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| Prepair 1000+ v0.135 | PLG | Zornitza Stark Marked gene: PLG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.135 | PLG | Zornitza Stark Gene: plg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.135 | PLG | Zornitza Stark Publications for gene: PLG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.134 | PLG | Zornitza Stark Tag for review was removed from gene: PLG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.134 | PLG | Zornitza Stark reviewed gene: PLG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Plasminogen deficiency, type I, MIM# 217090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.54 | PLG | Zornitza Stark Tag for review tag was added to gene: PLG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.50 | PLG |
Crystle Lee changed review comment from: 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; to: 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 |
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| Prepair 1000+ v0.50 | PLG | Crystle Lee reviewed gene: PLG: Rating: AMBER; Mode of pathogenicity: None; Publications: 9242524, 35244080; Phenotypes: Angioedema, hereditary, 4 (MIM#619360), Dysplasminogenemia (MIM#217090), Plasminogen deficiency, type I (MIM#217090); Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | PLG |
Zornitza Stark gene: PLG was added gene: PLG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PLG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLG were set to Plasminogen deficiency, type I, 217090 (3) |
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