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| Craniosynostosis v1.18 | LTBP1 |
Chern Lim gene: LTBP1 was added gene: LTBP1 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LTBP1 were set to 33991472 Phenotypes for gene: LTBP1 were set to cutis laxa syndrome Review for gene: LTBP1 was set to GREEN gene: LTBP1 was marked as current diagnostic Added comment: PMID:33991472 - Premature truncating variants in multiple affected individuals from 4 unrelated consanguineous families. - Affected individuals present with connective tissue features (cutis laxa and inguinal hernia), craniofacial dysmorphology, variable heart defects, and prominent skeletal features (craniosynostosis, short stature, brachydactyly, and syndactyly). - Functional studies done on patient fibroblasts and zebrafish models. Sources: Literature |
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| Craniosynostosis v0.49 | BRAF | Tiong Tan Marked gene: BRAF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.49 | BRAF | Tiong Tan Gene: braf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.49 | BRAF | Tiong Tan Classified gene: BRAF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.49 | BRAF | Tiong Tan Gene: braf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.48 | BRAF |
Tiong Tan gene: BRAF was added gene: BRAF was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BRAF were set to 28650561 Phenotypes for gene: BRAF were set to CFC Penetrance for gene: BRAF were set to Complete Mode of pathogenicity for gene: BRAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: BRAF was set to GREEN Added comment: Four unrelated individuals with CFC and craniosynostosis Sources: Literature |
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| Craniosynostosis v0.24 | CYP26B1 |
Tiong Tan gene: CYP26B1 was added gene: CYP26B1 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: CYP26B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP26B1 were set to 27410456; 22019272 Phenotypes for gene: CYP26B1 were set to 614416 RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES Penetrance for gene: CYP26B1 were set to Complete Review for gene: CYP26B1 was set to GREEN Added comment: Three unrelated families in two publications, the first of which also demonstrated robust functional work in murine embryos, zebrafish and in vitro assays suggesting aberrant osteoblast-osteocyte transition. Sources: Literature |
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