Deafness and congenital structural abnormalities
Gene: SALL4Comment on list classification: Could present with isolated ear / hearing manifestationsCreated: 25 Oct 2016, 4:18 p.m.
SALL4 can be associated with Okihiro Sd but very wide range of variability
Deafness/dysplastic ears could be the only findingsCreated: 17 Oct 2016, 12:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity
Other
Comment on list classification: Confirmed DD gene for DUANE-RADIAL RAY SYNDROME and ACRO-RENAL-OCULAR SYNDROME. One large family reported in OMIM for IVIC syndrome, and multiple cases with different variants reported for Duane-radial ray syndrome.Created: 14 Oct 2016, 12:22 p.m.
26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
SALL4 was added to Deafness and congenital structural abnormalitiespanel. Source: Eligibility statement prior genetic testing SALL4 was added to Deafness and congenital structural abnormalitiespanel. Source: Illumina TruGenome Clinical Sequencing Services SALL4 was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen SALL4 was added to Deafness and congenital structural abnormalitiespanel. Source: UKGTN
SALL4 was created by sleigh
SALL4 was added to Deafness and congenital structural abnormalitiespanel. Sources: Emory Genetics Laboratory,Expert Review Amber