Genomics England

DnaJ heat shock protein family (Hsp40) member C6

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Parkinson disease 19b, early-onset, OMIM:615528, Parkinson disease 19a juvenile-onset, OMIM:615528, juvenile onset Parkinson disease 19A, MONDO:0014231
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 6.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Parkinson disease 19b, early-onset, OMIM:615528, Parkinson disease 19a juvenile-onset, OMIM:615528, juvenile onset Parkinson disease 19A, MONDO:0014231
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Parkinson disease 19b, early-onset, OMIM:615528, Parkinson disease 19a juvenile-onset, OMIM:615528, juvenile onset Parkinson disease 19A, MONDO:0014231
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 6.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Parkinson disease 19b, early-onset, OMIM:615528, Parkinson disease 19a juvenile-onset, OMIM:615528, juvenile onset Parkinson disease 19A, MONDO:0014231