| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hypertrichosis syndromes v0.46 | KCNN3 | Elena Savva Classified gene: KCNN3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrichosis syndromes v0.46 | KCNN3 | Elena Savva Gene: kcnn3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrichosis syndromes v0.45 | KCNN3 | Elena Savva Marked gene: KCNN3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrichosis syndromes v0.45 | KCNN3 | Elena Savva Gene: kcnn3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrichosis syndromes v0.45 | KCNN3 |
Elena Savva gene: KCNN3 was added gene: KCNN3 was added to Hypertrichosis syndromes. Sources: Literature Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNN3 were set to 34907639 Phenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome 3 MIM#618658 Review for gene: KCNN3 was set to AMBER Added comment: PMID: 34907639 - literature review of previous ZLS patients, describes hypertrichosis as mild/moderate on trunk and limbs (3/7), or synophrys (4/7) in all patients Sources: Literature |
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