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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 v1.114 CFD Tommy Li Added phenotypes Complement factor D deficiency, MIM# 613912 for gene: CFD
Publications for gene CFD were updated from 11457876; 16527897; 31440263 to 16527897; 11457876; 31440263
BabyScreen+ newborn screening v1.39 CFD Zornitza Stark Marked gene: CFD as ready
BabyScreen+ newborn screening v1.39 CFD Zornitza Stark Gene: cfd has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v1.39 CFD Zornitza Stark Phenotypes for gene: CFD were changed from Complement factor D deficiency, MIM# 613912; Complement factor D deficiency to Complement factor D deficiency, MIM# 613912
BabyScreen+ newborn screening v1.38 CFD Zornitza Stark Publications for gene: CFD were set to
BabyScreen+ newborn screening v1.37 CFD Zornitza Stark Classified gene: CFD as Green List (high evidence)
BabyScreen+ newborn screening v1.37 CFD Zornitza Stark Gene: cfd has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v1.36 CFD Zornitza Stark Tag treatable tag was added to gene: CFD.
Tag immunological tag was added to gene: CFD.
BabyScreen+ newborn screening v1.36 CFD Zornitza Stark reviewed gene: CFD: Rating: GREEN; Mode of pathogenicity: None; Publications: 11457876, 16527897, 31440263; Phenotypes: Complement factor D deficiency, MIM# 613912; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1958 VKORC1 Lilian Downie gene: VKORC1 was added
gene: VKORC1 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: VKORC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: VKORC1 were set to PMID:14765194, PMID: 26287237
Phenotypes for gene: VKORC1 were set to Vitamin K-dependent clotting factors, combined deficiency of, 2 MIM#607473
Review for gene: VKORC1 was set to AMBER
Added comment: Risk of intracranial haemmorhage in first weeks of life
Treatable with vitamin K
See below summary - feels like should be green for that homozygous mutation but not sure how to manage the gene overall? not report other variants?
Monoallelic - warfarin resistance

There is only one mutation known to result in the VKCFD2 phenotype. VKORC1:p.Arg98Trp causes diminished vitamin K epoxide reductase (VKOR) activity compared to that of the wild-type enzyme [15]. VKCFD2 patients exhibit severely diminished activities for the VKD coagulation factors and suffer spontaneous or surgery/injury induced bleeding episodes [16,17]. In addition to this haemorrhagic phenotype, abnormalities in epiphyseal growth have been reported in one case [18]. This phenotype is very rare. Worldwide, there are only four unrelated families known to be affected with VKCFD2 [16,17,18].
Sources: Expert list
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 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 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 CFD Zornitza Stark Source Expert Review Red was added to CFD.
Source BabySeq Category C gene was added to CFD.
Added phenotypes Complement factor D deficiency for gene: CFD
Rating Changed from Green List (high evidence) to Red List (low evidence)
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
BabyScreen+ newborn screening v0.0 CFD Zornitza Stark gene: CFD was added
gene: CFD was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: CFD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFD were set to Complement factor D deficiency, MIM# 613912