DNA2

DNA replication helicase/nuclease 2
OMIM: 601810, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Red DNA2 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.25

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • seckel syndrome

Red DNA2 in Growth failure in early childhood


Version 0.3

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • seckel syndrome

Red DNA2 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.36

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Seckel syndrome 8 615807

Red DNA2 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.47

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • ?Seckel syndrome 8, 615807
  • SCKL8

Green DNA2 in Mitochondrial DNA maintenance disorder


Version 0.7

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156

Green DNA2 in Possible mitochondrial disorder - nuclear genes


Version 0.132

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156

Green DNA2 in Inborn errors of metabolism


Version 1.54

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6
  • 615156
  • Disorders of mitochondrial DNA maintenance and integrity

Green DNA2 in Molecular autopsy


Version 0.91

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6
  • 615156
  • Disorders of mitochondrial DNA maintenance and integrity

Red DNA2 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.800

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • PRIMORDIAL DWARFISM SECKEL SYNDROME 8
  • SCKL8

Green DNA2 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.105

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6
  • 615156

Red DNA2 in GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2


Version 0.4

review Not set
Sources
  • Expert Review Red
  • London North GLH

Green DNA2 in Cardiomyopathies - including childhood onset


Version 1.20

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6
  • 615156
  • Disorders of mitochondrial DNA maintenance and integrity

Green DNA2 in Mitochondrial disorders

Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 1.192

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6
  • 615156

Red DNA2 in DDG2P


Version 1.36

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • PRIMORDIAL DWARFISM SECKEL SYNDROME 8 615807