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| Mendeliome v0.11194 | ERLEC1 | Bryony Thompson Marked gene: ERLEC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11194 | ERLEC1 | Bryony Thompson Gene: erlec1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11194 | ERLEC1 | Bryony Thompson Phenotypes for gene: ERLEC1 were changed from Class III malocclusion to autosomal dominant prognathism MONDO:0008312 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3625 | ERLEC1 | Bryony Thompson Classified gene: ERLEC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3625 | ERLEC1 | Bryony Thompson Gene: erlec1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3624 | ERLEC1 |
Bryony Thompson gene: ERLEC1 was added gene: ERLEC1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ERLEC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ERLEC1 were set to 32442352 Phenotypes for gene: ERLEC1 were set to Class III malocclusion Review for gene: ERLEC1 was set to GREEN Added comment: A heterozygous missense variant was found to co-segregate with dentofacial deformity in a multi-generational Chinese pedigree (2 unaffected carriers & 11 affected carriers), and 3 additional missense variants were identified in 3 unrelated cases from a sporadic malocclusion cohort. Additional functional assays were conducted to demonstrate that the proper level of ERLEC1 expression is crucial for proper osteogenic differentiation. All identified missense variants were assessed using luciferase reporter assays, and altered activity. Sources: Literature |
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