Genomics England

mitochondrial ribosomal protein L44

Panel	Mode of inheritance	Details
Filter panels4 panels
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 ?Combined oxidative phosphorylation deficiency 16, 615395, Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis), ?Combined oxidative phosphorylation deficiency 16, 615395
Green in Paediatric or syndromic cardiomyopathy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R135 Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Combined oxidative phosphorylation deficiency 16, 615395, Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Combined oxidative phosphorylation deficiency 16, 615395