CISD2

CDGSH iron sulfur domain 2
OMIM: 611507, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels
Green CISD2 in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.69

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • 604928
  • Wolfram syndrome 2
Red CISD2 in Neonatal diabetes


Level 2: Endocrinology
Version 6.3
Latest signed off version: v6.2 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
  • Other
Green CISD2 in Familial diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.69

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Wolfram syndrome 2, 604928
Green CISD2 in Monogenic diabetes


Level 2: Endocrinology
Version 3.27
Latest signed off version: v3.26 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Wolfram syndrome 2, OMIM:604928
Green CISD2 in Optic neuropathy


Level 2: Ophthalmology
Version 6.51
Latest signed off version: v6.46 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • WOLFRAM SYNDROME 2, 604928
Green CISD2 in Undiagnosed metabolic disorders

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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Wolfram syndrome 2 604928
Green CISD2 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    • NHS GMS
    Phenotypes
    • Wolfram syndrome 2 604928
    Red CISD2 in Possible mitochondrial disorder, nuclear genes


    Level 2: Mitochondrial
    Version 5.23
    Latest signed off version: v5.17 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Wolfram syndrome 2, 604928
    Red CISD2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • WOLFRAM SYNDROME TYPE 2
    Green CISD2 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 Green
    • DD-Gene2Phenotype
    Phenotypes
    • WOLFRAM SYNDROME TYPE 2 604928
    Green CISD2 in Monogenic hearing loss


    Level 2: Audiology
    Version 6.42
    Latest signed off version: v6.34 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • hearing loss
    • Wolfram syndrome 2, OMIM:604928
    Red CISD2 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    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
    • WOLFRAM SYNDROME TYPE 2
    Red CISD2 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.23
    Latest signed off version: v10.18 (12 Aug 2026)

    Component of the following Super Panels:

  • Leukodystrophy, childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Wolfram syndrome 2, 604928
    Red CISD2 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