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| BabyScreen+ newborn screening v0.1248 | IGSF1 |
Zornitza Stark Tag treatable tag was added to gene: IGSF1. Tag endocrine tag was added to gene: IGSF1. |
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| BabyScreen+ newborn screening v0.1248 | IGSF1 | Zornitza Stark Marked gene: IGSF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1248 | IGSF1 | Zornitza Stark Gene: igsf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1248 | IGSF1 | Zornitza Stark Phenotypes for gene: IGSF1 were changed from Central hypothyroidism and testicular enlargement to Hypothyroidism, central, and testicular enlargement, MIM# 300888 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1247 | IGSF1 | Zornitza Stark reviewed gene: IGSF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothyroidism, central, and testicular enlargement, MIM# 300888; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | IGSF1 |
Zornitza Stark gene: IGSF1 was added gene: IGSF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IGSF1 were set to Central hypothyroidism and testicular enlargement |
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