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| DDG2P v3.12 | PLXND1 | Achchuthan Shanmugasundram reviewed gene: PLXND1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35396997, 24254849, 26068067; Phenotypes: MOEBIUS SYNDROME, PLXND1-related cardiac malformation syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PLXND1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PLXND1. Mode of inheritance for gene PLXND1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLXND1 were updated from 24254849 to 35396997; 24254849; 26068067 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v0.2 | PLXND1 | Rebecca Foulger reviewed gene: PLXND1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PLXND1 |
Rebecca Foulger Added phenotypes TRUNCUS ARTERIOSIS for gene: PLXND1 Publications for gene PLXND1 were changed from to 24254849 |
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| DDG2P v0.1 | PLXND1 |
Rebecca Foulger gene: PLXND1 was added gene: PLXND1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PLXND1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PLXND1 were set to MOEBIUS SYNDROME Mode of pathogenicity for gene: PLXND1 was set to Other - please provide details in the comments |
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