Retinal disordersGene: TUBB4B
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
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
Leber congenital amaurosis with early-onset deafness MIM#617879
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: TUBB4B.
Source Expert Review Green was added to TUBB4B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: TUBB4B.
Gene: tubb4b has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: TUBB4B were changed from Leber congenital amaurosis with early-onset deafness MIM#617879 to Leber congenital amaurosis with early-onset deafness, OMIM:617879
gene: TUBB4B was added gene: TUBB4B was added to Retinal disorders. Sources: Expert list Mode of inheritance for gene: TUBB4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBB4B were set to 29198720 Phenotypes for gene: TUBB4B were set to Leber congenital amaurosis with early-onset deafness MIM#617879 Review for gene: TUBB4B was set to GREEN gene: TUBB4B was marked as current diagnostic