1. Genes and Genomic Entities
  2. ABCB6

ABCB6

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green ABCB6 in Pigmentary skin disorders


Level 2: Dermatology
Version 4.13
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, 615402
Red ABCB6 in Ocular coloboma

Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.51

review Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia, isolated, with coloboma 7, 614497[Blood group, Langereis system], 111600Dyschromatosis universalis hereditaria 3, 615402
Red ABCB6 in DDG2P


Version 6.438
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 614497
    Red ABCB6 in Anophthalmia or microphthalmia

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.56

    		review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Microphthalmia, isolated, with coloboma 7, 614497
    Red ABCB6 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.46
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review Not set
    Sources
    • Expert list
    Phenotypes
    • Dyschromatosis universalis hereditaria 3 615402
    • Microphthalmia, isolated, with coloboma 7 614497
    • Pseudohyperkalemia, familial, 2, due to red cell leak 609153
    Green ABCB6 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.40
    Latest signed off version: v4.0 (7 Aug 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Microphthalmia, isolated, with coloboma 7, 614497
    • [Blood group, Langereis system], 111600
    • Dyschromatosis universalis hereditaria 3, 615402