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  3. TUBB2A
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Cerebral vascular malformations

Gene: TUBB2A

Red List (low evidence)
TUBB2A (tubulin beta 2A class IIa)
EnsemblGeneIds (GRCh38): ENSG00000137267
EnsemblGeneIds (GRCh37): ENSG00000137267
OMIM: 615101, Gene2Phenotype
TUBB2A is in 7 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Comment when marking as ready: Not associated with cerebral vascular malformations
Created: 12 Dec 2016, 11:31 a.m.
Not associated with cerebral vascular malformations
Created: 12 Dec 2016, 11:31 a.m.
Created: 12 Dec 2016, 11:31 a.m.

Panel version: 0.18

Details

Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763
  • Complex cortical dysplasia with other brain malformations 5, MONDO:0014337
OMIM
615101
Clinvar variants
Variants in TUBB2A
Penetrance
Complete
Panels with this gene

History Filter Activity

7 Jan 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TUBB2A were changed from Cerebral Malformation Disorders to Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763; Complex cortical dysplasia with other brain malformations 5, MONDO:0014337

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to TUBB2A.

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TUBB2A.

19 Dec 2016, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

12 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

9 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TUBB2A was created by ellenmcdonagh

9 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TUBB2A was added to Cerebrovascular disorderspanel. Sources: UKGTN