Genomics England

pentatricopeptide repeat domain 3

Panel	Mode of inheritance	Details
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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 7.54	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Combined oxidative phosphorylation deficiency 51, OMIM:619057, combined oxidative phosphorylation deficiency 51, MONDO:0033631
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 7.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Combined oxidative phosphorylation deficiency 51, OMIM:619057, combined oxidative phosphorylation deficiency 51, MONDO:0033631
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 8.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Combined oxidative phosphorylation deficiency 51, OMIM:619057, combined oxidative phosphorylation deficiency 51, MONDO:0033631
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.113	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Combined oxidative phosphorylation deficiency 51, OMIM:619057, combined oxidative phosphorylation deficiency 51, MONDO:0033631