Radial dysplasia
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
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Phenotypes for SALL4 were set to Duane-radial ray syndrome, 607323; IVIC syndrome, 147750
This gene has been classified as Green List (High Evidence).
Phenotypes for SALL4 were set to Duane-radial ray syndrome, 607323; IVIC syndrome 147750
Mode of inheritance for SALL4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
SALL4 was added to Radial dysplasiapanel. Sources: Expert list
SALL4 was added to Radial dysplasiapanel. Source: Other Model of inheritance for gene SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SALL4 was added to Radial dysplasiapanel. Source: UKGTN
SALL4 was created by rfoulger
SALL4 was added to Radial dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen