Activity
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6 actions
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| Deafness_IsolatedAndComplex v0.124 | CEP78 | Zornitza Stark Marked gene: CEP78 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.124 | CEP78 | Zornitza Stark Gene: cep78 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.124 | CEP78 | Zornitza Stark Phenotypes for gene: CEP78 were changed from Cone-rod dystrophy and hearing loss to Cone-rod dystrophy and hearing loss, MIM#617236 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.123 | CEP78 | Zornitza Stark Classified gene: CEP78 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.123 | CEP78 | Zornitza Stark Gene: cep78 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.41 | CEP78 |
Lilian Downie gene: CEP78 was added gene: CEP78 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP78 were set to 28005958; 27588451; 27588452; 27627988 Phenotypes for gene: CEP78 were set to Cone-rod dystrophy and hearing loss Review for gene: CEP78 was set to GREEN Added comment: Classified as 'Strong'by ClinGen hearing loss expert panel. Atypical Usher phenotype. Sources: Expert list |
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