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  2. Bleeding and Platelet Disorders
  3. MCFD2
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Bleeding and Platelet Disorders

Gene: MCFD2

Green List (high evidence)
MCFD2 (multiple coagulation factor deficiency 2)
EnsemblGeneIds (GRCh38): ENSG00000180398
EnsemblGeneIds (GRCh37): ENSG00000180398
OMIM: 607788, Gene2Phenotype
MCFD2 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 4 Jun 2021, 1:35 a.m. | Last Modified: 4 Jun 2021, 1:35 a.m.
Panel Version: 0.291

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Factor V and factor VIII, combined deficiency of, MIM# 613625; MONDO:0013331

Publications

Created: 4 Jun 2021, 1:35 a.m.
Last Modified: 4 Jun 2021, 1:35 a.m.
Panel version: 0.291

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Factor V and factor VIII, combined deficiency of, MIM# 613625
  • MONDO:0013331
OMIM
607788
Clinvar variants
Variants in MCFD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mcfd2 has been classified as Green List (High Evidence).

4 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MCFD2 were changed from to Factor V and factor VIII, combined deficiency of, MIM# 613625; MONDO:0013331

4 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MCFD2 were set to

4 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MCFD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MCFD2 was added gene: MCFD2 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MCFD2 was set to Unknown