1. Genes and Genomic Entities
  2. FTH1

FTH1

ferritin heavy chain 1
OMIM: 134770, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber FTH1 in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.63
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • London South GLH
    • Yorkshire and North East GLH
    • Expert Review Amber
    • NHS GMS
    • North West GLH
    Phenotypes
    • Neurodegeneration with brain iron accumulation 9, OMIM:620669
    • ?Hemochromatosis, type 5 OMIM:615517
    • hemochromatosis type 5 MONDO:0014225
    Tags
    • Q1_25_ NHS_review
    • Q1_25_ promote_green
    Amber FTH1 in Iron metabolism disorders - NOT common HFE mutations


    Level 2: Haematology
    Version 3.4
    Latest signed off version: v3.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • North West GLH
    • Yorkshire and North East GLH
    • London South GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Neurodegeneration with brain iron accumulation 9, OMIM:620669
    • ?Hemochromatosis, type 5 OMIM:615517
    • hemochromatosis type 5 MONDO:0014225