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Genomic newborn screening: BabyScreen+ v0.1602 POLH Zornitza Stark Marked gene: POLH as ready
Genomic newborn screening: BabyScreen+ v0.1602 POLH Zornitza Stark Gene: polh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1602 POLH Zornitza Stark Phenotypes for gene: POLH were changed from Xeroderma pigmentosum to Xeroderma pigmentosum, variant type, MIM# 278750
Genomic newborn screening: BabyScreen+ v0.1601 POLH Zornitza Stark Classified gene: POLH as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1601 POLH Zornitza Stark Gene: polh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1600 POLH Zornitza Stark reviewed gene: POLH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, variant type, MIM# 278750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.0 POLH Zornitza Stark gene: POLH was added
gene: POLH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: POLH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLH were set to Xeroderma pigmentosum