VACTERL-like phenotypes
Gene: SALL1
SALL1 (spalt like transcription factor 1)
EnsemblGeneIds (GRCh38): ENSG00000103449
EnsemblGeneIds (GRCh37): ENSG00000103449
OMIM: 602218, Gene2Phenotype
SALL1 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000103449
EnsemblGeneIds (GRCh37): ENSG00000103449
OMIM: 602218, Gene2Phenotype
SALL1 is in 14 panels
2 reviews
Muriel Holder (Clinical Genetics, Guy's Hospital)
Ellen Thomas (Genomics England Curator)
Comment on list classification: Causes Townes-Brocks syndrome which has significant phenotypic overlap with VACTERLCreated: 27 May 2016, 11:13 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- OMIM
- 602218
- Clinvar variants
- Variants in SALL1
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal dysplasia
- Radial dysplasia
- CAKUT
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Unexplained young onset end-stage renal disease - additional genes
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Structural eye disease
- Monogenic hearing loss
- Intellectual disability
- Fetal anomalies
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
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 SALL1 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 ()SALL1 was added to VACTERL-like phenotypepanel. Sources: Emory Genetics Laboratory