Limb disorders
Gene: SALL1Comment 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.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 12 Jul 2016, 12:14 p.m.
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
Ana Beleza: Tier 2
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
Phenotypes for gene SALL1 were set to Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480, Polydactyly, Radial Ray abnormality
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
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
London South East RGC GSTT was added to SALL1. Panel: Limb disorders
SALL1 was added to Limb disorders panel. Sources: Viapath
SALL1 was created by Ellen McDonagh