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| DDG2P v3.12 | FKRP | Achchuthan Shanmugasundram reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: ; Publications: 11053680, 12654965, 15121789, 11592034, 14523375, 17336067, 11741828, 14647208, 14652796, 11071142, 12707439; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A5, OMIM:613153; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FKRP | Achchuthan Shanmugasundram Publications for gene: FKRP were updated from 12654965; 17336067; 14647208; 11071142; 11592034; 14652796; 11053680 to 11053680; 12654965; 15121789; 11592034; 14523375; 17336067; 11741828; 14647208; 14652796; 11071142; 12707439 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FKRP | Rebecca Foulger reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FKRP |
Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH OR WITHOUT MENTAL RETARDATION TYPE B5 606612 for gene: FKRP Publications for gene FKRP were changed from 15121789 to 12654965; 17336067; 14647208; 11071142; 11592034; 14652796; 11053680 |
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| DDG2P v0.1 | FKRP |
Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A5 613153 for gene: FKRP Publications for gene FKRP were changed from 11741828; 14523375; 12707439; 14647208 to 15121789 |
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| DDG2P v0.1 | FKRP |
Rebecca Foulger gene: FKRP was added gene: FKRP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKRP were set to 11741828; 14523375; 12707439; 14647208 Phenotypes for gene: FKRP were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C5 607155 |
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