Genomics England

MRPL49

mitochondrial ribosomal protein L49

Panel	Mode of inheritance	Details
Filter panels5 panels
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 Combined oxidative phosphorylation deficiency 60, OMIM:621195, combined oxidative phosphorylation deficiency, MONDO:0000732
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 Combined oxidative phosphorylation deficiency 60, OMIM:621195, combined oxidative phosphorylation deficiency, MONDO:0000732
Green in Mitochondrial disorders Component of the following Super Panels: - Leukodystrophy, childhood onset Signed-off version 10.18	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 60, OMIM:621195, combined oxidative phosphorylation deficiency, MONDO:0000732
Green in Monogenic hearing loss Component of the following Super Panels: - Paediatric disorders R-numbers: R67 Signed-off version 6.34	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 60, OMIM:621195, combined oxidative phosphorylation deficiency, MONDO:0000732
Green in Severe microcephaly R-numbers: R88 Signed-off version 9.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 60, OMIM:621195, combined oxidative phosphorylation deficiency, MONDO:0000732