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17 Dec 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.7	FOXF1	Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #265380) and the OMIM record was last accessed on 17 December 2025.
17 Dec 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.7	FOXF1	Achchuthan Shanmugasundram Phenotypes for gene: FOXF1 were changed from to Alveolar capillary dysplasia with misalignment of pulmonary veins, OMIM:265380; alveolar capillary dysplasia with misalignment of pulmonary veins, MONDO:0009934
16 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.6	LINC01082	Ida Ertmanska edited their review of gene: LINC01082: Changed phenotypes to: Alveolar capillary dysplasia with misalignment of pulmonary veins
16 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.6	LINC01081	Ida Ertmanska edited their review of gene: LINC01081: Changed phenotypes to: Alveolar capillary dysplasia with misalignment of pulmonary veins
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.6	LINC01081	Achchuthan Shanmugasundram Tag cnv tag was added to gene: LINC01081.
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.6	LINC01082	Achchuthan Shanmugasundram Tag cnv tag was added to gene: LINC01082.
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.6	LINC01082	Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: LINC01082. Tag Q3_25_expert_review tag was added to gene: LINC01082. Tag Q3_25_NHS_review tag was added to gene: LINC01082.
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.6	LINC01082	Achchuthan Shanmugasundram Classified gene: LINC01082 as Amber List (moderate evidence)
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.6	LINC01082	Achchuthan Shanmugasundram Gene: linc01082 has been classified as Amber List (Moderate Evidence).
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.5	LINC01082	Achchuthan Shanmugasundram Publications for gene: LINC01082 were set to PMID: 27071622; PMID: 27822317
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.4	LINC01081	Achchuthan Shanmugasundram Publications for gene: LINC01081 were set to PMID: 27071622; PMID: 27822317
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.3	LINC01081	Achchuthan Shanmugasundram Classified gene: LINC01081 as Amber List (moderate evidence)
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.3	LINC01081	Achchuthan Shanmugasundram Gene: linc01081 has been classified as Amber List (Moderate Evidence).
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.2	LINC01081	Achchuthan Shanmugasundram Tag Q3_25_NHS_review tag was added to gene: LINC01081.
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.2	LINC01081	Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: LINC01081. Tag Q3_25_expert_review tag was added to gene: LINC01081.
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.2	LINC01081	Ida Ertmanska changed review comment from: Comment on list classification: 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). At least 10 other patients harboured a deletion that affected the FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622). The majority of CNVs arose de novo on the maternal allele - suspected imprinting of paternal allele. Based on the available evidence, this gene should be rated GREEN for Alveolar capillary dysplasia with misalignment of pulmonary veins.; to: Comment on list classification: 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). At least 10 other patients harboured a deletion that affected the FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622). Hence, the testing region should be expanded to include the enhancer. The majority of CNVs arose de novo on the maternal allele - suspected imprinting of paternal allele. Based on the available evidence, this gene should be rated GREEN for Alveolar capillary dysplasia with misalignment of pulmonary veins.
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.2	LINC01082	Ida Ertmanska commented on gene: LINC01082: Comment on list classification: Genes in the FOXF1 enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). There is only 1 individual with ACDMPV where only LINC01082 has been deleted, without affecting FOXF1 or LINC01081 (PMID: 24842713). 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). Hence, the testing region should be expanded to include the enhancer. The majority of CNVs arose de novo on the maternal allele - suspected imprinting of paternal allele. Based on the available evidence, this gene should be rated GREEN for Alveolar capillary dysplasia with misalignment of pulmonary veins.
