VACTERL-like phenotypes

Gene: SALL4

Green List (high evidence)

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

2 reviews

Muriel Holder (Clinical Genetics, Guy's Hospital)

Green List (high evidence)

Ellen Thomas (Genomics England Curator)

Comment on list classification: Causes Okihiro syndrome which has significant phenotypic overlap with VACTERL
Created: 27 May 2016, 11:18 a.m.

Details

History Filter Activity

27 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for SALL4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SALL4 was added to VACTERL-like phenotypepanel. Sources: Emory Genetics Laboratory