| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Adrenal insufficiency v0.55 | POLE | Chirag Patel Marked gene: POLE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.55 | POLE | Chirag Patel Gene: pole has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.55 | POLE | Chirag Patel Classified gene: POLE as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.55 | POLE | Chirag Patel Gene: pole has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.54 | POLE |
Chirag Patel gene: POLE was added gene: POLE was added to Adrenal insufficiency. Sources: Literature Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLE were set to 30503519 Phenotypes for gene: POLE were set to IMAGE-I syndrome, MONDO:0032684 Review for gene: POLE was set to GREEN Added comment: IMAGEI is an autosomal recessive disorder characterized by intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency. 15 individuals from 12 families reported with a recurrent intronic variant (c.1686+32C-G, intron 15) found in combination with multiple other variants. Sources: Literature |
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