| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Adrenal insufficiency v0.65 | GFER | Chirag Patel Marked gene: GFER as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.65 | GFER | Chirag Patel Gene: gfer has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.65 | GFER |
Chirag Patel gene: GFER was added gene: GFER was added to Adrenal insufficiency. Sources: Literature Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFER were set to 26018198 Phenotypes for gene: GFER were set to Mitochondrial disease, MONDO:0044970 Review for gene: GFER was set to RED Added comment: ClinGen DEFINITIVE association with disease (Sep'23). Only 1 patient aged 19 years reported with infancy onset adrenal insufficiency. Sources: Literature |
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