duane-radial ray syndrome, 607323; IVIC syndrome, 147750 for gene: SALL4
Phenotypes for gene SALL4 were set to Okihiro (Duane-radial ray) syndrome 607323, IVIC syndrome 147750, Polydactyly, Radial Ray abnormality
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
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
London South East RGC GSTT was added to SALL4. Panel: Limb disorders
SALL4 was added to Limb disorders panel. Sources: Viapath
SALL4 was created by Ellen McDonagh