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| BabyScreen+ newborn screening v0.2119 | TUBB1 | Zornitza Stark Marked gene: TUBB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2119 | TUBB1 | Zornitza Stark Gene: tubb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2119 | TUBB1 | Zornitza Stark Classified gene: TUBB1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2119 | TUBB1 | Zornitza Stark Gene: tubb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2118 | TUBB1 |
Zornitza Stark Tag treatable tag was added to gene: TUBB1. Tag endocrine tag was added to gene: TUBB1. |
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| BabyScreen+ newborn screening v0.2118 | TUBB1 |
Zornitza Stark gene: TUBB1 was added gene: TUBB1 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: TUBB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBB1 were set to 30446499 Phenotypes for gene: TUBB1 were set to Congenital hypothyroidism, MONDO:0018612, TUBB1-related; Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM # 613112 Review for gene: TUBB1 was set to GREEN Added comment: At least 3 families reported with congenital hypothyroidism associated with TUBB1 variants. Platelet abnormalities reported. Treatment: thyroxine. Non-genetic confirmatory testing: TFTs, blood film. Sources: Expert list |
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