TUBB4B:Ensemblv115

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green TUBB4B in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 2.0

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

Green TUBB4B in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

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

Green TUBB4B in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 1.0

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

Green TUBB4B in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis with early-onset deafness