Skeletal dysplasia
Gene: PDE3AEnsemblGeneIds (GRCh38): ENSG00000172572
EnsemblGeneIds (GRCh37): ENSG00000172572
OMIM: 123805, Gene2Phenotype
PDE3A is in 3 panels
3 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Brachydactylies (with extraskeletal manifestations) gp of SD - >3 cases. missense variants clustered in exon 4; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypertension and brachydactyly syndrome, 112410
Publications
Mode of pathogenicity
Other - please provide details in the comments
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PDE3A; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Rachel Jones (GSTT)
Mutations appear to be gain of function missense as per PMID 25961942*. 6 missense variants identified in unrelated families with dominant hypertension with brachydactyly (HTNB)
*Article link https://www.nature.com/articles/ng.3302
The article PMID: 9696728 gives more information about the clinical phenotype - their Canadian and American families showed linkage to an area of chromosome 12p containing PDE3A, as had a previous Turkish family.
http://annals.org/aim/fullarticle/711593/families-autosomal-dominant-brachydactyly-type-e-short-stature-severe-hypertension.
Sources: LiteratureCreated: 10 Sep 2018, 3:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypertension and brachydactyly syndrome 112410
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Hypertension and brachydactyly syndrome, 112410
- OMIM
- 123805
- Clinvar variants
- Variants in PDE3A
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Hypertension and brachydactyly syndrome, 112410 for gene: PDE3A
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to PDE3A. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: PDE3A were changed from Hypertension and brachydactyly syndrome 112410 to Hypertension and brachydactyly syndrome, 112410
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: PDE3A were set to PMID: 25961942; 9696728
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: pde3a has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Rachel Jones (GSTT)gene: PDE3A was added gene: PDE3A was added to Unexplained skeletal dysplasia. Sources: Literature Mode of inheritance for gene: PDE3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDE3A were set to PMID: 25961942; 9696728 Phenotypes for gene: PDE3A were set to Hypertension and brachydactyly syndrome 112410 Penetrance for gene: PDE3A were set to Complete Mode of pathogenicity for gene: PDE3A was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: PDE3A was set to GREEN