Non-syndromic familial congenital anorectal malformations

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

2 reviews

Charles Shaw-Smith (Royal Devon and Exeter NHS Trust)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Townes-Brocks

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Rating as Green following feedback from the Genomics England clinical team. Although not all cases of Townes-Brocks syndrome 1 present with this phenotype, it is conceivably part of the presenting phenotype.
Created: 4 Oct 2018, 4:24 p.m.
This gene is associated with Townes-Brocks syndrome in OMIM. The syndrome is characterised by the triad of imperforate anus, dysplastic ears, and thumb malformations. More than three cases of families with Townes-Brocks syndrome and a mutation in the SALL1 gene have been reported. However, not all cases present with anorectal malformations. Cases reported that do present with ARM include those reported by Liberalesso et al 2017 (PMID: 29110636), Kosaki et al 2007 (PMID: 17431915) and Lin et al (2016) (PMID: 27073431).
Created: 26 Sep 2018, 9:34 a.m.
Adding this gene as it is associated with Townes-Brocks syndrome in OMIM. Although patients known to have this syndrome are not covered by the panel, it may be useful to include this gene to cover cases where the syndrome has not been already identified.
Sources: Literature
Created: 26 Sep 2018, 9:08 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Townes-Brocks syndrome 1 107480

History Filter Activity

8 Nov 2018, Gel status: 3

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: Adding this gene as it is asso

7 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: sall1 has been classified as Green List (High Evidence).

4 Oct 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: sall1 has been classified as Green List (High Evidence).

26 Sep 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: SALL1 was added gene: SALL1 was added to Non-syndromic familial congenital anorectal malformations. Sources: Literature Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SALL1 were set to Townes-Brocks syndrome 1 107480 Review for gene: SALL1 was set to AMBER