Genomics England

PMPCB

peptidase, mitochondrial processing beta subunit

Panel	Mode of inheritance	Details
Filter panels8 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 Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954, multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodegeneration in Early Childhood
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 5.10	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954, multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954, multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954, multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785
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 Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954, multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954, multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954, multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785