DDB1:Ensemblv90

damage specific DNA binding protein 1
OMIM: 600045, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green DDB1 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • White-Kernohan syndrome, MIM# 619426

Green DDB1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • White-Kernohan syndrome, MIM# 619426

Green DDB1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • White-Kernohan syndrome, MIM# 619426