Full data view for gene PLG

Information The variants shown are described using the NM_000301.3 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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+/+ 9 c.988A>G r.(?) p.(Lys330Glu) Both (homozygous) ACMG pathogenic g.161139762A>G g.160718730A>G - - PLG_000045 Homozygous carrier of p.(Lys330Glu) displays an abnormal glycosylation pattern with ~60% of PLG type I and ~40% of PLG type II. Homozygous or heterozygous (n = 8) carriers of p.(Lys330Glu) display a significantly high susceptibility to zymogen activation by streptokinase and urokinase. Journal: Germenis 2018 Journal: Parsopoulou 2020 ClinVar-RCV001507288.6 rs889957249 Germline yes 0.00003 (gnomAD); 0.000004 (1/251070, GnomAD_exome) - - - DNA SEQ-NG-IT blood - HAE4 - Journal: Germenis 2018 First family with a homozygous proband for a c.988A>G variant and 3 heterozygous carriers, incl one symptomatic female individual - - Greece - - - - - 4 Christian Drouet
+/+ 9 c.988A>G r.(?) p.(Lys330Glu) Unknown ACMG pathogenic g.161139762A>G g.160718730A>G - - PLG_000045 - Journal: Bodian 2019 - - Germline/De novo (untested) ? 0.000004 (1/251070, GnomAD_exome) - - - DNA SEQ-NG-I blood - HAE4 - Journal: Bodian 2019 - F - United States - - - - - 1 Christian Drouet
+/+ 9 c.988A>G r.(?) p.(Lys330Glu) Unknown ACMG pathogenic g.161139762A>G g.160718730A>G - - PLG_000045 - Journal: Recke 2019 - - Germline ? 0.000004 (1/251070, GnomAD_exome) - - - DNA SEQ blood - HAE4 - Journal: Recke 2019 - - no Germany - - - - - 6 Christian Drouet
+/+ 9 c.988A>G r.(?) p.(Lys330Glu) Unknown ACMG pathogenic g.161139762A>G g.160718730A>G - - PLG_000045 - Journal: Belbezier 2018 - - Germline yes 0.000004 (1/251070, GnomAD_exome) - - - DNA SEQ blood - HAE4 - Journal: Belbezier 2018 Three kindreds have been reported as carrying a c.988A>G variant, with 12 affected individuals - no France - - - - - 12 Christian Drouet
+/+ 9 c.988A>G r.(?) p.(Lys330Glu) Unknown ACMG pathogenic g.161139762A>G g.160718730A>G - - PLG_000045 - Journal: Farkas 2021 ClinVar-RCV001507288.6 rs889957249 Germline no 0.000004 (gnomAD_exome) - - - DNA SEQ blood - HAE4 - Journal: Farkas 2021 Hungarian pedigree with a single symptomatic carrier of a c.988A>G variant in the PLG gene F - Hungary - - - - - 1 Christian Drouet
+/+ 9 c.988A>G r.(?) p.(Lys330Glu) Unknown ACMG pathogenic g.161139762A>G g.160718730A>G - - PLG_000045 - Journal: Yakushiji 2018 ClinVar-RCV001507288.6 rs889957249 Germline ? 0.000004 (1/251070, GnomAD_exome) - - - DNA SEQ blood - HAE4 - Journal: Yakushiji 2018 Two Japanese pedigrees have been found as carrying a c.988A>G variant in the PLG gene Family 1 (n=2) Family 2 (n=2) - - Japan - - - - - 4 Christian Drouet
+/+ 9 c.988A>G r.(?) p.(Lys330Glu) Unknown ACMG pathogenic g.161139762A>G g.160718730A>G - - PLG_000045 The proband is also carrier of a c.931T>C;p.(Cys311Arg) variant in the CPN1 gene, predicted as deleterious Journal: Germenis 2018 ClinVar-RCV001507288.6 rs889957249 Germline/De novo (untested) ? 0.000004 (1/251070, GnomAD_exome) - - - DNA SEQ-NG-IT blood - HAE4 - Journal: Germenis 2018 - F - Bulgaria - - - - - 1 Christian Drouet
+/+ 9 c.988A>G r.(?) p.(Lys330Glu) Unknown ACMG pathogenic g.161139762A>G g.160718730A>G - - PLG_000045 - Journal: Manto 2021 ClinVar-RCV001507288.6 - Germline yes - - - - DNA SEQ blood - HAE4 - Journal: Manto 2021 10 families, with 14 affected carriers, have been reported as carrying a PLG variant c.988A>G - - Russia - - - - - 14 Christian Drouet
+/. 9 c.988A>G r.(?) p.(Lys330Glu) Unknown ACMG pathogenic g.161139762A>G g.160718730A>G c.1100A>G - PLG_000045 The variant has been erroneously identified in the 3 families as c.1100A>G Journal: Dewald 2018 ClinVar-SCV002762862 rs889957249 Germline yes 0.00000708 - - - DNA SEQ blood - HAE4 Fam1-3 Journal: Dewald 2018 Three independent pedigrees have been shown as carrying the variant Family 1 (n=9), Family 2 (n=4), Family 3 (n=9) F - Germany - - - - - 22 Christian Drouet
