1. Genes and Genomic Entities
  2. DNA2

DNA2

DNA replication helicase/nuclease 2
OMIM: 601810, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels
Red DNA2 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.70

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • seckel syndrome
Red DNA2 in Cerebral vascular malformations


Level 2: Neurology
Version 5.3
Latest signed off version: v5.2 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • Literature
Phenotypes
  • Seckel syndrome 8, OMIM:615807
Green DNA2 in Mitochondrial DNA maintenance disorder


Level 2: Mitochondrial
Version 3.11
Latest signed off version: v3.10 (12 Aug 2026)

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 Severe microcephaly


Level 2: Neurology
Version 9.14
Latest signed off version: v9.13 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Seckel syndrome 8, OMIM:615807
  • Microcephalic primordial dwarfism, MONDO:0017950
Green DNA2 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.645

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 Likely inborn error of metabolism


Level 2: Metabolic
Version 9.30
Latest signed off version: v9.29 (12 Aug 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  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


    Level 2: Mitochondrial
    Version 5.18
    Latest signed off version: v5.17 (12 Aug 2026)

    		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 Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Seckel syndrome 8, OMIM:615807
    Red DNA2 in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • PRIMORDIAL DWARFISM SECKEL SYNDROME 8 615807
    Red DNA2 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.1
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Seckel syndrome 8, OMIM:615807
    Green DNA2 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.19
    Latest signed off version: v10.18 (12 Aug 2026)

    Component of the following Super Panels:

  • Leukodystrophy, childhood onset

    		•  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 Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Red DNA2 in Monogenic short stature


    Level 2: Endocrinology
    Version 2.9
    Latest signed off version: v2.8 (12 Aug 2026)

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