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| DDG2P v3.12 | RPGRIP1L | Achchuthan Shanmugasundram reviewed gene: RPGRIP1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 17558407, 17558409, 18565097, 19574260; Phenotypes: MECKEL SYNDROME TYPE 5, OMIM:611561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RPGRIP1 | Achchuthan Shanmugasundram reviewed gene: RPGRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12920076, 11283794, 11528500; Phenotypes: LEBER CONGENITAL AMAUROSIS 6, OMIM:613826, CONE-ROD DYSTROPHY 13, OMIM:608194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RPGRIP1L | Achchuthan Shanmugasundram Publications for gene: RPGRIP1L were updated from 18565097; 17558409; 17558407 to 17558409; 17558407; 18565097; 19574260 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RPGRIP1 | Achchuthan Shanmugasundram Publications for gene: RPGRIP1 were updated from 12920076 to 12920076; 11283794; 11528500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.77 | RPGRIP1 | Eleanor Williams commented on gene: RPGRIP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.74 | RPGRIP1 | Dmitrijs Rots reviewed gene: RPGRIP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | RPGRIP1L | Rebecca Foulger reviewed gene: RPGRIP1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | RPGRIP1 | Rebecca Foulger reviewed gene: RPGRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | RPGRIP1L |
Rebecca Foulger Added phenotypes JOUBERT SYNDROME TYPE 7 611560 for gene: RPGRIP1L Publications for gene RPGRIP1L were changed from 17558409 to 18565097; 17558409; 17558407 |
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| DDG2P v0.1 | RPGRIP1L |
Rebecca Foulger Added phenotypes MECKEL SYNDROME TYPE 5 611561 for gene: RPGRIP1L Publications for gene RPGRIP1L were changed from to 17558409 |
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| DDG2P v0.1 | RPGRIP1L |
Rebecca Foulger gene: RPGRIP1L was added gene: RPGRIP1L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RPGRIP1L were set to COACH SYNDROME 216360 |
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| DDG2P v0.1 | RPGRIP1 |
Rebecca Foulger Added phenotypes CONE-ROD DYSTROPHY 13 608194 for gene: RPGRIP1 Publications for gene RPGRIP1 were changed from 11283794; 11528500 to 12920076 |
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| DDG2P v0.1 | RPGRIP1 |
Rebecca Foulger gene: RPGRIP1 was added gene: RPGRIP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPGRIP1 were set to 11283794; 11528500 Phenotypes for gene: RPGRIP1 were set to LEBER CONGENITAL AMAUROSIS 6 613826 |
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