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Newborns main panel

Gene: MCFD2

Amber List (moderate evidence)
MCFD2 (multiple coagulation factor deficiency 2)
EnsemblGeneIds (GRCh38): ENSG00000180398
EnsemblGeneIds (GRCh37): ENSG00000180398
OMIM: 607788, Gene2Phenotype
MCFD2 is in 3 panels

1 review

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
MCFD2 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
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Factor V and factor VIII, combined deficiency of
OMIM
607788
Clinvar variants
Variants in MCFD2
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to MCFD2. Added phenotypes Factor V and factor VIII, combined deficiency of for gene: MCFD2 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

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 MCFD2. Added phenotypes Factor V and factor VIII, combined deficiency of for gene: MCFD2 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 MCFD2. Added phenotypes Factor V and factor VIII, combined deficiency of for gene: MCFD2 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

9 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to MCFD2. Added phenotypes Factor V and factor VIII, combined deficiency of for gene: MCFD2 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: MCFD2 was added gene: MCFD2 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: MCFD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCFD2 were set to Factor V and factor VIII, combined deficiency of