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BabyScreen+ newborn screening v1.114 TTC7A Tommy Li Added phenotypes Immunodeficiency, combined, with intestinal atresias, MIM#243150 for gene: TTC7A
Publications for gene TTC7A were updated from 30553809; 34975848; 33746097 to 34975848; 33746097; 30553809
BabyScreen+ newborn screening v0.1049 TTC7A Zornitza Stark Classified gene: TTC7A as Red List (low evidence)
BabyScreen+ newborn screening v0.1049 TTC7A Zornitza Stark Gene: ttc7a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1048 TTC7A Zornitza Stark Tag for review was removed from gene: TTC7A.
BabyScreen+ newborn screening v0.1048 TTC7A Zornitza Stark reviewed gene: TTC7A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome MIM#243150; Mode of inheritance: None
BabyScreen+ newborn screening v0.946 TTC7A Zornitza Stark Marked gene: TTC7A as ready
BabyScreen+ newborn screening v0.946 TTC7A Zornitza Stark Gene: ttc7a has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.946 TTC7A Zornitza Stark Publications for gene: TTC7A were set to
BabyScreen+ newborn screening v0.945 TTC7A Zornitza Stark Classified gene: TTC7A as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.945 TTC7A Zornitza Stark Gene: ttc7a has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.944 TTC7A Zornitza Stark Tag for review tag was added to gene: TTC7A.
BabyScreen+ newborn screening v0.890 TTC7A Lilian Downie reviewed gene: TTC7A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30553809, PMID: 34975848, PMID: 33746097; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome MIM#243150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 TTC7A Zornitza Stark gene: TTC7A was added
gene: TTC7A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC7A were set to Immunodeficiency, combined, with intestinal atresias, MIM#243150