Pulmonary arterial hypertension
Gene: CAPNS1EnsemblGeneIds (GRCh38): ENSG00000126247
EnsemblGeneIds (GRCh37): ENSG00000126247
OMIM: 114170, Gene2Phenotype
CAPNS1 is in 1 panel
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Rating Amber with watchlist tag - 2 unrelated cases (2 Tunisian sibs, 1 Dutch man) have been identified with homozygous variants in this gene and severe pulmonary arterial hypertension. RNA sequencing demonstrated aberrant splicing resulting in the complete absence of the CAPNS1 protein in affected patients. Additional case required before promotion to Green.Created: 18 Jun 2025, 10:31 a.m. | Last Modified: 18 Jun 2025, 10:31 a.m.
Panel Version: 4.4
Dmitrijs Rots (Children's Clinical University Hospital)
PMID:38230350 describes two independent families with three affected individuals with homozygous variants segregating in the family with the phenotype + some functional evidence.
Sources: LiteratureCreated: 26 Jun 2024, 5:29 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
pulmonary arterial hypertension
Publications
- PMID:38230350
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Pulmonary hypertension, primary, 6, OMIM:620777
- Tags
- OMIM
- 114170
- Clinvar variants
- Variants in CAPNS1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag watchlist tag was added to gene: CAPNS1.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: capns1 has been classified as Amber List (Moderate Evidence).
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CAPNS1 were set to PMID:38230350
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CAPNS1 were changed from pulmonary arterial hypertension to Pulmonary hypertension, primary, 6, OMIM:620777
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Dmitrijs Rots (Children's Clinical University Hospital)gene: CAPNS1 was added gene: CAPNS1 was added to Pulmonary arterial hypertension. Sources: Literature Mode of inheritance for gene: CAPNS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAPNS1 were set to PMID:38230350 Phenotypes for gene: CAPNS1 were set to pulmonary arterial hypertension Review for gene: CAPNS1 was set to GREEN