Gene Symbol:
TUBB
HGNC:20778
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
6p21.33
Filters:

Definitive classifications

complex cortical dysplasia with other brain malformations 6
Submitted as: OMIM:615771
AD
07/22/2015
Evaluated
09/11/2023
Submitted
multiple benign circumferential skin creases on limbs 1
Submitted as: OMIM:156610
AD
01/03/2016
Evaluated
09/11/2023
Submitted
TUBB3-related tubulinopathy
AD
05/05/2020
Evaluated
09/14/2023
Submitted

Strong classifications

complex cortical dysplasia with other brain malformations 6
Submitted as: OMIM:615771
AD
01/16/2023
Evaluated
11/30/2023
Submitted

Moderate classifications

complex cortical dysplasia with other brain malformations 6
Submitted as: OMIM:615771
AD
02/21/2018
Evaluated
12/24/2020
Submitted
multiple benign circumferential skin creases on limbs 1
Submitted as: OMIM:156610
AD
02/21/2018
Evaluated
12/24/2020
Submitted

Supportive classifications

multiple benign circumferential skin creases on limbs
Submitted as: Orphanet:2505
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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