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  2. Familial non syndromic congenital heart disease
  3. FOXH1
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Familial non syndromic congenital heart disease

Gene: FOXH1

Red List (low evidence)
FOXH1 (forkhead box H1)
EnsemblGeneIds (GRCh38): ENSG00000160973
EnsemblGeneIds (GRCh37): ENSG00000160973
OMIM: 603621, Gene2Phenotype
FOXH1 is in 9 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Not recognised on G2P. Only one or two mutations identified in the medical literature
Created: 30 Nov 2016, 10:27 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Venticular septal defect, transposition of the great arteries

Publications

Created: 30 Nov 2016, 10:27 a.m.

Panel version: 0.15

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Venticular septal defect, transposition of the great arteries
OMIM
603621
Clinvar variants
Variants in FOXH1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January

30 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

30 Nov 2016, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

FOXH1 was added to Familial non syndromic congenital heart diseasepanel. Sources: Literature

30 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

FOXH1 was created by agardham