Genomics England

synaptojanin 1

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Dystonia, chorea or related movement disorder, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 6.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Parkinson disease 20, early-onset, OMIM:615530
Green in Dystonia, chorea or related movement disorder, childhood onset R-numbers: R57 Signed-off version 8.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Parkinson disease 20, early-onset, 615530, juvenile Parkinsonism
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 Signed-off version 9.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epileptic encephalopathy, early infantile, 53, 617389
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes early onset refractory seizures and progressive neurological decline, Epileptic encephalopathy, early infantile, 53, 617389
Green in Neurodegenerative disorders, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Parkinson disease 20, early-onset, OMIM:615530