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Intellectual disability v3.1129 PHACTR1 Arina Puzriakova Phenotypes for gene: PHACTR1 were changed from Global developmental delay; Intellectual disability; Seizures:Epileptic encephalopathy, early infantile, 70 618298; PHACTR1-associated neurodevelopment disorder to Developmental and epileptic encephalopathy 70, OMIM:618298
Intellectual disability v2.806 PHACTR1 Eleanor Williams Phenotypes for gene: PHACTR1 were changed from Global developmental delay; Intellectual disability; Seizures:Epileptic encephalopathy, early infantile, 70 618298; PHACTR1-associated neurodevelopment disorder to Global developmental delay; Intellectual disability; Seizures:Epileptic encephalopathy, early infantile, 70 618298; PHACTR1-associated neurodevelopment disorder
Intellectual disability v2.805 PHACTR1 Eleanor Williams Phenotypes for gene: PHACTR1 were changed from to Global developmental delay; Intellectual disability; Seizures:Epileptic encephalopathy, early infantile, 70 618298; PHACTR1-associated neurodevelopment disorder
Intellectual disability v2.804 PHACTR1 Eleanor Williams Publications for gene: PHACTR1 were set to
Intellectual disability v2.803 PHACTR1 Eleanor Williams Added comment: Comment on mode of pathogenicity: Proposed dominant negative or incomplete penetrance mode of action (PMIDs: 23033978, 28135719)
Intellectual disability v2.803 PHACTR1 Eleanor Williams Mode of pathogenicity for gene: PHACTR1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability v2.802 PHACTR1 Eleanor Williams Mode of inheritance for gene: PHACTR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v2.801 PHACTR1 Eleanor Williams Classified gene: PHACTR1 as Green List (high evidence)
Intellectual disability v2.801 PHACTR1 Eleanor Williams Added comment: Comment on list classification: 3 cases plus functional evidence (from PMIDs: 23033978, 28135719), supporting a dominant negative mode of action or incomplete penetrance.
Intellectual disability v2.801 PHACTR1 Eleanor Williams Gene: phactr1 has been classified as Green List (High Evidence).
Intellectual disability v2.651 PHACTR1 Eleanor Williams commented on gene: PHACTR1
Intellectual disability v2.554 PHACTR1 Konstantinos Varvagiannis reviewed gene: PHACTR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30256902, 23033978, 28135719; Phenotypes: Global developmental delay, Intellectual disability, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted