Haem degradation and bilirubin metabolism defects

Gene: FECH

Green List (high evidence)

FECH (ferrochelatase)
EnsemblGeneIds (GRCh38): ENSG00000066926
EnsemblGeneIds (GRCh37): ENSG00000066926
OMIM: 612386, Gene2Phenotype
FECH is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Although some of the literature refers to 'pseudo dominant' cases, evidence for dominant disease is limited. Please note there is a common, hypomorphic deep intronic variant, IVS3-48T-C, as well as an exon 10 deletion reported.
Created: 20 Mar 2020, 5:29 a.m. | Last Modified: 20 Mar 2020, 5:29 a.m.
Panel Version: 0.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Protoporphyria, erythropoietic, 1, MIM# 177000

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Protoporphyria, erythropoietic, autosomal recessive, 177000
Tags
SV/CNV deep intronic
OMIM
612386
Clinvar variants
Variants in FECH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fech has been classified as Green List (High Evidence).

25 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FECH were set to

20 Mar 2020, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: FECH. Tag deep intronic tag was added to gene: FECH.

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: FECH was added gene: FECH was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FECH were set to Protoporphyria, erythropoietic, autosomal recessive, 177000