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Intellectual disability - microarray and sequencing v3.314 CAMK2G Arina Puzriakova Publications for gene: CAMK2G were set to 26350204; 24896178; 23033978
Intellectual disability - microarray and sequencing v3.313 CAMK2G Arina Puzriakova Phenotypes for gene: CAMK2G were changed from to Mental retardation, autosomal dominant 59, 618522
Intellectual disability - microarray and sequencing v3.312 CAMK2G Arina Puzriakova Mode of pathogenicity for gene: CAMK2G 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 - microarray and sequencing v3.311 CAMK2G Arina Puzriakova Classified gene: CAMK2G as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing v3.311 CAMK2G Arina Puzriakova Added comment: Comment on list classification: Rating has been upgraded from Red to Amber based on the review by Konstantinos Varvagiannis - two unrelated individuals with severe ID, associated with de novo CAMK2G variants, with addition of functional data.
Intellectual disability - microarray and sequencing v3.311 CAMK2G Arina Puzriakova Gene: camk2g has been classified as Amber List (Moderate Evidence).
Intellectual disability - microarray and sequencing v2.510 CAMK2G Konstantinos Varvagiannis reviewed gene: CAMK2G: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 30184290; Phenotypes: Generalized hypotonia, Global developmental delay, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes