Bone Marrow Failure

Gene: FECH

Red List (low 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)

Red List (low evidence)

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

13 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Sep 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FECH were changed from to Protoporphyria, erythropoietic, 1, MIM# 177000

13 Sep 2020, Gel status: 1

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

13 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

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