Gene Symbol:
ACTB
HGNC:132
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
7p22.1
Filters:

Definitive classifications

Baraitser-Winter syndrome 1
Submitted as: OMIM:243310
AD
08/21/2017
Evaluated
09/11/2023
Submitted
Baraitser-Winter cerebrofrontofacial syndrome
AD
10/26/2021
Evaluated
04/21/2024
Submitted

Strong classifications

Baraitser-Winter syndrome 1
Submitted as: OMIM:243310
AD
01/18/2021
Evaluated
03/09/2021
Submitted
developmental malformations-deafness-dystonia syndrome
Submitted as: OMIM:607371
AD
10/09/2020
Evaluated
11/09/2020
Submitted
developmental malformations-deafness-dystonia syndrome
Submitted as: OMIM:607371
AD
02/18/2021
Evaluated
03/31/2021
Submitted
Baraitser-Winter syndrome 1
Submitted as: OMIM:243310
AD
02/18/2021
Evaluated
03/31/2021
Submitted
Baraitser-Winter syndrome 1
Submitted as: OMIM:243310
AD
01/05/2022
Evaluated
11/30/2023
Submitted
developmental malformations-deafness-dystonia syndrome
Submitted as: OMIM:607371
AD
11/21/2022
Evaluated
11/30/2023
Submitted

Moderate classifications

ACTB-associated syndromic thrombocytopenia
AD
05/25/2022
Evaluated
04/21/2024
Submitted

Supportive classifications

Baraitser-Winter cerebrofrontofacial syndrome
Submitted as: Orphanet:2995
AD
09/14/2021
Evaluated
09/14/2021
Submitted
developmental malformations-deafness-dystonia syndrome
Submitted as: Orphanet:79107
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

developmental malformations-deafness-dystonia syndrome
Submitted as: OMIM:607371
AD
09/03/2019
Evaluated
10/15/2020
Submitted
Illumina
Evidence: The ACTB gene was first reported in relation to autosomal dominant juvenile onset dystonia in 2006 (... Read more

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