Inherited bleeding disorders
Gene: MCFD2
MCFD2 (multiple coagulation factor deficiency 2)
EnsemblGeneIds (GRCh38): ENSG00000180398
EnsemblGeneIds (GRCh37): ENSG00000180398
OMIM: 607788, Gene2Phenotype
MCFD2 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000180398
EnsemblGeneIds (GRCh37): ENSG00000180398
OMIM: 607788, Gene2Phenotype
MCFD2 is in 3 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined factor V and VIII deficiency
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined factor V and VIII deficiency
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- BRIDGE Study Tier 1 Gene
- Phenotypes
-
- Combined factor V and VIII deficiency
- OMIM
- 607788
- Clinvar variants
- Variants in MCFD2
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
19 Dec 2016, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
19 Dec 2016, Gel status: 4
Added New Source
Louise Daugherty (Genomics England Curator)MCFD2 was added to Inherited bleeding disorderspanel. Source: Expert Review Green
9 Sep 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)MCFD2 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene
9 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)MCFD2 was created by ellenmcdonagh