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| DDG2P v3.12 | AP4B1 | Achchuthan Shanmugasundram reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22290197, 21620353; Phenotypes: CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 5, OMIM:614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | AP4B1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to AP4B1. Publications for gene: AP4B1 were updated from 21620353; 22290197 to 22290197; 21620353 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | AP4B1 | Rebecca Foulger reviewed gene: AP4B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | AP4B1 |
Rebecca Foulger gene: AP4B1 was added gene: AP4B1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4B1 were set to 21620353; 22290197 Phenotypes for gene: AP4B1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 5 614066 |
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