VACTERL-like phenotypes
Gene: SALL4EnsemblGeneIds (GRCh38): ENSG00000101115
EnsemblGeneIds (GRCh37): ENSG00000101115
OMIM: 607343, Gene2Phenotype
SALL4 is in 14 panels
2 reviews
Muriel Holder (Clinical Genetics, Guy's Hospital)
Ellen Thomas (Genomics England Curator)
Comment on list classification: Causes Okihiro syndrome which has significant phenotypic overlap with VACTERLCreated: 27 May 2016, 11:18 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- OMIM
- 607343
- Clinvar variants
- Variants in SALL4
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for SALL4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()SALL4 was added to VACTERL-like phenotypepanel. Sources: Emory Genetics Laboratory