Prepair 1000+

Gene: PLG

Green List (high evidence)

Can cause severe childhood presentation.

Created: 17 Aug 2022, 6:47 a.m. | Last Modified: 17 Aug 2022, 6:47 a.m.

Panel Version: 0.134

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Plasminogen deficiency, type I, MIM# 217090

I don't know

2 AR conditions associated with PLG; Type I plasminogen deficiency and type II plasminogen deficiency, also known as 'dysplasminogenemia'. Patients with type II deficiency are usually asymptomatic (OMIM). The most common clinical manifestation is ligneous conjunctivitis. Other neurological manifestations such as hydrocephalus and Dandy Walker malformation can also be present in some patients

PMID: 21174000: Phenotype shows inter- and intra- familial variability. Residual PLG activity does not always correlate with clinical severity

AR condition can be associated with severe, early onset presentation

Created: 19 Jul 2022, 11:40 p.m. | Last Modified: 19 Jul 2022, 11:40 p.m.

Panel Version: 0.50

Phenotypes
Angioedema, hereditary, 4 (MIM#619360); Dysplasminogenemia (MIM#217090); Plasminogen deficiency, type I (MIM#217090)

Publications

• 9242524
• 35244080