DNA2

DNA replication helicase/nuclease 2
OMIM: 601810
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6, 615156, Disorders of mitochondrial DNA maintenance and integrity
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Disorders of mitochondrial DNA maintenance and integrity, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6, 615156
R-numbers: R352
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156
R-numbers: R63
Signed-off version 1.17
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156