FOXH1

forkhead box H1
OMIM: 603621, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber FOXH1 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.512

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital heart disease, MONDO:0005453, FOXH1-related

Amber FOXH1 in Mendeliome


Version 1.3833

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital heart disease
  • holoprosencephaly

Red FOXH1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.365

1 review Not set
Sources
  • Emory Genetics Laboratory

Red FOXH1 in Pituitary hormone deficiency

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.166

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Holoprosencephaly
  • No OMIM number

Red FOXH1 in Additional findings_Paediatric


Level 2: Screening
Version 0.279

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Congenital heart defects

Amber FOXH1 in Fetal anomalies


Version 1.489

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Expert list
Phenotypes
  • Congenital heart disease
  • holoprosencephaly

Red FOXH1 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.147

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital heart defects