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| Skeletal dysplasia v0.443 | CWC27 | Zornitza Stark Marked gene: CWC27 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.443 | CWC27 | Zornitza Stark Gene: cwc27 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.443 | CWC27 | Zornitza Stark changed review comment from: Highly variable phenotype characterised by RP and brachydactyly. RP is slowly progressive, with night blindness occurring around 10 years of age (one individual reported with much more severe LCA phenotype). Additional features present in many individuals including frontal bossing, downslanting palpebral fissures, large columella, hypoplastic nares, micrognathia, and large low-set ears. Neurologic features included delays in speech, feeding, and walking, as well as intellectual disability (mild to moderate range). Congenital anomalies affecting heart/kidneys reported. Eight unrelated families reported.; to: Highly variable phenotype characterised by RP and metaphyseal chondrodysplasia, typically brachydactyly. RP is slowly progressive, with night blindness occurring around 10 years of age (one individual reported with much more severe LCA phenotype). Additional features present in many individuals including frontal bossing, downslanting palpebral fissures, large columella, hypoplastic nares, micrognathia, and large low-set ears. Neurologic features included delays in speech, feeding, and walking, as well as intellectual disability (mild to moderate range). Congenital anomalies affecting heart/kidneys reported. Eight unrelated families reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.443 | Zornitza Stark Copied gene CWC27 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.443 | CWC27 |
Zornitza Stark gene: CWC27 was added gene: CWC27 was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CWC27 were set to 28285769; 31481716 Phenotypes for gene: CWC27 were set to Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410 |
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