| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital hypothyroidism v0.90 | HIST1H1E | Chirag Patel Marked gene: HIST1H1E as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.90 | HIST1H1E | Chirag Patel Gene: hist1h1e has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.90 | HIST1H1E |
Chirag Patel gene: HIST1H1E was added gene: HIST1H1E was added to Congenital hypothyroidism. Sources: Literature Mode of inheritance for gene: HIST1H1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HIST1H1E were set to 40444808; 34290007 Phenotypes for gene: HIST1H1E were set to Rahman syndrome, MIM# 617537 Review for gene: HIST1H1E was set to RED Added comment: Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth. Some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. More than 40 unrelated individuals reported. PTVs result in the same shift in frame and that cluster to a 94-base pair region in the HIST1H1E carboxy terminal domain. PMID 34290007 and 40444808 report 2 unrelated individuals with Rahman syndrome with central hypothyroidism. Sources: Literature |
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