DCT:Ensemblv90

dopachrome tautomerase
OMIM: 191275, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green DCT in Ocular and Oculocutaneous Albinism


Level 2: Ophthalmological disorders
Version 1.12

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oculocutaneous albinism, type VIII, MIM# 619165

Green DCT in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Oculocutaneous albinism, type VIII, MIM# 619165

Green DCT in Congenital nystagmus


Level 2: Ophthalmological disorders
Version 1.23

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
  • Literature
Phenotypes
  • Oculocutaneous albinism, type VIII, MIM# 619165

Green DCT in Ocular and Oculocutaneous Albinism


Level 2: Ophthalmological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Oculocutaneous albinism, type VIII, MIM# 619165

Green DCT in Congenital nystagmus


Level 2: Ophthalmological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • NHS Genomic Medicine Service
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Oculocutaneous albinism, type VIII, MIM# 619165