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| Structural eye disease v0.76 | DHX38 | Nicola Ragge reviewed gene: DHX38: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis Pigmentosa and Macular Coloboma, 618220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | DHX38 | Ivone Leong edited their review of gene: DHX38: Changed phenotypes: Retinitis Pigmentosa and Macular Coloboma, 618220 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | DHX38 | Ivone Leong reviewed gene: DHX38: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dihydropyrimidine dehydrogenase deficiency , 274270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | DHX38 |
Ivone Leong gene: DHX38 was added gene: DHX38 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: DHX38 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHX38 were set to Retinitis Pigmentosa and Macular Coloboma, 618220 |
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