FOXH1

forkhead box H1
OMIM: 603621, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Red FOXH1 in Familial Neural Tube Defects


Version 1.11

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Holoprosencephaly
Red FOXH1 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.24

review Not set
Sources
  • Emory Genetics Laboratory
Red FOXH1 in Pituitary hormone deficiency


Level 2: Endocrinology
Version 4.7
Latest signed off version: v4.6 (6 May 2026)

review Unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Holoprosencephaly
  • No OMIM number
Red FOXH1 in Familial non syndromic congenital heart disease

Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.90

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Venticular septal defect, transposition of the great arteries
Red FOXH1 in Holoprosencephaly


Level 2: Neurology
Version 6.1
Latest signed off version: v6.0 (6 May 2026)

Component of the following Super Panels:

  • Cerebral malformation
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Red
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Holoprosencephaly
    Red FOXH1 in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.56

    review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies
    Red FOXH1 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 9.9
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Emory Genetics Laboratory
    Red FOXH1 in Paediatric disorders - additional genes


    Level 2: Developmental disorders
    Version 8.6
    Latest signed off version: v8.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Unknown
    Sources
    • South West GLH
    Red FOXH1 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.182

    review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Ciliopathies