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  3. FTH1
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Fetal anomalies

Gene: FTH1

Amber List (moderate evidence)
FTH1 (ferritin heavy chain 1)
EnsemblGeneIds (GRCh38): ENSG00000167996
EnsemblGeneIds (GRCh37): ENSG00000167996
OMIM: 134770, Gene2Phenotype
FTH1 is in 3 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Beth Young (West Midlands Regional Genetics Laboratory)

I don't know

Progressive cerebral and cerebellar atrophy. Likely prenatal onset, but no reports of prenatal diagnosis. Hotspot in gene for variants (6 identified, 4 same variant; all presumed de novo).Green on Ataxia/cerebeallar anomalies panel.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodegeneration with brain iron accumulation-9, OMIM:620669; neurodegeneration with brain iron accumulation 9, MONDO:0958012

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Neurodegeneration with brain iron accumulation-9, OMIM:620669
  • neurodegeneration with brain iron accumulation 9, MONDO:0958012
OMIM
134770
Clinvar variants
Variants in FTH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ida Ertmanska (Genomics England Curator)

gene: FTH1 was added gene: FTH1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: FTH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FTH1 were set to 37660254; 41551370 Phenotypes for gene: FTH1 were set to Neurodegeneration with brain iron accumulation-9, OMIM:620669; neurodegeneration with brain iron accumulation 9, MONDO:0958012