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Newborns main panel

Gene: FECH

Green List (high evidence)
FECH (ferrochelatase)
EnsemblGeneIds (GRCh38): ENSG00000066926
EnsemblGeneIds (GRCh37): ENSG00000066926
OMIM: 612386, Gene2Phenotype
FECH is in 9 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Internal inclusion list, LOF algorithm plus ClinVar/QIAGEN/CVA
Created: 26 Sep 2024, 12:44 p.m. | Last Modified: 25 Oct 2024, 10:43 a.m.
Panel Version: 0.469
Special Consideration: Awareness.

Additional Information: In about 96% of cases an affected individual inherits a loss-of-function FECH allele from one parent and a low-expression FECH allele from the other parent. The common low expression allele is c.315-48T>C. In about 4% of cases, an affected individual has two loss-of-function FECH alleles. Consider MDT if biallelic missense variants are identified.
Created: 26 Sep 2024, 12:44 p.m. | Last Modified: 26 Sep 2024, 12:44 p.m.
Panel Version: 0.469
Created: 26 Sep 2024, 12:44 p.m.
Last Modified: 25 Oct 2024, 10:43 a.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
FECH curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
In about 96% of cases an affected individual inherits aloss-of-functionFECHallelefrom one parent and a low-expressionFECHallele from the other parent. In about 4% of cases, an affected individual has two loss-of-functionFECHalleles.
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.
Panel Version: 0.133
Created: 1 Jun 2023, 12:20 p.m.
Last Modified: 1 Jun 2023, 12:20 p.m.
Panel version: 0.137

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: FECH.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Protoporphyria, erythropoietic, 1 for gene: FECH

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to FECH. Added phenotypes Protoporphyria, erythropoietic, 1 for gene: FECH Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to FECH. Added phenotypes Protoporphyria, erythropoietic, 1 for gene: FECH Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to FECH. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Protoporphyria, erythropoietic, 1 for gene: FECH

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: FECH was added gene: FECH was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal