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| DDG2P v3.12 | INPP5E | Achchuthan Shanmugasundram reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: ; Publications: 19668215, 19668216; Phenotypes: JOUBERT SYNDROME TYPE 1, OMIM:213300, INTELLECTUAL DEVELOPMENTAL DISORDER-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS, OMIM:610156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | INPP5E | Achchuthan Shanmugasundram Publications for gene: INPP5E were updated from 19668216 to 19668215; 19668216 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | INPP5E | Rebecca Foulger reviewed gene: INPP5E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | INPP5E |
Rebecca Foulger Added phenotypes JOUBERT SYNDROME TYPE 1 213300 for gene: INPP5E Publications for gene INPP5E were changed from 19668215 to 19668216 |
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| DDG2P v0.1 | INPP5E |
Rebecca Foulger gene: INPP5E was added gene: INPP5E was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INPP5E were set to 19668215 Phenotypes for gene: INPP5E were set to MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS 610156 |
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