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| Severe microcephaly v3.5 | CHKA |
Arina Puzriakova Tag Q3_22_rating was removed from gene: CHKA. Tag Q3_22_MOI was removed from gene: CHKA. |
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| Severe microcephaly v3.5 | CHKA | Arina Puzriakova reviewed gene: CHKA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v3.4 | CHKA |
Arina Puzriakova Source Expert Review Green was added to CHKA. Source NHS GMS was added to CHKA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v2.316 | CHKA |
Sarah Leigh Tag Q3_22_rating tag was added to gene: CHKA. Tag Q3_22_MOI tag was added to gene: CHKA. |
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| Severe microcephaly v2.316 | CHKA | Sarah Leigh Entity copied from Genetic epilepsy syndromes v2.573 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.316 | CHKA |
Sarah Leigh gene: CHKA was added gene: CHKA was added to Severe microcephaly. Sources: Expert Review Amber,Literature Mode of inheritance for gene: CHKA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHKA were set to 35202461 Phenotypes for gene: CHKA were set to Abnormal muscle tone; Global developmental delay; Intellectual disability; Seizures; Microcephaly; Abnormality of movement; Abnormality of nervous system morphology; Short stature Penetrance for gene: CHKA were set to Complete |
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