Haem degradation and bilirubin metabolism defects
Gene: FECHEnsemblGeneIds (GRCh38): ENSG00000066926
EnsemblGeneIds (GRCh37): ENSG00000066926
OMIM: 612386, Gene2Phenotype
FECH is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
- OMIM
- 612386
- Clinvar variants
- Variants in FECH
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fech has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FECH were set to
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.
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