Arthrogryposis
Gene: PPP3CAEnsemblGeneIds (GRCh38): ENSG00000138814
EnsemblGeneIds (GRCh37): ENSG00000138814
OMIM: 114105, Gene2Phenotype
PPP3CA is in 5 panels
1 review
Chirag Patel (Genetic Health Queensland)
2 unrelated patients with arthrogryposis, cleft palate, craniosynostosis, micrognathia, short stature, and impaired intellectual development. Whole-exome sequencing (+ Sanger confirmation) found de novo heterozygous mutations in the autoinhibitory domain of PPP3CA gene. Using a yeast model, the mutations were found to be constitutively activating.
Sources: Expert listCreated: 22 Mar 2023, 11:41 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM #618265
Publications
- PMID: 29432562
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM #618265
- OMIM
- 114105
- Clinvar variants
- Variants in PPP3CA
- Penetrance
- None
- Publications
-
- PMID: 29432562
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ppp3ca has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: ppp3ca has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: PPP3CA was added gene: PPP3CA was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: PPP3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPP3CA were set to PMID: 29432562 Phenotypes for gene: PPP3CA were set to Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM #618265 Review for gene: PPP3CA was set to GREEN