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DDG2P v3.12 | POC1A | Achchuthan Shanmugasundram reviewed gene: POC1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 26336158, 22840364, 22440536, 22840363; Phenotypes: PRIMORDIAL DWARFISM, OMIM:615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | POC1A | Achchuthan Shanmugasundram Publications for gene: POC1A were updated from 22840364; 22440536 to 26336158; 22840363; 22440536; 22840364 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | POC1A | Rebecca Foulger reviewed gene: POC1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | POC1A |
Rebecca Foulger Added phenotypes PRIMORDIAL DWARFISM 615272 for gene: POC1A Publications for gene POC1A were changed from 22840364; 26336158; 22440536; 22840363 to 22840364; 22440536 |
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DDG2P v0.1 | POC1A |
Rebecca Foulger gene: POC1A was added gene: POC1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POC1A were set to 22840364; 26336158; 22440536; 22840363 Phenotypes for gene: POC1A were set to SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME 614813 |