Gene Symbol:
PPP3CA
HGNC:9314
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
4q24
Filters:

Strong classifications

arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
Submitted as: OMIM:618265
AD
01/14/2019
Evaluated
11/30/2023
Submitted
developmental and epileptic encephalopathy 91
Submitted as: OMIM:617711
AD
12/02/2022
Evaluated
11/30/2023
Submitted

Moderate classifications

developmental and epileptic encephalopathy 91
Submitted as: OMIM:617711
AD
02/21/2018
Evaluated
12/24/2020
Submitted

Supportive classifications

autosomal dominant non-syndromic intellectual disability
Submitted as: Orphanet:178469
AD
09/14/2021
Evaluated
09/14/2021
Submitted
undetermined early-onset epileptic encephalopathy
Submitted as: Orphanet:442835
AD
09/14/2021
Evaluated
09/14/2021
Submitted
arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
Submitted as: Orphanet:565858
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
Submitted as: OMIM:618265
AD
08/22/2024
Evaluated
01/17/2025
Submitted

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