| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.4362 | SSX1 | Bryony Thompson Marked gene: SSX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4362 | SSX1 | Bryony Thompson Gene: ssx1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4362 | SSX1 | Bryony Thompson Classified gene: SSX1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4362 | SSX1 | Bryony Thompson Gene: ssx1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4361 | SSX1 |
Bryony Thompson gene: SSX1 was added gene: SSX1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SSX1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SSX1 were set to 36796361 Phenotypes for gene: SSX1 were set to spermatogenic failure, X-linked, 5 MONDO:085947 Review for gene: SSX1 was set to GREEN Added comment: At least 6 unrelated men with hemizygous variants and a supporting mouse model. Sources: Literature |
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