Genomics England

atrophin 1

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494
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	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494