Non-syndromic familial congenital anorectal malformations
Gene: SALL1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Townes-Brocks
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: LiteratureCreated: 26 Sep 2018, 9:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Townes-Brocks syndrome 1 107480
Eleanor Williams: Adding this gene as it is asso
Gene: sall1 has been classified as Green List (High Evidence).
Gene: sall1 has been classified as Green List (High Evidence).
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