Genomics England

PMPCB

peptidase, mitochondrial processing beta subunit

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Ataxia and cerebellar anomalies - childhood onset Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 9.22	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 8.0	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 Signed-off version 9.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954, multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785
Green in Hereditary ataxia, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	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: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	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: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	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: - Leukodystrophy, childhood onset Signed-off version 10.18	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 5.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954, multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785