Genomics England

PMPCA

peptidase, mitochondrial processing alpha subunit

Panel	Mode of inheritance	Details
Filter panels5 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 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spinocerebellar ataxia, autosomal recessive 2 213200 AR, Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Autosomal recessive spinocerebellar ataxia 2, 213200, Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.
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 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes slowly progressive cerebellar ataxia, non-progressive cerebellar ataxia
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes non-progressive cerebellar ataxia, slowly progressive cerebellar ataxia
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, 213200