Full data view for gene PKLR

Information The variants shown are described using the NM_000298.5 transcript reference sequence.

1384 entries on 14 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. _1 - - r.(?) p.(=) Parent #1 - likely pathogenic (recessive) g.155271256T>G g.155301465T>G c.-70A>C - PKLR_000062 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat17 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. _1 - - r.(?) p.(=) Parent #1 - pathogenic (recessive) g.155271435del g.155301644del c.-249delA - PKLR_000062 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat192 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. _1 - - r.(?) p.(=) Parent #1 - pathogenic (recessive) g.155271435del g.155301644del c.-249delA - PKLR_000062 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat205 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+?/. _1 - - r.(?) p.(=) Parent #1 - likely pathogenic (recessive) g.155271269C>G g.155301478C>G c.-83G>C - PKLR_000076 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat254 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. _1 - - r.(?) p.(=) Parent #2 - pathogenic (recessive) g.155271435del g.155301644del c.-249delA - PKLR_000062 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat163 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. _1 - - r.(?) p.(=) Unknown - NA g.155271277A>T g.155301486A>T c.-91T>A - PKLR_000062 in vitro expression K562 cells shows normal promoter activity PubMed: Van Wijk 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. _1 - - r.(?) p.(=) Unknown - NA g.155271276G>A g.155301485G>A c.-90C>T - PKLR_000062 in vitro expression K562 cells shows normal promoter activity PubMed: Van Wijk 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. _1 - - r.=|inc p.=|inc Unknown - NA g.155271275A>C g.155301484A>C c.-89T>G - PKLR_000062 in vitro expression K562 cells shows increased promoter activity (1.3) PubMed: Van Wijk 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. _1 - - r.=|inc p.=|inc Unknown - NA g.155271274A>C g.155301483A>C c.-88T>G - PKLR_000062 in vitro expression K562 cells shows increased promoter activity (1.5) PubMed: Van Wijk 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. _1 - - r.=|red p.=|red Unknown - NA g.155271273G>T g.155301482G>T c.-87C>A - PKLR_000062 in vitro expression K562 cells shows significantly reduced promoter activity (0.5) PubMed: Van Wijk 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. _1 - - r.=|red p.=|red Unknown - NA g.155271272A>C g.155301481A>C c.-86T>G - PKLR_000062 in vitro expression K562 cells shows significantly reduced promoter activity (0.3) PubMed: Van Wijk 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. _1 - - r.=|red p.=|red Unknown - NA g.155271271G>T g.155301480G>T c.-85C>A - PKLR_000062 in vitro expression K562 cells shows significantly reduced promoter activity (0.3) PubMed: Van Wijk 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. _1 - - r.=|red p.=|red Unknown - NA g.155271270A>C g.155301479A>C c.-84T>G - PKLR_000062 in vitro expression K562 cells shows significantly reduced promoter activity (0.1) PubMed: Van Wijk 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. _1 - - r.(?) p.(=) Unknown - NA g.155271268A>C g.155301477A>C c.-82T>G - PKLR_000062 in vitro expression K562 cells shows normal promoter activity PubMed: Van Wijk 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. _1 - - r.=|red p.=|red Unknown - NA g.155271267G>T g.155301476G>T c.-81C>A - PKLR_000062 in vitro expression K562 cells shows reduced promoter activity (0.8) PubMed: Van Wijk 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. _1 - - r.=|inc p.=|inc Unknown - NA g.155271266A>C g.155301475A>C c.-80T>G - PKLR_000062 in vitro expression K562 cells shows increased promoter activity (1.3) PubMed: Van Wijk 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. _1 - - r.