TUBB4B

tubulin beta 4B class IVb
OMIM: 602660, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green TUBB4B in Respiratory ciliopathies including non-CF bronchiectasis


Level 2: Respiratory
Version 4.55
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • primary ciliary dyskinesia, MONDO:0016575
Green TUBB4B in Monogenic hearing loss


Level 2: Audiology
Version 5.57
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Leber congenital amaurosis with early-onset deafness, OMIM:617879
    • sensorineural hearing loss disorder, MONDO:0020678
    Tags
    • dd_review
    Green TUBB4B in Retinal disorders


    Level 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leber congenital amaurosis with early-onset deafness, OMIM:617879