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| Deafness_IsolatedAndComplex v0.584 | CEP250 | Zornitza Stark Marked gene: CEP250 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.584 | CEP250 | Zornitza Stark Gene: cep250 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.584 | CEP250 | Zornitza Stark Classified gene: CEP250 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.584 | CEP250 | Zornitza Stark Gene: cep250 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.583 | CEP250 |
Zornitza Stark gene: CEP250 was added gene: CEP250 was added to Deafness_IsolatedAndComplex. Sources: Expert list Mode of inheritance for gene: CEP250 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP250 were set to 24780881; 29718797; 30459346 Phenotypes for gene: CEP250 were set to Cone-rod dystrophy and hearing loss 2, MIM# 618358 Review for gene: CEP250 was set to GREEN Added comment: Cone-rod dystrophy and hearing loss-2 (CRDHL2) is characterized by retinal dystrophy, with photophobia and progressive reduction in visual acuity, associated with sensorineural hearing loss. Three unrelated families reported. Sources: Expert list |
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