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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