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| Structural eye disease v0.76 | PCDH15 | Nicola Ragge reviewed gene: PCDH15: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Usher syndrome, type 1D/F digenic, Usher syndrome, type 1F, Deafness, autosomal recessive 23, 601067, 602083, 609533; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.48 | PCDH15 | Ivone Leong edited their review of gene: PCDH15: Changed phenotypes: Usher syndrome, type 1D/F digenic, 601067, Usher syndrome, type 1F, 602083, Deafness, autosomal recessive 23, 609533 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | PCDH15 | Ivone Leong reviewed gene: PCDH15: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Retinitis pigmentosa 43, 613810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | PCDH15 |
Ivone Leong Source NHS GMS was added to PCDH15. Mode of inheritance for gene PCDH15 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Usher syndrome, type 1F, 602083; Usher syndrome, type 1D/F digenic, 601067; Deafness, autosomal recessive 23, 609533 for gene: PCDH15 |
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| Structural eye disease v0.2 | PCDH15 |
Ellen McDonagh gene: PCDH15 was added gene: PCDH15 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: PCDH15 was set to Phenotypes for gene: PCDH15 were set to Eye Disorders |
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