PanelApp (test)
  1. Genes and Genomic Entities
  2. ABCB6

ABCB6

ATP binding cassette subfamily B member 6 (Langereis blood group)
OMIM: 605452, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red ABCB6 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.39

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Microphthalmia, isolated, with coloboma 7 MIM#614497

Green ABCB6 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pseudohyperkalemia, familial, 2, due to red cell leak, MIM# 609153
  • Microphthalmia, isolated, with coloboma 7, MIM# 614497
  • Dyschromatosis universalis hereditaria 3, MIM# 615402

Red ABCB6 in Haem degradation and bilirubin metabolism defects


Level 2: Metabolic disorders
Version 0.17

Component of the following Super Panels:

  • Liverome Superpanel
  • Metabolic Disorders Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    Phenotypes
    • familial pseudohyperkalemia MONDO:0012204
    • Disorders of heme synthesis and porphyrias