Genomics England

ribonuclease H1

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Likely inborn error of metabolism - targeted testing not possible 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 4.78	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.114	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Green in Mitochondrial DNA maintenance disorder R-numbers: R352 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.69	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2