DNA2

DNA replication helicase/nuclease 2
OMIM: 601810, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red DNA2 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.29

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

Red DNA2 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.48

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

Green DNA2 in Mitochondrial DNA maintenance disorder


Version 1.0

Component of the following Super Panels:

  • GMS Mitochondrial super panel v9.12
  • 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

    Red DNA2 in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.74

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

    Green DNA2 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.411

    Component of the following Super Panels:

  • Merge for inborn errors of metabolism v2.99
  • 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

    Green DNA2 in Inborn errors of metabolism


    Version 1.407

    Component of the following Super Panels:

  • Merge for Molecular autopsy v5.171
  • Paediatric disorders v4.401
  • White matter disorders - childhood onset v4.233
  • Hypotonic infant with a likely central cause v3.1053
  • Hereditary ataxia and cerebellar anomalies - childhood onset v3.433
  • Merge for Cardiomyopathies - including childhood onset v3.193
  • Epilepsy - early onset or syndromic v2.907
  • 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 Possible mitochondrial disorder - nuclear genes


    Version 1.12

    Component of the following Super Panels:

  • GMS Mitochondrial super panel v9.12
  • 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

    Red DNA2 in DDG2P


    Version 1.148

    Component of the following Super Panels:

  • Paediatric disorders v4.401
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • PRIMORDIAL DWARFISM SECKEL SYNDROME 8 615807

    Red DNA2 in Growth failure in early childhood


    Version 1.3

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

    Red DNA2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1102

    Component of the following Super Panels:

  • Paediatric disorders v4.401
  • White matter disorders - childhood onset v4.233
  • Hypotonic infant with a likely central cause v3.1053
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • PRIMORDIAL DWARFISM SECKEL SYNDROME 8
    • SCKL8

    Green DNA2 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.2

    Component of the following Super Panels:

  • Merge for Molecular autopsy v5.171
  • White matter disorders - childhood onset v4.233
  • Merge for Cardiomyopathies - including childhood onset v3.193
  • Merge for inborn errors of metabolism v2.99
  • 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