Non-syndromic familial congenital anorectal malformations

Gene: LINC01082

Red List (low evidence)

Most patients with deletion CNVs affecting FOXF1 or its upstream enhancer region (including LINC01081 and LINC01082) do not present with anorectal malformations. Instead, they have other syndromic presentations.

In a review by Szafranski et al., 2016 (PMID: 27071622), 3/42 individuals presented with anorectal malformations (abnormal placement of anus or imperforate anus). 42/42 individuals were diagnosed with Alveolar capillary dysplasia with misalignment of pulmonary veins. Additional clinical features included cardiac defects (29/42), gastrointestinal issues such as intestinal malformations and duodenal atresia (15/42), genitourinary symptoms (15/42), and more.
Since most patients have a syndromic clinical presentation, usually excluding anorectal malformations, this gene does not fit into the scope of this panel.

LINC01082 is not yet associated with any phenotype in OMIM (accessed 16th Oct 2025).

Created: 16 Oct 2025, 1:14 p.m. | Last Modified: 16 Oct 2025, 1:14 p.m.

Panel Version: 1.9

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

Publications

• 27071622

Green List (high evidence)

LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer of FOXF1. Pathogenic variants in FOXF1 or deletions of its upstream enhancer region cause alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) (MIM265380). The majority of previously reported deletions of the upstream enhancer region have occurred de novo on the maternal allele.
Sources: NHS GMS

Created: 8 Aug 2025, 11:39 a.m.

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

Phenotypes
Alveolar capillary dysplasia with misalignment of pulmonary veins

Publications

• PMID: 27071622
• PMID: 27822317

Variants in this GENE are reported as part of current diagnostic practice