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BabyScreen+ newborn screening v1.114 MAT1A Tommy Li Added phenotypes Methionine adenosyltransferase deficiency MIM#250850 for gene: MAT1A
BabyScreen+ newborn screening v0.1898 MAT1A Zornitza Stark Marked gene: MAT1A as ready
BabyScreen+ newborn screening v0.1898 MAT1A Zornitza Stark Gene: mat1a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1898 MAT1A Zornitza Stark Mode of inheritance for gene: MAT1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1897 MAT1A Zornitza Stark Phenotypes for gene: MAT1A were changed from Methionine adenosyltransferase deficiency to Methionine adenosyltransferase deficiency MIM#250850
BabyScreen+ newborn screening v0.1872 MAT1A Lilian Downie reviewed gene: MAT1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Methionine adenosyltransferase deficiency MIM#250850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 MAT1A Zornitza Stark gene: MAT1A was added
gene: MAT1A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAT1A were set to Methionine adenosyltransferase deficiency