| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Non-syndromic familial congenital anorectal malformations v0.119 | SALL1 | Eleanor Williams Marked gene: SALL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-syndromic familial congenital anorectal malformations v0.119 | SALL1 | Eleanor Williams Gene: sall1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-syndromic familial congenital anorectal malformations v0.103 | SALL1 | Charles Shaw-Smith reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Townes-Brocks; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-syndromic familial congenital anorectal malformations v0.103 | SALL1 | Charles Shaw-Smith reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-syndromic familial congenital anorectal malformations v0.65 | SALL1 | Eleanor Williams Classified gene: SALL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-syndromic familial congenital anorectal malformations v0.65 | SALL1 | Eleanor Williams Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-syndromic familial congenital anorectal malformations v0.65 | SALL1 | Eleanor Williams Gene: sall1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-syndromic familial congenital anorectal malformations v0.59 | SALL1 | Eleanor Williams commented on gene: SALL1: 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-syndromic familial congenital anorectal malformations v0.59 | SALL1 |
Eleanor Williams 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 Added comment: 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 |
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