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Metal Metabolism Disorders

Gene: FTH1

Red List (low evidence)
FTH1 (ferritin heavy chain 1)
EnsemblGeneIds (GRCh38): ENSG00000167996
EnsemblGeneIds (GRCh37): ENSG00000167996
OMIM: 134770, Gene2Phenotype
FTH1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

One multi-generational family with 5' UTR variant.
Created: 22 Jan 2021, 7:41 a.m. | Last Modified: 22 Jan 2021, 7:41 a.m.
Panel Version: 0.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hemochromatosis, type 5, MIM# 615517

Publications

Created: 22 Jan 2021, 7:41 a.m.
Last Modified: 22 Jan 2021, 7:41 a.m.
Panel version: 0.4

Details

Mode of Inheritance
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
OMIM
134770
Clinvar variants
Variants in FTH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jan 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fth1 has been classified as Red List (Low Evidence).

22 Jan 2021, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag 5'UTR tag was added to gene: FTH1.

22 Jan 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FTH1 were changed from 615517 HEMOCHROMATOSIS, TYPE 5; HFE5; 615517 ?Hemochromatosis, type 5 to Hemochromatosis, type 5, MIM# 615517

22 Jan 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fth1 has been classified as Red List (Low Evidence).

22 Jan 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FTH1 was added gene: FTH1 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Amber,NHS Genomic Medicine Service Mode of inheritance for gene: FTH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FTH1 were set to 11389486 Phenotypes for gene: FTH1 were set to 615517 HEMOCHROMATOSIS, TYPE 5; HFE5; 615517 ?Hemochromatosis, type 5