| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Structural eye disease v0.76 | RPGRIP1 | Nicola Ragge reviewed gene: RPGRIP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone-rod dystrophy 13, Leber congenital amaurosis 6, 608194, 613826; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | RPGR | Nicola Ragge reviewed gene: RPGR: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Retinitis pigmentosa 3, Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, Macular degeneration, X-linked atrophic, Cone-rod dystrophy, X-linked, 1 , 300029, 300455, 300834, 304020; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | RPGRIP1L | Nicola Ragge reviewed gene: RPGRIP1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 19574260; Phenotypes: COACH syndrome, 216360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.48 | RPGRIP1 | Ivone Leong edited their review of gene: RPGRIP1: Changed phenotypes: Cone-rod dystrophy 13, 608194, Leber congenital amaurosis 6, 613826 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.48 | RPGR | Ivone Leong edited their review of gene: RPGR: Changed phenotypes: Retinitis pigmentosa 3, 300029, Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455, Macular degeneration, X-linked atrophic, 300834, Cone-rod dystrophy, X-linked, 1, 304020 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | RPGRIP1 | Ivone Leong reviewed gene: RPGRIP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinoschisis, 312700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | RPGR | Ivone Leong reviewed gene: RPGR: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Cone-rod dystrophy 13, 608194, Leber congenital amaurosis 6, 613826; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | RPGRIP1L | Ivone Leong reviewed gene: RPGRIP1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 19574260; Phenotypes: COACH syndrome, 216360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | RPGRIP1 |
Ivone Leong Source NHS GMS was added to RPGRIP1. Mode of inheritance for gene RPGRIP1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cone-rod dystrophy 13, 608194; Leber congenital amaurosis 6, 613826 for gene: RPGRIP1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | RPGR |
Ivone Leong Source NHS GMS was added to RPGR. Mode of inheritance for gene RPGR was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Macular degeneration, X-linked atrophic, 300834; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455; Cone-rod dystrophy, X-linked, 1, 304020; Retinitis pigmentosa 3, 300029 for gene: RPGR |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | RPGRIP1L |
Ivone Leong Source NHS GMS was added to RPGRIP1L. Added phenotypes COACH syndrome, 216360 for gene: RPGRIP1L |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.2 | RPGRIP1 |
Ellen McDonagh gene: RPGRIP1 was added gene: RPGRIP1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: RPGRIP1 was set to Phenotypes for gene: RPGRIP1 were set to Eye Disorders |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.2 | RPGR |
Ellen McDonagh gene: RPGR was added gene: RPGR was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: RPGR was set to Phenotypes for gene: RPGR were set to Eye Disorders |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.2 | RPGRIP1L |
Ellen McDonagh gene: RPGRIP1L was added gene: RPGRIP1L was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPGRIP1L were set to 19574260 Phenotypes for gene: RPGRIP1L were set to COACH syndrome, 216360 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||