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Non-syndromic familial congenital anorectal malformations v1.9 LINC01082 Hannah Robinson gene: LINC01082 was added
gene: LINC01082 was added to Non-syndromic familial congenital anorectal malformations. 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
Non-syndromic familial congenital anorectal malformations v1.9 LINC01081 Hannah Robinson gene: LINC01081 was added
gene: LINC01081 was added to Non-syndromic familial congenital anorectal malformations. 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
Non-syndromic familial congenital anorectal malformations v0.105 FOXF1 Eleanor Williams Marked gene: FOXF1 as ready
Non-syndromic familial congenital anorectal malformations v0.105 FOXF1 Eleanor Williams Gene: foxf1 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.86 FOXF1 Eleanor Williams commented on gene: FOXF1: Genomics England clinical team suggest inclusion of this gene as an infant might be investigated for anorectal malformation before recognising the cause of the respiratory problems.
Non-syndromic familial congenital anorectal malformations v0.86 FOXF1 Eleanor Williams Classified gene: FOXF1 as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations v0.86 FOXF1 Eleanor Williams Added comment: Comment on list classification: Rating as green. 3 cases/families with point mutations in FOXF1 in individuals showing a anorectal malformation phenotype in patients with Alveolar capillary dysplasia with misalignment of pulmonary veins (PMID: 23505205) and a further case described in PMID: 26294094 from a patient with VATER/VACTERL or VATER/VACTERL-like phenotype.
Non-syndromic familial congenital anorectal malformations v0.86 FOXF1 Eleanor Williams Gene: foxf1 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.74 FOXF1 Eleanor Williams Phenotypes for gene: FOXF1 were changed from anorectal malformation; VATER/VACTERL-like; VATER/VACTERL to anorectal malformation; VATER/VACTERL-like; VATER/VACTERL; Alveolar capillary dysplasia with misalignment of pulmonary veins 265380
Non-syndromic familial congenital anorectal malformations v0.73 FOXF1 Eleanor Williams Publications for gene: FOXF1 were set to 26294094
Non-syndromic familial congenital anorectal malformations v0.72 FOXF1 Eleanor Williams Mode of inheritance for gene: FOXF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Non-syndromic familial congenital anorectal malformations v0.71 FOXF1 Eleanor Williams commented on gene: FOXF1: FOXF1 is associated with Alveolar capillary dysplasia with misalignment of pulmonary veins in OMIM and Gene2Phenotype (confirmed). Although the main features of this disorder are concerned a pulmonary phenotype, gastrointestinal phenotypes may also be seen including

Stankiewicz et al. (2009)(PMID: 19500772) identified four different heterozygous mutations (frameshift, nonsense, and no-stop) in the candidate FOXF1 gene in unrelated patients with sporadic Alveolar capillary dysplasia with misalignment of pulmonary veins and multiple congenital anomalies. They also identified microdeletions encompassing the FOX transcription factor gene cluster in chromosome 16q24.1q24.2 in some patients. They note an association of point mutations in FOXF1 with bowel malrotation, and that microdeletions of FOXF1 were associated with hypoplastic left heart syndrome and gastrointestinal atresias, probably due to haploinsufficiency for the neighboring FOXC2 and FOXL1 genes.

Sen et al. (2013)(PMID: 23505205) report a further set of 34 novel de novo and four familial mutations of which three are maternally inherited, in unrelated patients with ACD/MPV that imply a role for FOXF1 DNA-binding domain. Three maternally inherited cases are consistent with the finding that FOXF1 is paternally imprinted. Out of 42 patients with point mutations they report imperforate anus or anal atresia in 3 patients (7%), and other intestinal problems such as duedenal atresia, and intestinal malrotation in several more.

Slot et al (2018)(PMID: 30058937) provide a more recent review of the now over 200 reported cases.
Non-syndromic familial congenital anorectal malformations v0.50 FOXF1 Eleanor Williams Classified gene: FOXF1 as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.50 FOXF1 Eleanor Williams Added comment: Comment on list classification: Rating Amber as is on expert list.
Non-syndromic familial congenital anorectal malformations v0.50 FOXF1 Eleanor Williams Gene: foxf1 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.49 FOXF1 Eleanor Williams commented on gene: FOXF1: Gene added from expert list from Dr Charles Shaw-Smith (Royal Deveon and Exeter NHS Foundation Trust)
Non-syndromic familial congenital anorectal malformations v0.48 FOXF1 Eleanor Williams Added phenotypes anorectal malformation for gene: FOXF1
Non-syndromic familial congenital anorectal malformations v0.47 FOXF1 Eleanor Williams Source Expert list was added to FOXF1.
Added phenotypes anorectal malformation for gene: FOXF1
Non-syndromic familial congenital anorectal malformations FOXF1 Eleanor Williams commented on gene: FOXF1
Non-syndromic familial congenital anorectal malformations FOXF1 Eleanor Williams Added gene to panel