Activity
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4 actions
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| DDG2P v4.10 | FIBP | Achchuthan Shanmugasundram reviewed gene: FIBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 26660953, 38102793, 36919607, 27183861, 37218527, 37876348; Phenotypes: FIBP-related overgrowth syndrome with developmental delay (Thauvin-Robinet-Faivre syndrome); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | FIBP |
Achchuthan Shanmugasundram gene: FIBP was added gene: FIBP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FIBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FIBP were set to 26660953; 38102793; 36919607; 27183861; 37218527; 37876348 Phenotypes for gene: FIBP were set to FIBP-related overgrowth syndrome with developmental delay (Thauvin-Robinet-Faivre syndrome) |
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| DDG2P v3.12 | PPFIBP1 | Achchuthan Shanmugasundram reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30214071, 35830857; Phenotypes: PPFIBP1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PPFIBP1 |
Achchuthan Shanmugasundram gene: PPFIBP1 was added gene: PPFIBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPFIBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPFIBP1 were set to 30214071; 35830857 Phenotypes for gene: PPFIBP1 were set to PPFIBP1-related neurodevelopmental disorder |
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