| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hypogonadotropic hypogonadism v0.124 | TUBB3 | Chirag Patel Classified gene: TUBB3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.124 | TUBB3 | Chirag Patel Gene: tubb3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.123 | TUBB3 | Chirag Patel Marked gene: TUBB3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.123 | TUBB3 | Chirag Patel Gene: tubb3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.123 | TUBB3 |
Chirag Patel gene: TUBB3 was added gene: TUBB3 was added to Hypogonadotropic hypogonadism. Sources: Literature Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB3 were set to 34652576; 25559402 Phenotypes for gene: TUBB3 were set to TUBB3-related tubulinopathy, MONDO:0100154 Review for gene: TUBB3 was set to GREEN Added comment: PMID 34652576 reports 14 individuals from 13 unrelated families with the same heterozygous de novo TUBB3 rare missense variant (p.Arg262His) presenting with congenital fibrosis of the extraocular muscles (CFEOM3), facial weakness, distal contractures, early‑onset peripheral neuropathy, and Kallmann syndrome (hypogonadotropic hypogonadism with anosmia). Detailed phenotyping and functional assays show dominant altered‑function of the mutant tubulin. PMID 25559402 reports 4 affected individuals from 1 family (mother and 3 sons) with heterozygous TUBB3 rare missense variant (p.E410K) showing CFEOM, facial weakness, developmental delay, and variable endocrine abnormalities including hypogonadotropic hypogonadism, growth‑hormone deficiency and possible hypothyroidism. No functional data. Sources: Literature |
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