Retinal disorders
Gene: TUBB4B

TUBB4B (tubulin beta 4B class IVb)
EnsemblGeneIds (GRCh38): ENSG00000188229
EnsemblGeneIds (GRCh37): ENSG00000188229
OMIM: 602660, Gene2Phenotype
TUBB4B is in 3 panels

2 reviews

Ivone Leong (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 10:43 a.m. | Last Modified: 8 Mar 2022, 10:43 a.m.

Panel Version: 2.245

Comment on list classification: This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be made Green at the next review.
Created: 16 Feb 2021, 3:19 p.m. | Last Modified: 16 Feb 2021, 3:19 p.m.

Panel Version: 2.164

Created: 16 Feb 2021, 3:19 p.m.
Last Modified: 16 Feb 2021, 3:19 p.m.
Panel version: 2.245

Zornitza Stark (Australian Genomics)

Green List (high evidence)

At least 5 affected individuals from 4 families with Leber congenital amaurosis and early-onset deafness with heterozygosity for 2 missense (R391H, R391C). Functional analysis demonstrated that the mutations have a significant dampening impact on microtubular growth.
Sources: Expert list
Created: 15 Oct 2020, 8:02 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Leber congenital amaurosis with early-onset deafness MIM#617879

Publications

29198720

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Oct 2020, 8:02 a.m.

Panel version: 2.20

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green

Phenotypes

Leber congenital amaurosis with early-onset deafness, OMIM:617879

OMIM

602660

Clinvar variants

Variants in TUBB4B

Penetrance

None

Publications

29198720

Panels with this gene