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| Clefting disorders v0.316 | ISCA-46303-Loss |
Sarah Milton changed review comment from: Deletion of the upstream enhancer of SOX9 has been shown to be associated with Pierre Robin syndrome in a number of affected individuals and this region has been curated by Clingen to be HI3. Coordinates were based on the largest region found in affected individuals. It should be noted deletions of upstream enhancer elements of SOX9 of different sizes have also been associated with male to female sex reversal. Exact coordinates and critical regions are still being defined in the literature. Sources: ClinGen; to: Deletion of the upstream enhancer of SOX9 has been shown to be associated with Pierre Robin syndrome in a number of affected individuals and this region has been curated by Clingen to be HI3. Coordinates were based on the largest region found in affected individuals. It should be noted deletions of upstream enhancer elements of SOX9 of different sizes have also been associated with male to female sex reversal. Incomplete penetrance has been noted with approx 75% of individuals with deletions in this region demonstrating a 46,XY sex reversal phenotype ranging from ambiguous genitalia to typical female external genitalia. Sources: ClinGen |
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| Clefting disorders v0.0 | STIL |
Zornitza Stark gene: STIL was added gene: STIL was added to Clefting_GEL. Sources: Expert Review Red Mode of inheritance for gene: STIL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STIL were set to MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE; MCPH7 |
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