=|red p.=|red Unknown - NA g.155271265G>A g.155301474G>A c.-79C>T - PKLR_000062 in vitro expression K562 cells shows reduced promoter activity (0.7) PubMed: Van Wijk 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. _1 - - r.(?) p.(=) Unknown - NA g.155271264G>A g.155301473G>A c.-78C>T - PKLR_000062 in vitro expression K562 cells shows normal promoter activity PubMed: Van Wijk 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. _1 - - r.(?) p.(=) Unknown - likely benign g.155271691del g.155301900del c.-503del - PKLR_000062 - PubMed: Berghout 2012 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Berghout 2012 analysis 387 individuals from malaria-endemic and other regions - - - - - - - - 1 Johan den Dunnen
-?/. _1 - - r.(?) p.(=) Unknown - likely benign g.155271550A>G g.155301759A>G c.-364T>C - PKLR_000062 - PubMed: Berghout 2012 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Berghout 2012 analysis 387 individuals from malaria-endemic and other regions - - - - - - - - 1 Johan den Dunnen
+/. 11i_12_ c.(1618+1_1619-1)_*1279{0} - r.? p.? Both (homozygous) - pathogenic (recessive) g.(?_155259084)_(155260470_155261546)del g.(?_155289293)_(155290679_155291755)del del ex11 - PKLR_000311 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat255 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11i_12_ c.(1618+1_1619-1)_*1279{0} - r.? p.? Both (homozygous) - pathogenic (recessive) g.(?_155259084)_(155260470_155261546)del g.(?_155289293)_(155290679_155291755)del del ex11 - PKLR_000311 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat256 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. - c.(c.-39_*1279)del - r.? p.? Parent #1 - pathogenic (recessive) g.(?_155259084)_(155271225_?)del g.(?_155289293)_(155301434_?)del large deletion - PKLR_000312 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat161 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. - c.-156G>C - r.(?) p.(=) Unknown - pathogenic g.155271342C>G g.155301551C>G - - PKLR_000244 erythroid-specific promoter Manco and Ribeiro, unpublished - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency - - - - - Spain - - - - - 1 Richard van Wijk
-/. - c.-148C>T - r.(?) p.(=) Unknown - benign g.155271334G>A g.155301543G>A PKLR(NM_000298.6):c.-148C>T - PKLR_000299 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-117G>T - r.(?) p.(=) Unknown - likely benign g.155271303C>A g.155301512C>A PKLR(NM_000298.6):c.-117G>T - PKLR_000298 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-82G>C - r.(?) p.(=) Unknown - pathogenic g.155271268C>G - - - PKLR_000243 PK type Hamburg Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. Kugler 2002 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency - - - - - Germany - - - - - 1 Richard van Wijk
+/. - c.-71A>G - r.(?) p.(=) Maternal (confirmed) - pathogenic g.155271257T>C - -72A>G - PKLR_000135 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Coutinho et al. 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency - - - - - Portugal - - - - - 1 Richard van Wijk
-?/. _1 - - r.0 p.0 Maternal (confirmed) - likely benign g.155271510A>T g.155301719A>T -324T>A - PKLR_000075 not in 100 control chromosomes; allele not detecably expressed PubMed: Van Wijk 2003 - - Germline - - BstXI - - DNA, RNA RT-PCR, SEQ - - pyr.kin. deficiency Pat1 PubMed: Van Wijk 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Denmark - - - - - 1 Richard van Wijk
?/. _1 - - r.(=) p.(=) Parent #2 - likely benign g.155271434del g.155301643del -248delT - PKLR_000074 since the individuals are not affected, variant suggested not to be deleterious PubMed: Van Wijk 2003 - - Germline - - - - - DNA SEQ - - Healthy/Control carriers PubMed: Van Wijk 2003 4 unaffected compound heterozygous carriers - - Denmark - - - - - 4 Richard van Wijk
