Activity

Filter

Cancel
Date Panel Item Activity
12 actions
Genomic newborn screening: BabyScreen+ v0.1679 COL11A2 Zornitza Stark Tag deafness tag was added to gene: COL11A2.
Genomic newborn screening: BabyScreen+ v0.686 COL11A2 Zornitza Stark Classified gene: COL11A2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.686 COL11A2 Zornitza Stark Gene: col11a2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.685 COL11A2 Zornitza Stark edited their review of gene: COL11A2: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.685 COL11A2 Zornitza Stark Marked gene: COL11A2 as ready
Genomic newborn screening: BabyScreen+ v0.685 COL11A2 Zornitza Stark Gene: col11a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.685 COL11A2 Zornitza Stark Phenotypes for gene: COL11A2 were changed from Otospondylomegaepiphyseal dysplasia to Deafness, autosomal recessive 53, MIM# 609706
Genomic newborn screening: BabyScreen+ v0.684 COL11A2 Zornitza Stark Mode of inheritance for gene: COL11A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.683 COL11A2 Zornitza Stark Classified gene: COL11A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.683 COL11A2 Zornitza Stark Gene: col11a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.682 COL11A2 Zornitza Stark reviewed gene: COL11A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 53, MIM# 609706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.0 COL11A2 Zornitza Stark gene: COL11A2 was added
gene: COL11A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: COL11A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL11A2 were set to Otospondylomegaepiphyseal dysplasia