| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Adrenal insufficiency v0.69 | C14orf80 | Chirag Patel Marked gene: C14orf80 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.69 | C14orf80 | Chirag Patel Gene: c14orf80 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.69 | C14orf80 | Chirag Patel Classified gene: C14orf80 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.69 | C14orf80 | Chirag Patel Gene: c14orf80 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.68 | C14orf80 |
Chirag Patel gene: C14orf80 was added gene: C14orf80 was added to Adrenal insufficiency. Sources: Literature Mode of inheritance for gene: C14orf80 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C14orf80 were set to 39979680; 38252227; 30842647 Phenotypes for gene: C14orf80 were set to Syndromic disease, MONDO:0002254 Review for gene: C14orf80 was set to RED Added comment: Adrenal insufficiency only reported in 2 male siblings from 1 non-consanguineous family with biallelic loss‑of‑function TEDC1 variants (c.104-5C>G and p.Ala263LeufsTer29). They also had prenatal‑onset severe growth impairment, primary microcephaly, primary hypogonadism, congenital glaucoma, craniosynostosis, tracheal stenosis and developmental delay. Functional studies demonstrate loss of TEDC1 protein, disrupted TEDC2 binding, cell‑cycle defects in patient lymphoblastoid cells, and recapitulation of growth and cranial phenotypes in a tedc1‑/‑ zebrafish model. Total of 5 individuals from 3 families reported with biallelic loss‑of‑function TEDC1 variants, presenting with developmental delay and microcephaly. Sources: Literature |
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