FOXF1

forkhead box F1
OMIM: 601089, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red FOXF1 in Cerebral vascular malformations


Level 2: Neurology
Version 4.10
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380
  • Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
Red FOXF1 in Hereditary haemorrhagic telangiectasia


Level 2: Respiratory
Version 3.7
Latest signed off version: v3.0 (30 Nov 2022)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alveolar capillary dysplasia with misalignment of pulmonary veins 265380
Green FOXF1 in Non-syndromic familial congenital anorectal malformations

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.14

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • anorectal malformation
  • VATER/VACTERL-like
  • VATER/VACTERL
  • Alveolar capillary dysplasia with misalignment of pulmonary veins 265380
Green FOXF1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS
Green FOXF1 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS 265380
    Red FOXF1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380
    Green FOXF1 in Alveolar capillary dysplasia with misalignment of pulmonary veins


    Level 2: Respiratory
    Version 1.8
    Latest signed off version: v1.0 (14 Sep 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Alveolar capillary dysplasia with misalignment of pulmonary veins, OMIM:265380
    • alveolar capillary dysplasia with misalignment of pulmonary veins, MONDO:0009934