1. Panels
  2. Pulmonary Arterial Hypertension
  3. CAPNS1
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Pulmonary Arterial Hypertension

Gene: CAPNS1

Amber List (moderate evidence)
CAPNS1 (calpain small subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000126247
EnsemblGeneIds (GRCh37): ENSG00000126247
OMIM: 114170, Gene2Phenotype
CAPNS1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Three individuals from two families reported with homozygous splice site variants.
Sources: Expert list
Created: 3 Apr 2024, 9:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary pulmonary arterial hypertension MONDO:0017148, CAPNS1-related

Publications

Created: 3 Apr 2024, 9:05 p.m.

Panel version: 1.36

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Hereditary pulmonary arterial hypertension MONDO:0017148, CAPNS1-related
OMIM
114170
Clinvar variants
Variants in CAPNS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Apr 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: capns1 has been classified as Amber List (Moderate Evidence).

3 Apr 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: capns1 has been classified as Amber List (Moderate Evidence).

3 Apr 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CAPNS1 was added gene: CAPNS1 was added to Pulmonary Arterial Hypertension. Sources: Expert list Mode of inheritance for gene: CAPNS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAPNS1 were set to 38230350 Phenotypes for gene: CAPNS1 were set to Hereditary pulmonary arterial hypertension MONDO:0017148, CAPNS1-related Review for gene: CAPNS1 was set to AMBER