1. Genes and Genomic Entities
  2. ITGB6

ITGB6

integrin subunit beta 6
OMIM: 147558, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green ITGB6 in Amelogenesis imperfecta


Level 2: Musculoskeletal
Version 4.30
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • amelogenesis imperfecta (non-syndromic form)
  • Amelogenesis imperfecta, type IH, 616221
  • Amelogenesis imperfecta, type IH, 616221
Red ITGB6 in Intellectual disability


Level 2: Developmental disorders
Version 9.285
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • Alopecia with mental retardation (APMR)
    • mild-to-moderate intellectual disability, adolescent alopecia and dentogingival abnormalities