Holoprosencephaly

Gene: FOXH1

Red List (low evidence)

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

3 reviews

Louise Daugherty (Genomics England Curator)

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 29 Jul 2019, 2:15 p.m. | Last Modified: 29 Jul 2019, 2:15 p.m.
Panel Version: 1.20

Helen Brittain (Genomics England Curator)

Comment when marking as ready: I have not identified a clear pattern of mutation in humans causing holoprosencephaly. Studies in zebrafish suggest a role. However, further evidence is needed before use as a diagnostic grade gene.
Created: 31 May 2017, 11:58 a.m.
Comment on publications: Similarly, PTCH1, GAS1, TDGF1, CDON, FOXH1, NODAL, and SHH-regulating sequences LMBR1 and RBM33 showed no mutations held for diagnosis in the 257 cases sequenced. New case control studies need to be performed in larger cohorts to better evaluate their role and diagnosis potential in HPE.
Created: 30 May 2017, 4:18 p.m.

Lara Menzies (Great Ormond Street Hospital )

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Holoprosencephaly

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Holoprosencephaly
OMIM
603621
Clinvar variants
Variants in FOXH1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to FOXH1.

31 May 2017, Gel status: 1

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted to version one after review within the genomics England curation team.

31 May 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

30 May 2017, Gel status: 1

Set publications

Helen Brittain (Genomics England Curator)

Publications for FOXH1 were set to 27363716

9 Dec 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

FOXH1 was added to Holoprosencephalypanel. Sources: Illumina TruGenome Clinical Sequencing Services

9 Dec 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

FOXH1 was created by oniblock