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BabyScreen+ newborn screening v1.114 | CDCA8 | Tommy Li Added phenotypes Congenital hypothyroidism, MONDO:0018612, CDCA8-related for gene: CDCA8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.2110 | CDCA8 | Zornitza Stark Marked gene: CDCA8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.2110 | CDCA8 | Zornitza Stark Gene: cdca8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.2110 | CDCA8 | Zornitza Stark Classified gene: CDCA8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.2110 | CDCA8 | Zornitza Stark Gene: cdca8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.2109 | CDCA8 |
Zornitza Stark gene: CDCA8 was added gene: CDCA8 was added to Baby Screen+ newborn screening. Sources: Expert list treatable, endocrine tags were added to gene: CDCA8. Mode of inheritance for gene: CDCA8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CDCA8 were set to 28025328; 29546359 Phenotypes for gene: CDCA8 were set to Congenital hypothyroidism, MONDO:0018612, CDCA8-related Review for gene: CDCA8 was set to GREEN Added comment: 4 families (1 with bilallelic variants [parent affected as HTZ], 3 with monoallelic variants) with functional evidence of variants. Treatment: thyroxine Likely to be detected on standard NBS. Sources: Expert list |