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

ACTB-associated syndromic thrombocytopenia classifications

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

Baraitser-Winter cerebrofrontofacial syndrome classifications

Baraitser-Winter cerebrofrontofacial syndrome
Submitted as: Orphanet:2995
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Baraitser-Winter cerebrofrontofacial syndrome
AD
10/26/2021
Evaluated
04/21/2024
Submitted

Baraitser-Winter syndrome 1 classifications

Baraitser-Winter syndrome 1
Submitted as: OMIM:243310
AD
01/18/2021
Evaluated
03/09/2021
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
08/21/2017
Evaluated
09/11/2023
Submitted
Baraitser-Winter syndrome 1
Submitted as: OMIM:243310
AD
01/05/2022
Evaluated
11/30/2023
Submitted

Developmental malformations-deafness-dystonia syndrome 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
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
developmental malformations-deafness-dystonia syndrome
Submitted as: Orphanet:79107
AD
09/14/2021
Evaluated
09/14/2021
Submitted
developmental malformations-deafness-dystonia syndrome
Submitted as: OMIM:607371
AD
11/21/2022
Evaluated
11/30/2023
Submitted

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.