CCNQ Chromosome X
Cyclin Q
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What This Gene Does
Mutations in this gene have been shown to cause an X-linked dominant STAR syndrome that typically manifests syndactyly, telecanthus and anogenital and renal malformations. The protein encoded by this gene contains a cyclin-box-fold domain which suggests it may have a role in controlling nuclear cell division cycles. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
Cyclins
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000262919
Associated Conditions (1)
Syndactyly-telecanthus-anogenital and renal malformations syndrome
Key Variants
RS1057521251
Likely pathogenic
Health Risk
RS2148299424
Likely pathogenic
Syndactyly-telecanthus-anogenital and renal malformations syndrome, Syndactyly-telecanthus-anogenital and renal malformations syndrome
Health Risk
RS1569536789
Pathogenic
Syndactyly-telecanthus-anogenital and renal malformations syndrome, Syndactyly-telecanthus-anogenital and renal malformations syndrome
Health Risk
RS1569536891
Pathogenic
Syndactyly-telecanthus-anogenital and renal malformations syndrome, Syndactyly-telecanthus-anogenital and renal malformations syndrome
Health Risk
RS2090998416
Pathogenic
Health Risk
RS63749972
Pathogenic
Syndactyly-telecanthus-anogenital and renal malformations syndrome, Syndactyly-telecanthus-anogenital and renal malformations syndrome
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057521251 | Health Risk | Likely pathogenic | — |
| RS2148299424 | Health Risk | Likely pathogenic | Syndactyly-telecanthus-anogenital and renal malformations syndrome, Syndactyly-telecanthus-anogenital and renal malformations syndrome |
| RS1569536789 | Health Risk | Pathogenic | Syndactyly-telecanthus-anogenital and renal malformations syndrome, Syndactyly-telecanthus-anogenital and renal malformations syndrome |
| RS1569536891 | Health Risk | Pathogenic | Syndactyly-telecanthus-anogenital and renal malformations syndrome, Syndactyly-telecanthus-anogenital and renal malformations syndrome |
| RS2090998416 | Health Risk | Pathogenic | — |
| RS63749972 | Health Risk | Pathogenic | Syndactyly-telecanthus-anogenital and renal malformations syndrome, Syndactyly-telecanthus-anogenital and renal malformations syndrome |