?/. _1 - - r.0 p.0 Maternal (confirmed) - benign (!) g.155271434del g.155301643del -248delT - PKLR_000074 allele not detectably expressed PubMed: Van Wijk 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - pyr.kin. deficiency Pat1 PubMed: Van Wijk 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Denmark - - - - - 1 Richard van Wijk
-?/. _1 - - r.(?) p.(=) Parent #1 - likely benign g.155271434del g.155301643del -248delT - PKLR_000074 34/241 heterozygous control PubMed: Van Wijk 2003 - - Germline - 34/241 controls - - - DNA PCR, ASO - - Healthy/Control control PubMed: Van Wijk 2003 analysis 241 controls - - Denmark - - - - - 34 Richard van Wijk
-?/. _1 - - r.(?) p.(?) Both (homozygous) - likely benign g.155271434del g.155301643del -248delT - PKLR_000074 - PubMed: Van Wijk 2003 - - Germline - 1/241 controls - - - DNA PCR, ASO - - Healthy/Control control PubMed: Van Wijk 2003 analysis 241 controls - - Denmark - - - - - 1 Richard van Wijk
?/. _1 - - r.(?) p.(?) Parent #2 - VUS g.155271434del g.155301643del -248delT - PKLR_000074 Van Wijk wonders whther variant is described correctly PubMed: Pissard 2006 - - Germline - - - - - DNA DHPLC, SEQ - - pyr.kin. deficiency Fam4 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
?/. _1 - - r.(?) p.(=) Parent #1 - VUS g.155271295G>A - -109C>T - PKLR_000132 Van Wijk wonders whether variant -148C>T is meant; no variant 2nd chromosome PubMed: Pissard 2006, PubMed: Van Wijk 2007 - - Germline - - - - - DNA DHPLC, SEQ - - pyr.kin. deficiency Fam54 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. _1 - - r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.155271269C>G g.155301478C>G -83G>C - PKLR_000076 not in 100 control chromosomes; allele not detecably expressed PubMed: Van Wijk 2003 - - Germline - - BsmAI - - DNA, RNA RT-PCR, SEQ - - pyr.kin. deficiency Pat1 PubMed: Van Wijk 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Denmark - - - - - 1 Richard van Wijk
+/. _1 - - r.(?) p.(=) Parent #1 - pathogenic (recessive) g.155271259C>G g.155301468C>G -73G>C - PKLR_000201 variant affects erythroid-specific promoter PubMed: Marcello 2008 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency patient PubMed: Marcello 2008 - M - Italy - - - - - 1 Richard van Wijk
+/. _1 - - r.=|red p.=|red Parent #2 - pathogenic g.155271258T>C g.155301467T>C -72A>G - PKLR_000062 erythroid-specific promoter varaint, reduced mRNA levels (0.2); not in 100 control chromosomes PubMed: Manco 2000 - - Germline - - Bsu36I+ - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat3 PubMed: Manco 2000 - M - Portugal - - - - - 1 Richard van Wijk
+/. _1 - - r.=|red p.=|red Parent #2 - pathogenic (recessive) g.155271258T>C g.155301467T>C -72A>G - PKLR_000062 erythroid-specific promoter varaint, reduced mRNA levels (0.2); not in 100 control chromosomes PubMed: Manco 2000 - - Germline - - Bsu36I+ - - DNA, RNA RT-PCR, SEQ, SSCA - - pyr.kin. deficiency Pat4 PubMed: Manco 2000 - F - Portugal - - - - - 1 Richard van Wijk
+/. _1 - - r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.155271258T>C g.155301467T>C -72A>G - PKLR_000062 erythroid-specific promoter varaint, reduced mRNA levels (0.2); not in 100 control chromosomes PubMed: Manco 2000 - - Germline - - Bsu36I+ - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat1 PubMed: Manco 2000 - M - Portugal - - - - - 1 Richard van Wijk
+/. _1 - - r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.155271258T>C g.155301467T>C -72A>G - PKLR_000062 erythroid-specific promoter varaint, reduced mRNA levels (0.2); not in 100 control chromosomes PubMed: Manco 2000 - - Germline - - Bsu36I+ - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat2 PubMed: Manco 2000 - M - Portugal - - - - - 1 Richard van Wijk
