Skeletal dysplasia
Gene: SALL4
Limb hypoplasia-reduction defects gp of SD, several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Okihiro (Duane-radial ray) syndrome 607323; IVIC syndrome 147750
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SALL4; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 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
Added phenotypes Okihiro (Duane-radial ray) syndrome 607323; IVIC syndrome 147750 for gene: SALL4
Source NHS GMS was added to SALL4. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for SALL4 were set to Okihiro (Duane-radial ray) syndrome 607323; IVIC syndrome 147750
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SALL4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
SALL4 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
SALL4 was added to Unexplained skeletal dysplasiapanel. Sources:
SALL4 was created by sleigh