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.2	LINC01082	Ida Ertmanska reviewed gene: LINC01082: Rating: GREEN; Mode of pathogenicity: None; Publications: 19500772, 23034409, 24842713, 27071622; Phenotypes: Alveolar capillary dysplasia with misalignment of pulmonary veins, OMIM:265380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.2	LINC01081	Ida Ertmanska changed review comment from: 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). 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: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact. Genomic positions reference (GRh37/hg19): FOXF1 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted. PMID: 19500772 Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. PMID: 23034409 Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted PMID: 24842713 Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: 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). 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: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact. Genomic positions reference (GRh37/hg19): FOXF1 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted. PMID: 19500772 Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. PMID: 23034409 Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted PMID: 24842713 Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.2	LINC01081	Ida Ertmanska changed review comment from: 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). 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: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact. FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted. PMID: 19500772 Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. PMID: 23034409 Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted PMID: 24842713 Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: 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). 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: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact. Genomic positions reference (GRh37/hg19): FOXF1 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted. PMID: 19500772 Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. PMID: 23034409 Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted PMID: 24842713 Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.2	LINC01081	Ida Ertmanska changed review comment from: 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). 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. PMID: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact. FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted. PMID: 19500772 Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. PMID: 23034409 Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted PMID: 24842713 Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: 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). 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: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact. FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted. PMID: 19500772 Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. PMID: 23034409 Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted PMID: 24842713 Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.2	LINC01081	Ida Ertmanska commented on gene: LINC01081: Comment on list classification: 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). At least 10 other patients harboured a deletion that affected the FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622). The majority of CNVs arose de novo on the maternal allele - suspected imprinting of paternal allele. Based on the available evidence, this gene should be rated GREEN for Alveolar capillary dysplasia with misalignment of pulmonary veins.
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.2	LINC01081	Ida Ertmanska edited their review of gene: LINC01081: Changed publications to: 19500772, 23034409, 24842713, 27071622
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.2	LINC01081	Ida Ertmanska changed review comment from: 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). 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. PMID: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact. FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both enhancers affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted. PMID: 19500772 Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. PMID: 23034409 Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted PMID: 24842713 Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: 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). 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. PMID: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact. FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted. PMID: 19500772 Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. PMID: 23034409 Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted PMID: 24842713 Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.2	LINC01081	Ida Ertmanska changed review comment from: 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). Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. Aside from Alveolar capillary dysplasia with misalignment of pulmonary veins, cardiac, gastrointestinal and genitourinary phenotypes are also common. PMID: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact. FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both enhancers affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted. PMID: 19500772 Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. PMID: 23034409 Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted PMID: 24842713 Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: 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). 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. PMID: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact. FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both enhancers affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted. PMID: 19500772 Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. PMID: 23034409 Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted PMID: 24842713 Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.2	LINC01081	Ida Ertmanska changed review comment from: 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). Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. Aside from Alveolar capillary dysplasia with misalignment of pulmonary veins, cardiac, gastrointestinal and genitourinary phenotypes are also common. PMID: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact. FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both enhancers affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted. PMID: 19500772 Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. PMID: 23034409 Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted PMID: 24842713 Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function; to: 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). Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. Aside from Alveolar capillary dysplasia with misalignment of pulmonary veins, cardiac, gastrointestinal and genitourinary phenotypes are also common. PMID: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact. FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both enhancers affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted. PMID: 19500772 Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. PMID: 23034409 Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted PMID: 24842713 Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.2	LINC01081	Ida Ertmanska changed review comment from: 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). Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. Aside from Alveolar capillary dysplasia with misalignment of pulmonary veins, cardiac, gastrointestinal and genitourinary phenotypes are also common. PMID: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs harbored only the upstream enhancer, leaving FOXF1 intact. FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both enhancers affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both enhancers affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both enhancers affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595); additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both enhancers affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both enhancers affected, IRF8 also deleted. PMID: 19500772 Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both enhancers affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both enhancers deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. PMID: 23034409 Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both enhancers are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted PMID: 24842713 Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both enhancers affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function; to: 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). Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. Aside from Alveolar capillary dysplasia with misalignment of pulmonary veins, cardiac, gastrointestinal and genitourinary phenotypes are also common. PMID: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact. FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both enhancers affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted. PMID: 19500772 Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. PMID: 23034409 Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted PMID: 24842713 Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.2	LINC01081	Ida Ertmanska changed review comment from: 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 ACDMPV. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. Aside from Alveolar capillary dysplasia with misalignment of pulmonary veins, cardiac, gastrointestinal and genitourinary phenotypes are also common. PMID: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs harbored only the upstream enhancer, leaving FOXF1 intact. FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both enhancers affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both enhancers affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both enhancers affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595); additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both enhancers affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both enhancers affected, IRF8 also deleted. PMID: 19500772 Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both enhancers affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both enhancers deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. PMID: 23034409 Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both enhancers are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted PMID: 24842713 Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both enhancers affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function; to: 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). Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. Aside from Alveolar capillary dysplasia with misalignment of pulmonary veins, cardiac, gastrointestinal and genitourinary phenotypes are also common. PMID: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs harbored only the upstream enhancer, leaving FOXF1 intact. FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both enhancers affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both enhancers affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both enhancers affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595); additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both enhancers affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both enhancers affected, IRF8 also deleted. PMID: 19500772 Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both enhancers affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both enhancers deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. PMID: 23034409 Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both enhancers are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted PMID: 24842713 Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both enhancers affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.2	LINC01081	Ida Ertmanska changed review comment from: Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. Aside from Alveolar capillary dysplasia with misalignment of pulmonary veins, cardiac, gastrointestinal and genitourinary phenotypes are also common. PMID: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs harbored only the upstream enhancer, leaving FOXF1 intact. FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both enhancers affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both enhancers affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both enhancers affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595); additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both enhancers affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both enhancers affected, IRF8 also deleted. PMID: 19500772 Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both enhancers affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both enhancers deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. PMID: 23034409 Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both enhancers are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted PMID: 24842713 Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both enhancers affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function; to: 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 ACDMPV. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. Aside from Alveolar capillary dysplasia with misalignment of pulmonary veins, cardiac, gastrointestinal and genitourinary phenotypes are also common. PMID: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs harbored only the upstream enhancer, leaving FOXF1 intact. FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both enhancers affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both enhancers affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both enhancers affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595); additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both enhancers affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both enhancers affected, IRF8 also deleted. PMID: 19500772 Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both enhancers affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both enhancers deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. PMID: 23034409 Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both enhancers are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted PMID: 24842713 Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both enhancers affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.2	LINC01081	Ida Ertmanska changed review comment from: Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. Aside from Alveolar capillary dysplasia with misalignment of pulmonary veins, cardiac, gastrointestinal and genitourinary phenotypes are also common. PMID: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs harbored only the upstream enhancer, leaving FOXF1 intact. FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both enhancers affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both enhancers affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both enhancers affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595); additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both enhancers affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both enhancers affected, IRF8 also deleted. PMID: 19500772 Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both enhancers affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both enhancers deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. PMID: 23034409 Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both enhancers are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted PMID: 24842713 Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both enhancers affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function; to: Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. Aside from Alveolar capillary dysplasia with misalignment of pulmonary veins, cardiac, gastrointestinal and genitourinary phenotypes are also common. PMID: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs harbored only the upstream enhancer, leaving FOXF1 intact. FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both enhancers affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both enhancers affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both enhancers affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595); additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both enhancers affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both enhancers affected, IRF8 also deleted. PMID: 19500772 Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both enhancers affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both enhancers deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. PMID: 23034409 Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both enhancers are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted PMID: 24842713 Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both enhancers affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.2	LINC01081	Ida Ertmanska changed review comment from: Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. Aside from Alveolar capillary dysplasia with misalignment of pulmonary veins, cardiac, gastrointestinal and genitourinary phenotypes are also common. PMID: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs harbored only the upstream enhancer, leaving FOXF1 intact. FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both enhancers affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both enhancers affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both enhancers affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595); additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both enhancers affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both enhancers affected, IRF8 also deleted. Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both enhancers affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both enhancers deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both enhancers are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both enhancers affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function; to: Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. Aside from Alveolar capillary dysplasia with misalignment of pulmonary veins, cardiac, gastrointestinal and genitourinary phenotypes are also common. PMID: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs harbored only the upstream enhancer, leaving FOXF1 intact. FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both enhancers affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both enhancers affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both enhancers affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595); additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both enhancers affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both enhancers affected, IRF8 also deleted. PMID: 19500772 Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both enhancers affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both enhancers deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. PMID: 23034409 Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both enhancers are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted PMID: 24842713 Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both enhancers affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.2	LINC01081	Ida Ertmanska changed review comment from: PMID: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs harbored only the upstream enhancer, leaving FOXF1 intact. FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both enhancers affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both enhancers affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both enhancers affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595); additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both enhancers affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both enhancers affected, IRF8 also deleted. Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both enhancers affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both enhancers deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both enhancers are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both enhancers affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function; to: Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. Aside from Alveolar capillary dysplasia with misalignment of pulmonary veins, cardiac, gastrointestinal and genitourinary phenotypes are also common. PMID: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs harbored only the upstream enhancer, leaving FOXF1 intact. FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both enhancers affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both enhancers affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both enhancers affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595); additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both enhancers affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both enhancers affected, IRF8 also deleted. Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both enhancers affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both enhancers deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both enhancers are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both enhancers affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.2	LINC01081	Ida Ertmanska changed review comment from: PMID: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs harbored only the upstream enhancer, leaving FOXF1 intact. FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both enhancers affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both enhancers affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both enhancers affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595); additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both enhancers affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both enhancers affected, IRF8 also deleted. Article also summarised novel and previous cases (42 reported deletion CNVs) reported in Stankiewicz et al. (2009), Yu et al. (2010), Zufferey et al (2011), Garabedian et al. (2012), Handrigan et al. (2013), Sen et al. (2013b), Szafranski et al. (2013a), Szafranski et al. (2014), Prothro et al. (2015), PMID: 27071622 Szafranski et al., 2016:; to: PMID: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs harbored only the upstream enhancer, leaving FOXF1 intact. FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both enhancers affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both enhancers affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both enhancers affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595); additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both enhancers affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both enhancers affected, IRF8 also deleted. Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both enhancers affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both enhancers deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both enhancers are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both enhancers affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function
15 Oct 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.2	LINC01081	Ida Ertmanska reviewed gene: LINC01081: Rating: GREEN; Mode of pathogenicity: None; Publications: 27071622; Phenotypes: Alveolar capillary dysplasia with misalignment of pulmonary veins, OMIM:265380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
08 Aug 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.2	LINC01082	Hannah Robinson gene: LINC01082 was added gene: LINC01082 was added to Alveolar capillary dysplasia with misalignment of pulmonary veins. Sources: NHS GMS Mode of inheritance for gene: LINC01082 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LINC01082 were set to PMID: 27071622; PMID: 27822317 Phenotypes for gene: LINC01082 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins Penetrance for gene: LINC01082 were set to Complete Review for gene: LINC01082 was set to GREEN gene: LINC01082 was marked as current diagnostic Added comment: 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
08 Aug 2025	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.2	LINC01081	Hannah Robinson gene: LINC01081 was added gene: LINC01081 was added to Alveolar capillary dysplasia with misalignment of pulmonary veins. 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 Added comment: 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
14 Sep 2023	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.1		Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14
14 Sep 2023	Alveolar capillary dysplasia with misalignment of pulmonary veins v1.0		Achchuthan Shanmugasundram promoted panel to version 1.0
14 Sep 2023	Alveolar capillary dysplasia with misalignment of pulmonary veins v0.8		Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
12 Sep 2023	Alveolar capillary dysplasia with misalignment of pulmonary veins v0.7		Achchuthan Shanmugasundram Panel status changed from internal to public
28 Jun 2023	Alveolar capillary dysplasia with misalignment of pulmonary veins v0.6		Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease
23 Jan 2023	Alveolar capillary dysplasia with misalignment of pulmonary veins v0.5		Eleanor Williams Panel status changed from public to internal
16 Jan 2023	Alveolar capillary dysplasia with misalignment of pulmonary veins v0.4		Eleanor Williams Panel status changed from internal to public Panel types changed to
14 Jan 2023	Alveolar capillary dysplasia with misalignment of pulmonary veins v0.3	FOXF1	Eleanor Williams changed review comment from: FOXF1 has been added to the panel for R330 Alveolar capillary dysplasia with misalignment of pulmonary veins with a green rating as agreed with the NHS Genomic Medicine Service.; to: FOXF1 has been added to the panel for the clinical indication 'R330 Alveolar capillary dysplasia with misalignment of pulmonary veins' with a green rating as agreed with the NHS Genomic Medicine Service.
14 Jan 2023	Alveolar capillary dysplasia with misalignment of pulmonary veins v0.3	FOXF1	Eleanor Williams reviewed gene: FOXF1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Jan 2023	Alveolar capillary dysplasia with misalignment of pulmonary veins v0.2	FOXF1	Eleanor Williams gene: FOXF1 was added gene: FOXF1 was added to Alveolar capillary dysplasia with misalignment of pulmonary veins. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Jan 2023	Alveolar capillary dysplasia with misalignment of pulmonary veins v0.1		Eleanor Williams Panel types changed to GMS Rare Disease
14 Dec 2022	Alveolar capillary dysplasia with misalignment of pulmonary veins v0.0		Eleanor Williams Added Panel Alveolar capillary dysplasia with misalignment of pulmonary veins Set list of related panels to R330