DNA2

DNA replication helicase/nuclease 2
OMIM: 601810
PanelMode of inheritanceDetails
6 panels
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seckel syndrome 8, OMIM:615807
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 5.0
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:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
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 3.0
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 3.105
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156
R-numbers: R88
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seckel syndrome 8, OMIM:615807, Microcephalic primordial dwarfism, MONDO:0017950