Activity
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6 actions
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Prepair 1000+ v1.1099 | CEP78 | Zornitza Stark Marked gene: CEP78 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.1099 | CEP78 | Zornitza Stark Gene: cep78 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.1099 | CEP78 | Zornitza Stark Phenotypes for gene: CEP78 were changed from Cone-rod dystrophy and hearing loss, 617236 (3), Autosomal recessive to Cone-rod dystrophy and hearing loss, MIM#617236 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.1098 | CEP78 | Zornitza Stark Publications for gene: CEP78 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.992 | CEP78 | Michelle Torres reviewed gene: CEP78: Rating: GREEN; Mode of pathogenicity: None; Publications: 35240912; Phenotypes: Cone-rod dystrophy and hearing loss MIM#617236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v0.0 | CEP78 |
Zornitza Stark gene: CEP78 was added gene: CEP78 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP78 were set to Cone-rod dystrophy and hearing loss, 617236 (3), Autosomal recessive |