+?/. _1 - - r.=|inc p.=|inc Unknown - NA g.155271434del g.155301643del -248delT - PKLR_000074 in vitro expression K562 cells shows significant increased promoter activity PubMed: Van Wijk 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. _1 - - r.=|red p.=|red Unknown - NA g.155271269C>G g.155301478C>G -83G>C - PKLR_000076 in vitro expression K562 cells shows significantly reduced promoter activity PubMed: Van Wijk 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. _1 - - r.= p.= Unknown - NA g.155271510A>T - -324T>A - PKLR_000062 in vitro expression K562 cells shows normal promoter activity PubMed: Van Wijk 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 - - r.(?) p.(=) Parent #1 - VUS g.155271334G>A - -148T - PKLR_000062 - PubMed: Manco 2001 - - Germline - 0.017 controls - - - DNA SEQ, SSCA - - Healthy/Control controls PubMed: Manco 2001 screen random individuals - - Portugal - - - - - 1 Johan den Dunnen
+/. _1 - - r.=|red p.=|red Parent #2 - pathogenic (recessive) g.155271444del .155301653del -249delA - PKLR_000062 severely reduced mRNA expression (0.06) PubMed: Kugler 1999 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Case3-SS PubMed: Lakomek 1994, PubMed: Kugler 1999 - M - Germany - - - - - 1 Richard van Wijk
-/- 11i c.= - r.(=) p.(=) Unknown - benign g.? - c.1619-361ATT[17] - PKLR_000041 - PubMed: Baronciani and Beutler, 1995 - - Germline - 3/100 - - - DNA PCR - - Healthy/Control control PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 3 Richard van Wijk
?/. - c.92C>T - r.(?) p.(Ala31Val) Unknown - VUS g.155271095G>A - PKLR(NM_000298.6):c.92C>T (p.A31V, p.(Ala31Val)) - HCN3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.92C>T - r.(?) p.(Ala31Val) Parent #1 - likely pathogenic (recessive) g.155271095G>A g.155301304G>A - - HCN3_000006 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat135 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
?/. - c.92C>T - r.(?) p.(Ala31Val) Unknown - VUS g.155271095G>A g.155301304G>A - - HCN3_000006 - PubMed: Berghout 2012 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Berghout 2012 analysis 387 individuals from malaria-endemic and other regions - - - - - - - - 1 Johan den Dunnen
?/. - c.92C>T - r.(?) p.(Ala31Val) Unknown - VUS g.155271095G>A - PKLR(NM_000298.6):c.92C>T (p.A31V, p.(Ala31Val)) - HCN3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.100+10G>A - r.spl p.? Parent #1 - pathogenic g.155271077C>T g.155301286C>T - - PKLR_000130 no variant 2nd chromosome PubMed: Pissard 2006 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Fam48 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. 1i c.100+10G>A - r.spl p.? Parent #1 - pathogenic g.155271077C>T g.155301286C>T - - PKLR_000130 no variant 2nd chromosome PubMed: Pissard 2006 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Fam50 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. 1i c.100+10G>T - r.spl p.? Parent #1 - pathogenic g.155271077C>A g.155301286C>A - - PKLR_000128 no variant 2nd chromosome PubMed: Pissard 2006 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Fam46 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+?/. 1i_3i c.(100+1_100+343)_(100+412_101-1)del - r.? p.? Parent #1 - likely pathogenic (recessive) g.(155270072_155270675)_(155270744_155271086)del g.(155300281_155300884)_(155300953_155301295)del del ex2 - PKLR_000361 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat108 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.101-327T>C - r.(?) p.? Unknown - likely benign g.155270398A>G g.155300607A>G - - PKLR_000421 - PubMed: Berghout 2012 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Berghout 2012 analysis 387 individuals from malaria-endemic and other regions - - - - - - - - 1 Johan den Dunnen
-?/. - c.101-325C>T - r.(?) p.? Unknown - likely benign g.155270396G>A g.155300605G>A - - PKLR_000420 - PubMed: Berghout 2012 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Berghout 2012 analysis 387 individuals from malaria-endemic and other regions - - - - - - - - 1 Johan den Dunnen
