PanelApp (stage)
  1. Genes and Genomic Entities
  2. FTH1

FTH1

ferritin heavy chain 1
OMIM: 134770, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green FTH1 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.65

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodegeneration with brain iron accumulation 9, MIM# 620669

Green FTH1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hemochromatosis, type 5, MIM# 615517
  • Neurodegeneration with brain iron accumulation 9, MIM# 620669

Green FTH1 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.556

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodegeneration with brain iron accumulation 9, MIM# 620669

Green FTH1 in Neurodegeneration with brain iron accumulation


Level 2: Neurology and neurodevelopmental disorders
Version 0.35

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodegeneration with brain iron accumulation 9, MIM# 620669

    Red FTH1 in Metal Metabolism Disorders


    Level 2: Metabolic disorders
    Version 0.45

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • NHS Genomic Medicine Service
    • Genomics England PanelApp
    Phenotypes
    • Hemochromatosis, type 5, MIM# 615517
    Tags
    • 5'UTR