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Retinal disorders v1.228 | RDH12 | Ivone Leong Added comment: Comment on mode of inheritance: MOI has been updated from Biallelic to BOTH monoallelic and biallelic based on PMID: 31505163, which describes both autosomal dominant and recessive retinal phenotypes. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v1.228 | RDH12 | Ivone Leong Mode of inheritance for gene: RDH12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v1.227 | RDH12 | Ivone Leong Publications for gene: RDH12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v1.159 | RDH12 | Gavin Arno reviewed gene: RDH12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v1.137 | RDH12 |
Ivone Leong Source NHS GMS was added to RDH12. Rating Changed from Green List (high evidence) to Green List (high evidence) |