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| Congenital hypothyroidism v0.43 | TUBB1 |
Zornitza Stark changed review comment from: Comment when marking as ready: Green for mono allelic variants, limited evidence for bi-allelic variants.; to: Comment when marking as ready: Green for mono allelic variants, limited evidence for bi-allelic variants. Congenital hypothyroidism in some. |
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| Congenital hypothyroidism v0.21 | TUBB1 | Zornitza Stark Marked gene: TUBB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.21 | TUBB1 | Zornitza Stark Added comment: Comment when marking as ready: Green for mono allelic variants, limited evidence for bi-allelic variants. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.21 | TUBB1 | Zornitza Stark Gene: tubb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.21 | TUBB1 | Zornitza Stark Phenotypes for gene: TUBB1 were changed from Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets to Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM # 613112; Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.20 | TUBB1 | Zornitza Stark Publications for gene: TUBB1 were set to 30446499 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.10 | TUBB1 | Chirag Patel Classified gene: TUBB1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.10 | TUBB1 | Chirag Patel Gene: tubb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.9 | TUBB1 | Chirag Patel reviewed gene: TUBB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30446499, 31642429; Phenotypes: Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM # 613112; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.0 | TUBB1 |
Zornitza Stark gene: TUBB1 was added gene: TUBB1 was added to Congenital hypothyroidism. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TUBB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TUBB1 were set to 30446499 Phenotypes for gene: TUBB1 were set to Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets |
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