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Fetal anomalies

Gene: LINC01081

Amber List (moderate evidence)
LINC01081 (long intergenic non-protein coding RNA 1081)
EnsemblGeneIds (GRCh38): ENSG00000268754
EnsemblGeneIds (GRCh37): ENSG00000268754
OMIM: 614977, Gene2Phenotype
LINC01081 is in 3 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype.

There are at least 3 reported unrelated individuals with Alveolar capillary dysplasia with misalignment of pulmonary veins, where LINC01081 (either part or whole gene) has been deleted (PMID: 27071622, 23034409) - with LINC01082 and FOXF1 being intact. At least 10 other patients harboured a deletion that affected the wider FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622).
Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. According to PMID:36157490 Szafranski et al., 2022, 50 reported de novo CNV deletions arose on the maternal chromosome 16 and only 3 de novo CNV deletions arose on the paternal chromosome 16.

PMID: 40869921 Fumini et al., 2025
Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward.

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
Created: 15 Oct 2025, 12:47 p.m. | Last Modified: 15 Oct 2025, 1:04 p.m.
Panel Version: 6.97

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

Phenotypes
Alveolar capillary dysplasia with misalignment of pulmonary veins

Publications

Created: 15 Oct 2025, 12:47 p.m.
Last Modified: 15 Oct 2025, 1:04 p.m.
Panel version: 6.101

Hannah Robinson (South West Genomic Laboratory Hub)

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, 11:40 a.m.

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

Phenotypes
Alveolar capillary dysplasia with misalignment of pulmonary veins

Publications

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

Created: 8 Aug 2025, 11:40 a.m.

Panel version: 6.15

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Alveolar capillary dysplasia with misalignment of pulmonary veins
Tags
cnv Q3_25_promote_green Q3_25_expert_review Q3_25_NHS_review
OMIM
614977
Clinvar variants
Variants in LINC01081
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Oct 2025, Gel status: 2

Added Tag, Added Tag, Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag cnv tag was added to gene: LINC01081. Tag Q3_25_promote_green tag was added to gene: LINC01081. Tag Q3_25_expert_review tag was added to gene: LINC01081. Tag Q3_25_NHS_review tag was added to gene: LINC01081.

15 Oct 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: linc01081 has been classified as Amber List (Moderate Evidence).

15 Oct 2025, Gel status: 0

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: LINC01081 were set to PMID: 27071622; PMID: 27822317

8 Aug 2025, Gel status: 0

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

Hannah Robinson (South West Genomic Laboratory Hub)

gene: LINC01081 was added gene: LINC01081 was added to Fetal anomalies. Sources: NHS GMS Mode of inheritance for gene: LINC01081 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LINC01081 were set to PMID: 27071622; PMID: 27822317 Phenotypes for gene: LINC01081 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins Penetrance for gene: LINC01081 were set to Complete Review for gene: LINC01081 was set to GREEN gene: LINC01081 was marked as current diagnostic