Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary arterial hypertension v4.4 | CAPNS1 | Arina Puzriakova Tag watchlist tag was added to gene: CAPNS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary arterial hypertension v4.4 | CAPNS1 | Arina Puzriakova Classified gene: CAPNS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary arterial hypertension v4.4 | CAPNS1 | Arina Puzriakova Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary arterial hypertension v4.4 | CAPNS1 | Arina Puzriakova Gene: capns1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary arterial hypertension v4.3 | CAPNS1 | Arina Puzriakova Publications for gene: CAPNS1 were set to PMID:38230350 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary arterial hypertension v4.2 | CAPNS1 | Arina Puzriakova Phenotypes for gene: CAPNS1 were changed from pulmonary arterial hypertension to Pulmonary hypertension, primary, 6, OMIM:620777 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary arterial hypertension v3.5 | CAPNS1 |
Dmitrijs Rots 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 Added comment: PMID:38230350 describes two independent families with three affected individuals with homozygous variants segregating in the family with the phenotype + some functional evidence. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||