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| Structural eye disease v0.76 | SC5D | Nicola Ragge reviewed gene: SC5D: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: LATHOSTEROLOSIS, 607330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | SC5D | Ivone Leong edited their review of gene: SC5D: Changed phenotypes: LATHOSTEROLOSIS, 607330 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | SC5D | Ivone Leong reviewed gene: SC5D: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Orofaciodigital syndrome IX (a severe ciliopathy phenotype featuring midline cleft, microcephaly, and colobomatous microphthalmia/anophthalmia, one case only (Adly et al 2014), variant was classified as unknown significance by OMIM), None; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | SC5D |
Ivone Leong gene: SC5D was added gene: SC5D was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SC5D were set to LATHOSTEROLOSIS, 607330 |
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