Non-syndromic familial congenital anorectal malformations inclusion criteria (41872)
Congenital anorectal malformation regardless of phenotype severity (imperforate anus through to cloaca)
At least one first or second degree relative with an anorectal malformation.
Disease status of apparently unaffected participants should be determined according to standard clinical practice to detect cryptic disease.
Unaffected individuals should not be recruited. Recruitment in such families should favour multiplex families over single isolated cases. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs.
Non-syndromic familial congenital anorectal malformations exclusion criteria (41872)
Additional clinical features suggestive of a multisystem syndrome other than VACTERL association.
For example, please do not recruit cases with clinical diagnoses of Currarino syndrome, Townes-Brockes syndrome or Pallister-Hall syndrome.
Prior genetic testing guidance (41872)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.
PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.
Non-syndromic familial congenital anorectal malformations prior genetic testing genes (41872)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:
No genes specified