RNASEH1

PanelMode of inheritanceDetails
4 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
R-numbers: R352
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2