-?/. - c.101-201C>T - r.(?) p.? Unknown - likely benign g.155270272G>A g.155300481G>A - - PKLR_000419 - PubMed: Berghout 2012 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Berghout 2012 analysis 387 individuals from malaria-endemic and other regions - - - - - - - - 1 Johan den Dunnen
-?/. - c.101-119del - r.(?) p.? Unknown - likely benign g.155270193del g.155300402del - - PKLR_000418 - PubMed: Berghout 2012 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Berghout 2012 analysis 387 individuals from malaria-endemic and other regions - - - - - - - - 1 Johan den Dunnen
+/. 2i c.101-1G>A - r.spl p.? Parent #1 - pathogenic (recessive) g.155270072C>T g.155300281C>T IVSA-1G>A - PKLR_000165 - PubMed: Lenzner 1994, PubMed: Lenzner 1997 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat8;Pat8 PubMed: Lenzner 1994, PubMed: Lenzner 1997 - - - Czech Republic - - - - - 1 Richard van Wijk
+/. - c.101-1G>A - r.spl p.? Parent #2 - pathogenic (recessive) g.155270072C>T - - - PKLR_000165 - PubMed: Lenzner 1994, PubMed: Lenzner 1997 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat4;Pat4 PubMed: Lenzner 1994, PubMed: Lenzner 1997 - - - Czech Republic - - - - - 1 Richard van Wijk
+/. 3 c.107C>G - r.(?) p.(Ala36Gly) Parent #1 - pathogenic (recessive) g.155270065G>C g.155300274G>C - - PKLR_000001 no variant 2nd chromosome; HB, SH, UC PubMed: Fermo 2005 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat19 PubMed: Fermo 2005 - - - Italy - - - - - 1 Richard van Wijk
-?/. - c.108G>A - r.(?) p.(Ala36=) Unknown - likely benign g.155270064C>T g.155300273C>T - - PKLR_000417 - PubMed: Berghout 2012 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Berghout 2012 analysis 387 individuals from malaria-endemic and other regions - - - - - - - - 1 Johan den Dunnen
+/. - c.109_130del - r.(?) p.(Gly37Trpfs*4) Parent #2 - pathogenic (recessive) g.155270043_155270064del - - - PKLR_000233 - PubMed: Manco 2008 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency patient PubMed: Manco 2008 - - - Portugal - - - - - 1 Richard van Wijk
+/. 3 c.110G>A - r.(?) p.(Gly37Glu) Parent #1 - benign (dominant) g.155270062C>T g.155300271C>T - - PKLR_000176 variant suggested to interfere with phosphorylation of Ser42, inhibiting PK enzymatic activity and accounting for increased enzymatic activity PubMed: Beutler 1997 - - Germline yes - - - - DNA SEQ - - adenosine triphosphate, elevated family PubMed: Beutler 1997, Zürcher 1965 65-member 3-generation family, 29 affected; family also segregating beta-thalassemia F;M - Netherlands - - - - - 29 Richard van Wijk
-?/. - c.111G>T - r.(?) p.(Gly37=) Unknown - likely benign g.155270061C>A - PKLR(NM_000298.6):c.111G>T (p.G37=) - HCN3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.118C>T - r.(?) p.(Arg40Trp) Parent #1 - pathogenic (recessive) g.155270054G>A g.155300263G>A - - PKLR_000002 unknown variant 2nd chromosome PubMed: van Wijk 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat23 PubMed: Van Wijk 2009 - M - Netherlands - - - - - 1 Richard van Wijk
?/. - c.119G>A - r.(?) p.(Arg40Gln) Unknown - VUS g.155270053C>T g.155300262C>T PKLR(NM_000298.6):c.119G>A (p.R40Q) - PKLR_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.119G>A - r.(?) p.(Arg40Gln) Parent #1 - pathogenic g.155270053C>T g.155300262C>T - - PKLR_000003 - {PMID:Van Wijk unpublished} - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency - - - - - China - - - - - 1 Richard van Wijk
+/. 3 c.120del - r.(?) p.(Arg41GlyfsTer7) Parent #2 - pathogenic (recessive) g.155270053del g.155300262del c.119delG - PKLR_000360 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat116 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.129T>C - r.(?) p.(Ser43=) Unknown - likely benign g.155270043A>G - PKLR(NM_000298.6):c.129T>C (p.S43=) - HCN3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.142_159del - r.(?) p.(Thr48_Thr53del) Parent #1 - pathogenic (recessive) g.155270013_155270030del g.155300222_155300239del - - PKLR_000222 - PubMed: Van Wijk 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat26 PubMed: Van Wijk 2009 2-generation family, 2 affected sisters F - Netherlands - - - - - 2 Richard van Wijk
+/. - c.142_159del - r.(?) p.(Thr48_Thr53del) Parent #1 - pathogenic (recessive) g.155270013_155270030del g.155300222_155300239del 142_159del18 - PKLR_000222 - PubMed: Van Wijk 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat27 PubMed: Van Wijk 2009 sister F - Netherlands - - - - - 1 Richard van Wijk
+/. 3 c.142_159del - r.(?) p.(Thr48_Thr53del) Parent #2 - pathogenic (recessive) g.155270013_155270030del g.155300222_155300239del - - PKLR_000222 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat240 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+?/. 3 c.143C>A - r.(?) p.(Thr48Asn) Parent #2 - likely pathogenic (recessive) g.155270029G>T g.155300238G>T - - PKLR_000359 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat16 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.171G>A - r.(?) p.(Gln57=) Unknown - likely benign g.155270001C>T g.155300210C>T - - PKLR_000416 - PubMed: Berghout 2012 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Berghout 2012 analysis 387 individuals from malaria-endemic and other regions - - - - - - - - 1 Johan den Dunnen
+/. 3 c.172C>T - r.(?) p.(Gln58*) Unknown - pathogenic g.155270000G>A g.155300209G>A - - PKLR_000242 - Van Wijk unpublished - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency - - - - - Iran - - - - - 1 Richard van Wijk
+/. 3 c.173_188dup Essen1 r.0 p.0 Parent #1 - pathogenic (recessive) g.155269989_155270004dup g.155300198_155300213dup 183-184ins16bp - PKLR_000194 - PubMed: Kugler 2000 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat1 PubMed: Kugler 2000 - F - Germany - - - - - 1 Richard van Wijk
-?/. - c.181C>T - r.(?) p.(Leu61=) Unknown - likely benign g.155269991G>A g.155300200G>A PKLR(NM_000298.6):c.181C>T (p.L61=) - PKLR_000296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.181C>T - r.(?) p.(Leu61=) Unknown - likely benign g.155269991G>A g.155300200G>A - - PKLR_000296 - PubMed: Berghout 2012 - rs8177962 Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Berghout 2012 analysis 387 individuals from malaria-endemic and other regions - - - - - - - - 1 Johan den Dunnen
+?/. 3 c.187G>A - r.(?) p.(Ala63Thr) Parent #2 - likely pathogenic (recessive) g.155269985C>T g.155300194C>T - - PKLR_000358 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat252 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+?/. 3 c.194T>C - r.(?) p.(Met65Thr) Parent #1 - likely pathogenic (recessive) g.155269978A>G g.155300187A>G - - PKLR_000357 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat251 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. - c.218T>C - r.(?) p.(Leu73Pro) Unknown - pathogenic g.155269954A>G g.155300163A>G PKLR(NM_000298.6):c.218T>C (p.L73P) - PKLR_000295 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.218T>C - r.(?) p.(Leu73Pro) Parent #1 - pathogenic (recessive) g.155269954A>G g.155300163A>G - - PKLR_000005 DS, SI(NA), {PKLR:73pro} PubMed: van Wijk 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat30 PubMed: Van Wijk 2009 - M - Czech Republic - - - - - 1 Richard van Wijk
+?/. - c.224T>C - r.(?) p.(Leu75Pro) Maternal (confirmed) ACMG likely pathogenic (recessive) g.155269948A>G g.155300157A>G - - PKLR_000423 ACMG PM1, PM2, PP2, PP3 PubMed: Marinakis 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? 20011 PubMed: Marinakis 2021 - F - Greece - - - - - 1 Jan Traeger-Synodinos
+/. 3 c.227_231del - r.(?) p.(Leu76Hisfs*2) Parent #1 - pathogenic g.155269943_155269947del g.155300152_155300156del - - PKLR_000050 no variant 2nd chromosome PubMed: Zanella 1997 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency SI PubMed: Zanella 1997 - F - Italy - - - - - 1 Richard van Wijk
