| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital hypothyroidism v0.47 | CNTN6 | Bryony Thompson Marked gene: CNTN6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.47 | CNTN6 | Bryony Thompson Gene: cntn6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.47 | CNTN6 | Bryony Thompson Classified gene: CNTN6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.47 | CNTN6 | Bryony Thompson Gene: cntn6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.46 | CNTN6 |
Bryony Thompson gene: CNTN6 was added gene: CNTN6 was added to Congenital hypothyroidism. Sources: Literature Mode of inheritance for gene: CNTN6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNTN6 were set to 38183624 Phenotypes for gene: CNTN6 were set to congenital hypothyroidism MONDO:0018612 Review for gene: CNTN6 was set to AMBER Added comment: 2 probands with CH, 1 with a homozygous missense & 1 with compound het missense variants. Supporting in vitro functional assays. Sources: Literature |
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