Radial dysplasia

Gene: SALL1

Green List (high evidence)

SALL1 (spalt like transcription factor 1)
EnsemblGeneIds (GRCh38): ENSG00000103449
EnsemblGeneIds (GRCh37): ENSG00000103449
OMIM: 602218, Gene2Phenotype
SALL1 is in 17 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)

Green List (high evidence)

Tier 2
Created: 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

History Filter Activity

23 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

22 May 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for SALL1 were set to Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome), 107480

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 1

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for SALL1 were set to Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480

6 Dec 2016, Gel status: 1

Upload gene information

Rebecca Foulger (Genomics England curator)

SALL1 was added to Radial dysplasiapanel. Sources: Expert list

18 Oct 2016, Gel status: 1

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

18 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SALL1 was created by rfoulger

18 Oct 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

SALL1 was added to Radial dysplasiapanel. Sources: UKGTN