+/. - c.227_231del - r.(?) p.(Leu76HisfsTer2) Parent #1 - pathogenic (recessive) g.155269943_155269947del g.155300152_155300156del del227-231 - PKLR_000050 - PubMed: Zanella 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat7 PubMed: Zanella 2007 - F - Italy - - - - - 1 Johan den Dunnen
+/. 3 c.238T>C - r.238u>c p.Ser80Pro Parent #1 - pathogenic (recessive) g.155269934A>G g.155300143A>G - - PKLR_000006 HB, SH, {PKLR:80pro} PubMed: Uenaka 1995 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - pyr.kin. deficiency patient PubMed: Uenaka 1995 - M - Japan - - - - - 1 Richard van Wijk
+/. 3 c.238T>C - r.(?) p.(Ser80Pro) Parent #1 - pathogenic (recessive) g.155269934A>G g.155300143A>G - - PKLR_000006 HB, SH, {PKLR:80pro} PubMed: Kugler 2000 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat2 PubMed: Kugler 2000 - F - Germany - - - - - 1 Richard van Wijk
+/. 3 c.245C>A - r.(?) p.(Pro82His) Unknown - pathogenic g.155269927G>T g.155300136G>T - - PKLR_000226 - PubMed: Finkenstedt 2008 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency - - - - - Italy - - - - - 1 Richard van Wijk
+/. 3 c.245C>A - r.(?) p.(Pro82His) Parent #2 - pathogenic (recessive) g.155269927G>T g.155300136G>T - - PKLR_000226 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat87 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.246del - r.(?) p.(Val83Trpfs*25) Both (homozygous) - pathogenic (recessive) g.155269928del g.155300137del delC244 - PKLR_000089 - PubMed: Fermo 2005, PubMed: Zanella 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat12; Pat5 PubMed: Fermo 2005, PubMed: Zanella 2007 - M - Oman - - - - - 1 Richard van Wijk
+/. 3 c.269T>A - r.(?) p.(Ile90Asn) Parent #1 - pathogenic (recessive) g.155269903A>T g.155300112A>T - - PKLR_000216 BH, SH, {PKLR:90asn} PubMed: Van Wijk 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat4 PubMed: Van Wijk 2009 2-generation family, 2 affected sisters F - Netherlands - - - - - 2 Richard van Wijk
+/. - c.269T>A - r.(?) p.(Ile90Asn) Parent #1 - pathogenic (recessive) g.155269903A>T - - - PKLR_000216 - PubMed: Van Wijk 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat5 PubMed: Van Wijk 2009 sister F - Netherlands - - - - - 1 Richard van Wijk
+/. 3 c.269T>A - r.(?) p.(Ile90Asn) Parent #2 - pathogenic (recessive) g.155269903A>T g.155300112A>T - - PKLR_000216 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat226 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.278C>T - r.(?) p.(Thr93Ile) Parent #2 - pathogenic (recessive) g.155269894G>A g.155300103G>A - - PKLR_000081 AS, HB, {PKLR:93ile} PubMed: Fermo 2005, PubMed: Zanella 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat2;Pat17 PubMed: Fermo 2005, PubMed: Zanella 2007 - F - Italy - - - - - 1 Richard van Wijk
+/. 3 c.283G>A - RNA processing (IIc) p.(Gly95Arg) Unknown - pathogenic g.155269889C>T g.155300098C>T - - PKLR_000148 BH, NA, SH, {PKLR:95arg} Van Wijk 2006 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency - - - - - Netherlands - - - - - 1 Richard van Wijk
+/. 3 c.283G>A - r.101_283del p.Pro35_Gly95del Unknown - pathogenic g.155269889C>T g.155300098C>T - - PKLR_000240 PK type Van Wijk 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - pyr.kin. deficiency - - - - - Netherlands - - - - - 1 Richard van Wijk
+/. 3 c.283G>A - r.spl? p.(Gly95Arg) Parent #1 - pathogenic (recessive) g.155269889C>T g.155300098C>T - - PKLR_000148 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat220 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.283+24G>A - r.(?) p.? Unknown - likely benign g.155269865C>T g.155300074C>T - - PKLR_000415 - PubMed: Berghout 2012 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Berghout 2012 analysis 387 individuals from malaria-endemic and other regions - - - - - - - - 1 Johan den Dunnen
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