HEATR5B

Panel	Reviews	Mode of inheritance	Details
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Amber HEATR5B in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 1.65	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes pontocerebellar hypoplasia intellectual disability seizures
Amber HEATR5B in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes pontocerebellar hypoplasia intellectual disability seizures
Amber HEATR5B in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Phenotypes pontocerebellar hypoplasia intellectual disability seizures
Amber HEATR5B in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes pontocerebellar hypoplasia intellectual disability seizures

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