DDB2

damage specific DNA binding protein 2
OMIM: 600811, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green DDB2 in Chromosome Breakage Disorders


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.21

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740

Green DDB2 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740

Green DDB2 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.131

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green DDB2 in Photosensitivity Syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.8

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740

Green DDB2 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.573

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green DDB2 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Xeroderma pigmentosum

Red DDB2 in Fetal anomalies


Version 1.314

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Xeroderma pigmentosum, group E, DDB-negative subtype MIM#278740

Red DDB2 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.116

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740