Radial dysplasia
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
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Phenotypes for SALL1 were set to Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome), 107480
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for SALL1 were set to Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480
SALL1 was added to Radial dysplasiapanel. Sources: Expert list
SALL1 was added to Radial dysplasiapanel. Source: Other Model of inheritance for gene SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SALL1 was created by rfoulger
SALL1 was added to Radial dysplasiapanel. Sources: UKGTN