Unexplained kidney failure in young people
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
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 5 Aug 2016, 10:21 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
- Phenotypes
-
- Townes-Brocks syndrome, 107480
- Townes-Brocks branchiootorenal-like syndrome, 107480
- OMIM
- 602218
- Clinvar variants
- Variants in SALL1
- Penetrance
- Complete
- Panels with this gene
-
- Radial dysplasia
- Intellectual disability
- CAKUT
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Unexplained young onset end-stage renal disease - additional genes
- Limb disorders
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
- DDG2P
- Structural eye disease
- Monogenic hearing loss
- Skeletal dysplasia
- Fetal anomalies
History Filter Activity
17 Aug 2016, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
5 Aug 2016, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
5 Aug 2016, Gel status: 4
Upload gene information
Sarah Leigh (Genomics England Curator)SALL1 was added to Unexplained kidney failure in young peoplepanel. Sources: Illumina TruGenome Clinical Sequencing Services
27 Jun 2016, Gel status: 4
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SALL1 were set to Townes-Brocks syndrome, 107480; Townes-Brocks branchiootorenal-like syndrome, 107480
18 May 2016, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)SALL1 was added to Unexplained kidney failure in young peoplepanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Eligibility statement prior genetic testing,Expert Review Green
18 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)SALL1 was created by sleigh