Limb disorders
Gene: SALL1EnsemblGeneIds (GRCh38): ENSG00000103449
EnsemblGeneIds (GRCh37): ENSG00000103449
OMIM: 602218, Gene2Phenotype
SALL1 is in 14 panels
3 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Clear causation for Townes-Brocks syndrome. Phenotype includes variable radial ray anomalies (polydactyly, triphalangeal thumb, hypoplastic thumb) therefore included in the broad differential.Created: 11 May 2017, 1:49 p.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 12 Jul 2016, 12:14 p.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 2Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert Review Green
- London South East RGC GSTT
- Viapath
- Phenotypes
-
- Radial Ray abnormality
- Polydactyly
- Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome), 107480
- Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480
- OMIM
- 602218
- Clinvar variants
- Variants in SALL1
- Penetrance
- None
- 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
- Fetal anomalies
- Structural eye disease
- Monogenic hearing loss
- Skeletal dysplasia
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ana Beleza: Tier 2
Set mode of inheritance, Set Phenotypes
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene SALL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome), 107480 for gene: SALL1
Set penetrance
Ellen McDonagh (Genomics England Curator)Phenotypes for gene SALL1 were set to Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480, Polydactyly, Radial Ray abnormality
Added New Source, Set penetrance
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to SALL1. Panel: Limb disorders Phenotypes for gene SALL1 were set to Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480, Polydactyly
Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Expert Review Green was added to SALL1. Panel: Limb disorders UKGTN was added to SALL1. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to SALL1. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to SALL1. Panel: Limb disorders Expert list was added to SALL1. Panel: Limb disorders Emory Genetics Laboratory was added to SALL1. Panel: Limb disorders Model of inheritance for gene SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)London South East RGC GSTT was added to SALL1. Panel: Limb disorders
Added New Source
Ellen McDonagh (Genomics England Curator)SALL1 was added to Limb disorders panel. Sources: Viapath
Created
Ellen McDonagh (Genomics England Curator)SALL1 was created by Ellen McDonagh