PanelApp
  1. Genes and Genomic Entities
  2. TUBB4B

TUBB4B

tubulin beta 4B class IVb
OMIM: 602660, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green TUBB4B in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.67

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Primary ciliary dyskinesia, MONDO:0016575, TUBB4B-related

Green TUBB4B in Mendeliome


Version 1.3795

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leber congenital amaurosis with early onset deafness, LCAEOD, OMIM #617879
  • MONDO:0060650
  • Primary ciliary dyskinesia, MONDO:0016575, TUBB4B-related

Green TUBB4B in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.304

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • TUBB4B-related ciliopathy, MONDO:1060115

Green TUBB4B in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 0.234

Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  4 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Leber congenital amaurosis with early-onset deafness MIM#617879
    • Primary ciliary dyskinesia, MONDO:0016575, TUBB4B-related

    Red TUBB4B in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Leber congenital amaurosis with early-onset deafness MIM#617879