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  3. TUBB
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Structural eye disease

Gene: TUBB

Amber List (moderate evidence)
TUBB (tubulin beta class I)
EnsemblGeneIds (GRCh38): ENSG00000196230
EnsemblGeneIds (GRCh37): ENSG00000196230
OMIM: 191130, Gene2Phenotype
TUBB is in 11 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

I don't know

OMIM: 1 out of 3 unrelated patients with CDCBM6 and de novo heterozygous missense mutations in TBB also had microphthalmia and retinal dysplasia. Microcornea/microphthalmia also reported as rare features of CSCSC1 (Leonard 2002). They report three families with variants in TUBB, one case has microphthalmia, variant is de novo
Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91

Publications

Created: 2 Oct 2019, 3:48 p.m.
Last Modified: 2 Oct 2019, 3:48 p.m.
Panel version: 0.91

Mariya Moosajee (Moorfields Eye Hospital)

Green List (high evidence)

Phenotypes
Skin Creases, Congenital Symmetric Circumferential, 2, CSCSC2

Created: 23 Apr 2019, 2:12 p.m.

Panel version: 0.60

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Skin Creases, Congenital Symmetric Circumferential, 2, CSCSC2, 156610
OMIM
191130
Clinvar variants
Variants in TUBB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Oct 2019, Gel status: 2

Added New Source, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TUBB. Publications for gene TUBB were changed from to 26637975

16 Sep 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to TUBB. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

23 Apr 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: TUBB was added gene: TUBB was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: TUBB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TUBB were set to Skin Creases, Congenital Symmetric Circumferential, 2, CSCSC2, 156610