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| Skeletal dysplasia v2.9 | SOX9 |
Eleanor Williams commented on gene: SOX9: ESHG2020 - Poster E-PO1.34 Ledig et al Report a case of two sisters, 46XY, who are homozygous for a variant, c.1518C>G p.(Leu506Val), in SOX9. The sisters had a suspicion of non-syndromic XY DSD (disorder of sexual development) and no signs of skeletal malformations. By luciferase assay the variant reporte dhereshowed no decrease of transactivating function on Col2a1 promotor in contrast to two SOX9 mutations (c.347C>T p.(Ala116Val) and c.358C>T p.(Arg120Cys)) known to be associated with CD. The authors suggest that SOX9 variant c.1518C>G p.(Leu506Val) is a hypomorphic mutation that causes XY DSD without raising any SOX9 related skeletal phenotype. No publication relating to this work could be found in PubMed at this time. |
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| Skeletal dysplasia v1.153 | SOX9 | Eleanor Williams Added phenotypes Campomelic dysplasia with autosomal sex reversal 114290; Acampomelic campomelic dysplasia 114290; Campomelic dysplasia 114290 for gene: SOX9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | SOX9 | Tracy Lester reviewed gene: SOX9: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Acampomelic campomelic dysplasia 114290, Campomelic dysplasia 114290, Campomelic dysplasia with autosomal sex reversal 114290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | SOX9 | Eleanor Williams reviewed gene: SOX9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | SOX9 |
Eleanor Williams Source NHS GMS was added to SOX9. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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