Radial dysplasia
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
-
- Expert Review Green
- Expert list
- Other
- UKGTN
- Phenotypes
-
- Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome), 107480
- 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
panel promoted to version 1
Rebecca Foulger (Genomics England curator)23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for SALL1 were set to Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome), 107480
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for SALL1 were set to Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480
Upload gene information
Rebecca Foulger (Genomics England curator)SALL1 was added to Radial dysplasiapanel. Sources: Expert list
Set Mode of Inheritance, Added New Source
Rebecca Foulger (Genomics England curator)SALL1 was added to Radial dysplasiapanel. Source: Other Model of inheritance for gene SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Created
Rebecca Foulger (Genomics England curator)SALL1 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)SALL1 was added to Radial dysplasiapanel. Sources: UKGTN