1. Genes and Genomic Entities
  2. DDB1

DDB1

damage specific DNA binding protein 1
OMIM: 600045, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red DDB1 in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome


Level 2: Dermatology
Version 3.7
Latest signed off version: v3.0 (22 Mar 2023)

review Not set
Sources
  • Expert Review Red
  • UKGTN
Red DDB1 in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.11
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review Unknown
    Sources
    • Expert Review Red
    Green DDB1 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • DDB1-associated neurodevelopmental syndrome
    Red DDB1 in Anophthalmia or microphthalmia

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.56

    		review Not set
    Sources
    • UKGTN
    Green DDB1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual disability
    Red DDB1 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    		review Not set
    Sources
    • NHS GMS
    • Expert Review Red