| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DDG2P v3.12 | UROS | Achchuthan Shanmugasundram reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: ; Publications: 8946173, 19965637, 7860775, 2331520, 12060141, 1733834, 11254675, 9834209; Phenotypes: CONGENITAL ERYTHROPOIETIC PORPHYRIA, OMIM:263700; 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 v3.12 | RPE65 | Achchuthan Shanmugasundram reviewed gene: RPE65: Rating: GREEN; Mode of pathogenicity: ; Publications: 9326927; Phenotypes: LEBER CONGENITAL AMAUROSIS, OMIM:608553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NMNAT1 | Achchuthan Shanmugasundram reviewed gene: NMNAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22842229, 24830548, 26464178, 22842227, 26316326, 24940029, 12734549, 22842230; Phenotypes: LEBER CONGENITAL AMAUROSIS, OMIM:608553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRAT | Achchuthan Shanmugasundram reviewed gene: LRAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LEBER CONGENITAL AMAUROSIS, OMIM:608553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRX | Achchuthan Shanmugasundram reviewed gene: CRX: Rating: GREEN; Mode of pathogenicity: ; Publications: 9792858, 9390563, 15531334, 17320181, 25270190, 9537410, 9427255, 9931337, 12208271; Phenotypes: CRX-RELATED LEBER CONGENITAL AMAUROSIS LEBER CONGENITAL AMAUROSIS 7, OMIM:613829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRB1 | Achchuthan Shanmugasundram reviewed gene: CRB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16543197, 19140180, 11231775, 11389483, 10508521; Phenotypes: CRB1-related Leber Congenital Amaurosis and Retinitis Pigmentosa, OMIM:613835; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AIPL1 | Achchuthan Shanmugasundram reviewed gene: AIPL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10615133, 26650897, 10873396; Phenotypes: LEBER CONGENITAL AMAUROSIS 4, OMIM:604393; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | UROS | Achchuthan Shanmugasundram Publications for gene: UROS were updated from 7860775; 11254675; 19965637; 9834209; 1733834; 8946173; 12060141; 2331520 to 8946173; 19965637; 7860775; 2331520; 12060141; 1733834; 11254675; 9834209 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | UROS | Rebecca Foulger reviewed gene: UROS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | UROS |
Rebecca Foulger gene: UROS was added gene: UROS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UROS were set to 7860775; 11254675; 19965637; 9834209; 1733834; 8946173; 12060141; 2331520 Phenotypes for gene: UROS were set to CONGENITAL ERYTHROPOIETIC PORPHYRIA 263700 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | RPE65 |
Rebecca Foulger gene: RPE65 was added gene: RPE65 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPE65 were set to 9326927 Phenotypes for gene: RPE65 were set to LEBER CONGENITAL AMAUROSIS 608553 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NMNAT1 |
Rebecca Foulger gene: NMNAT1 was added gene: NMNAT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NMNAT1 were set to 22842227; 22842230; 12734549 Phenotypes for gene: NMNAT1 were set to LEBER CONGENITAL AMAUROSIS 608553 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LRAT |
Rebecca Foulger gene: LRAT was added gene: LRAT was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRAT were set to LEBER CONGENITAL AMAUROSIS 608553 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CRX |
Rebecca Foulger gene: CRX was added gene: CRX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CRX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CRX were set to CRX-RELATED LEBER CONGENITAL AMAUROSIS LEBER CONGENITAL AMAUROSIS 7 613829 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CRB1 |
Rebecca Foulger Added phenotypes LEBER CONGENITAL AMAUROSIS 8 613835 for gene: CRB1 Publications for gene CRB1 were changed from 10508521; 19140180; 11389483 to 11389483; 16543197; 11231775 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CEP290 |
Rebecca Foulger Added phenotypes LEBER CONGENITAL AMAUROSIS TYPE 10 611755 for gene: CEP290 Publications for gene CEP290 were changed from 16682973 to 16909394; 17554762 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | AIPL1 |
Rebecca Foulger gene: AIPL1 was added gene: AIPL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AIPL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AIPL1 were set to 10615133; 10873396 Phenotypes for gene: AIPL1 were set to LEBER CONGENITAL AMAUROSIS 4 604393 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||