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Usher Syndrome v0.23 CEP250 Zornitza Stark Marked gene: CEP250 as ready
Usher Syndrome v0.23 CEP250 Zornitza Stark Gene: cep250 has been classified as Green List (High Evidence).
Usher Syndrome v0.23 CEP250 Zornitza Stark Publications for gene: CEP250 were set to
Usher Syndrome v0.22 CEP250 Zornitza Stark reviewed gene: CEP250: Rating: GREEN; Mode of pathogenicity: None; Publications: 24780881, 29718797, 30459346; Phenotypes: Cone-rod dystrophy and hearing loss 2, MIM# 618358; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Usher Syndrome v0.0 CEP250 Bryony Thompson gene: CEP250 was added
gene: CEP250 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CEP250 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP250 were set to Usher-like disease; Cone-rod dystrophy and hearing loss 2, 618358