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Genomic newborn screening: BabyScreen+ v0.284 MCOLN1 Zornitza Stark Marked gene: MCOLN1 as ready
Genomic newborn screening: BabyScreen+ v0.284 MCOLN1 Zornitza Stark Gene: mcoln1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.284 MCOLN1 Zornitza Stark Phenotypes for gene: MCOLN1 were changed from Mucolipidosis IV to Mucolipidosis IV, MIM# 252650
Genomic newborn screening: BabyScreen+ v0.283 MCOLN1 Zornitza Stark Classified gene: MCOLN1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.283 MCOLN1 Zornitza Stark Gene: mcoln1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.248 MCOLN1 David Amor reviewed gene: MCOLN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis IV; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.0 MCOLN1 Zornitza Stark gene: MCOLN1 was added
gene: MCOLN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCOLN1 were set to Mucolipidosis IV