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Childhood onset dystonia, chorea or related movement disorder v1.232 | CAMK4 | Eleanor Williams Tag gene-checked tag was added to gene: CAMK4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.217 | CAMK4 | Sarah Leigh commented on gene: CAMK4: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | CAMK4 | Sarah Leigh Tag Q3_21_rating was removed from gene: CAMK4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.212 | CAMK4 | Sarah Leigh commented on gene: CAMK4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.211 | CAMK4 |
Sarah Leigh Source Expert Review Green was added to CAMK4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v1.153 | CAMK4 | Arina Puzriakova Entity copied from Intellectual disability v3.1289 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.153 | CAMK4 |
Arina Puzriakova gene: CAMK4 was added gene: CAMK4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Other,Expert Review Amber,Literature Q3_21_rating tags were added to gene: CAMK4. Mode of inheritance for gene: CAMK4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CAMK4 were set to 30262571; 33098801; 33211350 Phenotypes for gene: CAMK4 were set to Global developmental delay; Intellectual disability; Autism; Behavioral abnormality; Abnormality of movement; Dystonia; Ataxia; Chorea; Myoclonus Penetrance for gene: CAMK4 were set to Complete Mode of pathogenicity for gene: CAMK4 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |