| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v2.0 | SOX7 | Gene migrated from ENSG00000171056 to ENSG00000171056 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5010 | SOX7 | Bryony Thompson Marked gene: SOX7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5010 | SOX7 | Bryony Thompson Gene: sox7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5010 | SOX7 | Bryony Thompson Classified gene: SOX7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5010 | SOX7 | Bryony Thompson Added comment: Comment on list classification: ClinGen CHD GCEP Limited Classification - 01/10/2024 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5010 | SOX7 | Bryony Thompson Gene: sox7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5009 | SOX7 |
Bryony Thompson gene: SOX7 was added gene: SOX7 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SOX7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOX7 were set to 35260939; 33720353; 33846290; 35422912; 37406974 Phenotypes for gene: SOX7 were set to congenital heart disease, MONDO:0005453 Review for gene: SOX7 was set to GREEN Added comment: Across all studies, nine unrelated families (16 cases) with SOX7 variants (8 missense & 1 stopgain). Some of the variants are present in gnomAD v4 but not at frequencies higher than expected for an AD condition. In vitro functional assays and mouse model supporting a monoallelic loss‑of‑function mechanism for non‑syndromic congenital heart disease. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||