| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.4397 | ELP4 | Bryony Thompson Marked gene: ELP4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4397 | ELP4 | Bryony Thompson Gene: elp4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4397 | ELP4 | Bryony Thompson Classified gene: ELP4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4397 | ELP4 | Bryony Thompson Gene: elp4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4396 | ELP4 |
Bryony Thompson gene: ELP4 was added gene: ELP4 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ELP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ELP4 were set to 24290376; 17679951; 22991255; 26010655 Phenotypes for gene: ELP4 were set to ocular dysgenesis caused by defects in PAX6 regulation MONDO:0700246 Mode of pathogenicity for gene: ELP4 was set to Other Review for gene: ELP4 was set to GREEN Added comment: At least 5 families/cases reported with ocular dysgenesis. The mechanism of disease appears to be monoallelic disruption of enhancer elements located in the introns of ELP4 but required for efficient PAX6 transactivation during ocular development through a feed-forward mechanism mediated by binding of the PAX6 transcription factor Sources: Literature |
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