+/+ 9 c.988A>G r.(?) p.(Lys330Glu) Unknown ACMG pathogenic g.161139762A>G g.160718730A>G - - PLG_000045 A single female individuals carrying a c.988A>G variant Journal: Nakayama 2023 ClinVar-SCV002762862 rs889957249 Germline - 0.0000029 - - - DNA SEQ blood - HAE4 - Journal: Nakayama 2023 Single individual F no Japan - - - - - 1 Christian Drouet
+/+ 9 c.988A>G r.(?) p.(Lys330Glu) Unknown ACMG pathogenic g.161139762A>G g.160718730A>G - - PLG_000045 - Journal: Katelaris 2023 - rs889957249 Germline yes - - - - DNA SEQ blood - HAE4 - Journal: Katelaris 2023 - F - Brazil white (Italy) - - - - 2 Christian Drouet
+/+ 9 c.988A>G r.(?) p.(Lys330Glu) Unknown ACMG pathogenic g.161139762A>G g.160718730A>G - - PLG_000045 Treatment of attacks by tranexamic acid Journal: Friedman 2023 - - Germline yes - - - - DNA SEQ blood - HAE4 - Journal: Friedman 2023 A US family with a female proband is presenting with macroglossia, a mother with peripheral angioedema and a son died because of airway obstruction F - United States - - - - - 3 Christian Drouet
+/+ 9 c.988A>G r.(?) p.(Lys330Glu) Maternal (inferred) ACMG pathogenic g.161139762A>G g.160718730A>G - - PLG_000045 third japanese pedigree carrying c.988A>G variant and presenting with angioedema attacks; 3 carriers (1 female, 2 male) are asymptomatic PubMed: Yakushiji 2023, Journal: Yakushiji 2023 ClinVar-RCV001507288.6 rs889957249 Germline yes 0.0000029 - - - DNA SEQ blood - HAE4 FamPatII1 PubMed: Yakushiji 2023, Journal: Yakushiji 2023 3-generation family, 5 affected (4 female, 1 male); 3 carriers (1 female, 2 male) are asymptomatic F no Japan - - - - - 5 Christian Drouet
+/+ 9 c.988A>G r.(?) p.(Lys330Glu) Maternal (confirmed) ACMG pathogenic g.161139762A>G g.160718730A>G - - PLG_000045 Compound heterozygous proband carrying PLG c.988A>G;p.(Lys330Glu) and F12 c.1681-1G>A variants Journal: Hintze 2023 ClinVar-RCV001507288.6 rs889957249 Germline yes 0.00003 (gnomAD); 0.000004 (1/251070, GnomAD_exome) - - - DNA SEQ blood - HAE4 - Journal: Hintze 2023 A female proband carrying both variants PLG c.988A>G;p.(lys330Glu) and F12 c.1681-1G>A; 6 compound heterozygous affected individuals, 2 heterozygous affected individuals carrying a PLG variant F - Germany - - - - - 8 Christian Drouet
+/+ 9 c.988A>G r.(?) p.(Lys330Glu) Unknown ACMG pathogenic g.161139762A>G g.160718730A>G - - PLG_000045 - Journal: Rozevska 2024 - - Germline yes - - - - DNA SEQ blood - HAE4 - Journal: Rozevska 2024 - - no Latvia - - - - - 1 Christian Drouet
+/+ 9 c.988A>G r.(?) p.(Lys330Glu) Unknown ACMG pathogenic g.161139762A>G g.160718730A>G - - PLG_000045 - Journal: Adatia 2024 - - Germline - - - - - DNA SEQ blood - HAE4 - Journal: Adatia 2024 - - - Canada - - - - - 2 Christian Drouet
+/+ 9 c.988A>G r.(?) p.(Lys330Glu) Unknown ACMG pathogenic g.161139762A>G g.160718730A>G - - PLG_000045 - Journal: Sugimoto 2025 ClinVar-RCV001507288.8 rs889957249 Germline yes 0.0000029 - - - DNA SEQ - - HAE4 - Journal: Sugimoto 2025 Single female individual affected F no Japan - - - - - 1 Christian Drouet
+/+ 9 c.988A>G r.(?) p.(Lys330Glu) Unknown ACMG pathogenic g.161139762A>G g.160718730A>G - - PLG_000045 Two affected sisters Journal: Sugimoto 2025 ClinVar-RCV001507288.6 rs889957249 Germline yes 0.000004 - - - DNA SEQ blood - HAE4 - Journal: Sugimoto 2025 A single family with two affected sisters F no Japan - - - - - 2 Christian Drouet
+/+ 9 c.988A>G r.(?) p.(Lys330Glu) Unknown ACMG pathogenic g.161139762A>G g.160718730A>G - - PLG_000045 - Journal: Purina 2023 ClinVar-RCV001507288.6 rs889957249 Germline/De novo (untested) - - - - - DNA SEQ - - HAE4 - Journal: Purina 2023 The first HAE-nC1INH patient from Latvia with identified pathogenic variant in the PLG gene. F no Latvia - - - - - 1 Christian Drouet
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