Genomics England

pitrilysin metallopeptidase 1

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spinocerebellar ataxia, autosomal recessive 30, OMIM:619405
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 10.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spinocerebellar ataxia, autosomal recessive 30, OMIM:619405
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spinocerebellar ataxia, autosomal recessive 30, OMIM:619405
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 10.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spinocerebellar ataxia, autosomal recessive 30, OMIM:619405