Choanal atresia

Gene: SALL4

Red List (low evidence)

SALL4 (spalt like transcription factor 4)
EnsemblGeneIds (GRCh38): ENSG00000101115
EnsemblGeneIds (GRCh37): ENSG00000101115
OMIM: 607343, Gene2Phenotype
SALL4 is in 13 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

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

Phenotypes
Duane-radial ray syndrome 607323

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Duane-radial ray syndrome 607323
OMIM
607343
Clinvar variants
Variants in SALL4
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Sep 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

19 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SALL4 was created by sleigh

19 Sep 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

SALL4 was added to Choanal atresiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Other,Radboud University Medical Center, Nijmegen