DDB1

damage specific DNA binding protein 1
OMIM: 600045, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green DDB1 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • White-Kernohan syndrome, MIM# 619426
  • Syndromic intellectual disability

Green DDB1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Research
Phenotypes
  • White-Kernohan syndrome, MIM# 619426
  • Syndromic intellectual disability