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BabyScreen+ newborn screening v1.114 MCFD2 Tommy Li Added phenotypes Factor V and factor VIII, combined deficiency of, MIM# 613625 for gene: MCFD2
BabyScreen+ newborn screening v0.1865 MCFD2 Zornitza Stark Classified gene: MCFD2 as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.1865 MCFD2 Zornitza Stark Gene: mcfd2 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.1864 MCFD2 Zornitza Stark changed review comment from: Reviewed with Meg Wall, haematologist.
Treatable, including with prophylactic DDAVP, include.; to: Reviewed with Meg Wall, haematologist.
Treatable, including with prophylactic DDAVP; however, generally mild, therefore exclude.
BabyScreen+ newborn screening v0.1864 MCFD2 Zornitza Stark edited their review of gene: MCFD2: Changed rating: AMBER
BabyScreen+ newborn screening v0.1862 MCFD2 Zornitza Stark Marked gene: MCFD2 as ready
BabyScreen+ newborn screening v0.1862 MCFD2 Zornitza Stark Gene: mcfd2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1862 MCFD2 Zornitza Stark Tag for review was removed from gene: MCFD2.
Tag treatable tag was added to gene: MCFD2.
BabyScreen+ newborn screening v0.1862 MCFD2 Zornitza Stark reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor V and factor VIII, combined deficiency of, MIM# 613625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1710 MCFD2 Zornitza Stark Tag haematological tag was added to gene: MCFD2.
BabyScreen+ newborn screening v0.266 MCFD2 Zornitza Stark Phenotypes for gene: MCFD2 were changed from Factor V and Factor VIII deficiency, combined to Factor V and factor VIII, combined deficiency of, MIM# 613625
BabyScreen+ newborn screening v0.265 MCFD2 Zornitza Stark Tag for review tag was added to gene: MCFD2.
BabyScreen+ newborn screening v0.241 MCFD2 David Amor changed review comment from: Gene-disease association: strong but rare.

Onset: birth

Treatment: clotting factor supplementation, However only reported to cause mild-moderate bleeding tendency so consider excluding?; to: Gene-disease association: strong but rare.

Onset: birth

Treatment: clotting factor supplementation, However only reported to cause mild-moderate bleeding tendency so consider excluding?
BabyScreen+ newborn screening v0.241 MCFD2 David Amor reviewed gene: MCFD2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Combine FV and FVIII deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 MCFD2 Zornitza Stark gene: MCFD2 was added
gene: MCFD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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 deficiency, combined