Bone Marrow Failure
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)
Primary presentation is with photosensitivity, and anaemia is haemolytic. Gene is already appropriately included in the Photosensitivity and Porphyria panels.Created: 13 Sep 2020, 11:47 p.m. | Last Modified: 13 Sep 2020, 11:47 p.m.
Panel Version: 0.91
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Protoporphyria, erythropoietic, 1, MIM# 177000
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Protoporphyria, erythropoietic, 1, MIM# 177000
- OMIM
- 612386
- Clinvar variants
- Variants in FECH
- Penetrance
- None
- 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 Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FECH were changed from to Protoporphyria, erythropoietic, 1, MIM# 177000
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: FECH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fech has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FECH was added gene: FECH was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FECH was set to Unknown