| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital hypothyroidism v0.104 | NSD1 | Chirag Patel Marked gene: NSD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.104 | NSD1 | Chirag Patel Gene: nsd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.104 | NSD1 | Chirag Patel Classified gene: NSD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.104 | NSD1 | Chirag Patel Gene: nsd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.103 | NSD1 |
Chirag Patel gene: NSD1 was added gene: NSD1 was added to Congenital hypothyroidism. Sources: Literature Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NSD1 were set to 41024235; 34350334; 15942875 Phenotypes for gene: NSD1 were set to Sotos syndrome, MONDO:0019349 Review for gene: NSD1 was set to AMBER Added comment: 3 individuals with Sotos syndrome and heterozygous loss‑of‑function NSD1 variants, with permanent congenital hypothyroidism. Congenital hypothyroidism in Sotos syndrome may be an underreported feature. Sources: Literature |
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