| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Adrenal insufficiency v0.64 | HSD17B4 | Chirag Patel Marked gene: HSD17B4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.64 | HSD17B4 | Chirag Patel Gene: hsd17b4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.64 | HSD17B4 | Chirag Patel Classified gene: HSD17B4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.64 | HSD17B4 | Chirag Patel Gene: hsd17b4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.63 | HSD17B4 |
Chirag Patel gene: HSD17B4 was added gene: HSD17B4 was added to Adrenal insufficiency. Sources: Literature,ClinGen Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSD17B4 were set to 40416444; 32904102; 32528852 Phenotypes for gene: HSD17B4 were set to d-bifunctional protein deficiency, MONDO:0009855 Review for gene: HSD17B4 was set to GREEN Added comment: ClinGen DEFINITIVE association with disease (Apr 2020). Adrenal insufficiency reported in 5 individuals from 3 unrelated families with D‑bifunctional protein deficiency due to biallelic loss‑of‑function HSD17B4 variants. Sources: Literature, ClinGen |
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