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BabyScreen+ newborn screening v1.114 RNPC3 Tommy Li Added phenotypes Pituitary hormone deficiency, combined or isolated, 7, MIM# 618160 for gene: RNPC3
Publications for gene RNPC3 were updated from 29866761; 32462814; 33650182 to 33650182; 29866761; 32462814
BabyScreen+ newborn screening v0.2052 RNPC3 Zornitza Stark Marked gene: RNPC3 as ready
BabyScreen+ newborn screening v0.2052 RNPC3 Zornitza Stark Gene: rnpc3 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.2052 RNPC3 Zornitza Stark Classified gene: RNPC3 as Green List (high evidence)
BabyScreen+ newborn screening v0.2052 RNPC3 Zornitza Stark Gene: rnpc3 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.2051 RNPC3 Zornitza Stark gene: RNPC3 was added
gene: RNPC3 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, endocrine tags were added to gene: RNPC3.
Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNPC3 were set to 29866761; 32462814; 33650182
Phenotypes for gene: RNPC3 were set to Pituitary hormone deficiency, combined or isolated, 7, MIM# 618160
Review for gene: RNPC3 was set to GREEN
Added comment: Three unrelated individuals reported with combined and isolated pituitary hormone deficiencies, including GH and TSH.

Onset: congenital.

Treatment: GH, thyroxine.

Non-genetic confirmatory testing: hormone levels.
Sources: Expert list