Choanal atresiaGene: SALL4
Comment on list classification: Choanal atresia is a minor feature of Duane-radial ray syndrome 607323 phenotype.
Created: 19 Sep 2016, 2:12 p.m.
Choanal atresia is a minor feature of Duane-radial ray syndrome 607323 phenotype. Numerous variants reported. Reconsider classification of this gene when promoting panel to V2
Created: 19 Sep 2016, 2:08 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Duane-radial ray syndrome 607323
This gene has been classified as Red List (Low Evidence).
SALL4 was created by sleigh
SALL4 was added to Choanal atresiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Other,Radboud University Medical Center, Nijmegen