| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital hypothyroidism v1.2 | SPEN | chirag patel Classified gene: SPEN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v1.2 | SPEN | chirag patel Gene: spen has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v1.1 | SPEN | chirag patel Marked gene: SPEN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v1.1 | SPEN | chirag patel Gene: spen has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v1.1 | SPEN |
chirag patel gene: SPEN was added gene: SPEN was added to Congenital hypothyroidism. Sources: Literature Mode of inheritance for gene: SPEN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPEN were set to 42192612 Phenotypes for gene: SPEN were set to Congenital hypothyroidism, MONDO:0018612, SPEN-related Review for gene: SPEN was set to AMBER Added comment: 3 individuals from 3 unrelated Chinese families with isolated congenital hypothyroidism. WES identified rare biallelic SPEN variants (p.N1856S, p.E2583Q, p.G2372R, p.P2240L, p.S2306del). They report all variants would be classified as VUS. Unaffected parents confirmed heterozygote carriers in 2 families. Zebrafish spen morpholino knockdown confirmed diminished thyroid hormone synthesis by showing thyroid hypoplasia, significant reductions in total thyroid follicle number, and marked decreases in number of hormone-producing units and T4 immunofluorescence intensity. Sources: Literature |
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| Congenital hypothyroidism v0.127 | chirag patel Added reviews for gene SPEN from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.126 | chirag patel Copied gene SPEN from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.126 | SPEN |
chirag patel gene: SPEN was added gene: SPEN was added to Congenital hypothyroidism. Sources: Expert Review Green,Literature Mode of inheritance for gene: SPEN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SPEN were set to 33057194; 33596411; 42192612 Phenotypes for gene: SPEN were set to Radio-Tartaglia syndrome, MIM# 619312; Congenital hypothyroidism, MONDO:0018612, SPEN-related |
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