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  2. Ciliary Dyskinesia
  3. TUBB4B
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Ciliary Dyskinesia

Gene: TUBB4B

Green List (high evidence)
TUBB4B (tubulin beta 4B class IVb)
EnsemblGeneIds (GRCh38): ENSG00000188229
EnsemblGeneIds (GRCh37): ENSG00000188229
OMIM: 602660, Gene2Phenotype
TUBB4B is in 6 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ESHG 2023:
De novo heterozygous TUBB4B variants found in:
-8 patients with recurrent respiratory infections (PCD phenotype), irregular corpus callosum, and dilated ventricles (suggesting motile cilia anomaly)
-3 patients with retinal dystrophy, SNHL, and PCD respiratory issues

Functional studies:
-variants showed decreased cilia number and length, and mislocalisation of dyenin motors
-mouse models had decreased cilia number and length in trachea, and reduction in cilia in choroid plexus cells leading to hydrocephaly
Sources: Other
Created: 25 Jul 2023, 2:21 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Primary ciliary dyskinesia

Created: 25 Jul 2023, 2:21 a.m.

Panel version: 1.32

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Primary ciliary dyskinesia, MONDO:0016575, TUBB4B-related
OMIM
602660
Clinvar variants
Variants in TUBB4B
Penetrance
None
Panels with this gene

History Filter Activity

26 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tubb4b has been classified as Green List (High Evidence).

26 Jul 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TUBB4B were changed from Primary ciliary dyskinesia to Primary ciliary dyskinesia, MONDO:0016575, TUBB4B-related

25 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: tubb4b has been classified as Green List (High Evidence).

25 Jul 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: TUBB4B was added gene: TUBB4B was added to Ciliary Dyskinesia. Sources: Other Mode of inheritance for gene: TUBB4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TUBB4B were set to Primary ciliary dyskinesia Review for gene: TUBB4B was set to GREEN