| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital hypothyroidism v0.87 | MAMLD1 | Chirag Patel Marked gene: MAMLD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.87 | MAMLD1 | Chirag Patel Gene: mamld1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.87 | MAMLD1 |
Chirag Patel gene: MAMLD1 was added gene: MAMLD1 was added to Congenital hypothyroidism. Sources: Literature Mode of inheritance for gene: MAMLD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: MAMLD1 were set to 36898841 Phenotypes for gene: MAMLD1 were set to Congenital hypothyroidism MONDO:0018612 Review for gene: MAMLD1 was set to RED Added comment: PMID 36898841 reports 2 individuals from 2 unrelated South East Asian families with hemizygous X‑linked MAMLD1 variants presenting with congenital hypothyroidism due to dyshormonogenesis. Both patients have early‑onset hypothyroidism (30 days and 15 years). Functional assays show gain‑of‑function effects on non‑canonical Notch signalling, increasing HES3 expression and suppressing HES1‑dependent thyroid hormone biosynthesis genes. However, the non‑frameshift duplication p.Q477dup was maternally inherited and has a relatively high allele frequency in East Asian populations (0.54 %), and the in silico predictions for the de novo missense p.C942Y variant are benign. Sources: Literature |
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