Full data view for gene PLOD1

Ehlers Danlos Syndrome Variant Database


Information The variants shown are described using the NM_000302.3 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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Effect     
Exon     
AscendingDNA change (cDNA)     
RNA change     
Protein     
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Type/DNA     
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Classification method     
Clinical classification     
DNA change (genomic) (hg19)     
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ClinVar ID     
dbSNP ID     
Origin     
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Methylation     
Template     
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Disease     
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Consanguinity     
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Owner     
+/+ 9i c.975+975_1755+?dup r.(?) p.(Glu326_Lys585dup) duplication duplication Both (homozygous) - pathogenic g.12019679_12027148dup - - - PLOD1_000003 - PubMed: Giunta et al., 2005b - - Unknown - - +Eael, +SexAI - - DNA PCR, SEQ - - EDS, EDSKSCL1 P1 PubMed: Giunta et al., 2005b P1 has consanguineous parents and also has a female sibling who is more severly affected. The PLOD1 variant is incorrectly described as c.1067_1846dup in PubMed: Giunta et al., 2005b. The actual variant details have been confirmed with the authors.The patient is clinically described as patient O.A.in {PMID9714013:Jarisch et al., 1998}. An affected sibling of the patient, M.A., is also described in {PMID9714013:Jarisch et al., 1998}. Both siblings are affected with both EDS VI and Cystic Fibrosis. - - Turkey Turkish - - - - 1 Raymond Dalgleish
+/+ 9i c.975+975_1755+?dup r.(?) p.(Glu326_Lys585dup) duplication duplication Both (homozygous) - pathogenic g.12019679_12027148dup - - - PLOD1_000003 - PubMed: Giunta et al., 2005b - - Unknown - - +Eael, +SexAI - - DNA CSGE - - EDS, EDSKSCL1 P3 PubMed: Giunta et al., 2005b The consanguinity of parents of the patient is unknown. The PLOD1 variant is incorrectly described as c.1067_1846dup in PubMed: Giunta et al., 2005b. The actual variant details have been confirmed with the authors. - - Albania Albanian - - - - 1 Raymond Dalgleish
+/+ 9i c.975+975_1755+?dup r.(?) p.(Glu326_Lys585dup) duplication duplication Both (homozygous) - pathogenic g.12019679_12027148dup - - - PLOD1_000003 - PubMed: Giunta et al., 2005b - - Unknown - - +Eael, +SexAI - - DNA PCR, SEQ - - EDS, EDSKSCL1 P2 PubMed: Giunta et al., 2005b The PLOD1 variant is incorrectly described as c.1067_1846dup in PubMed: Giunta et al., 2005b. The actual variant details have been confirmed with the authors. - - Germany German - - - - 1 Raymond Dalgleish
+/+ 9i c.975+975_1755+?dup r.(?) p.(Glu326_Lys585dup) duplication duplication Both (homozygous) - pathogenic g.12019679_12027148dup - - - PLOD1_000003 - PubMed: Giunta et al., 2005b - - Unknown - - +Eael, +SexAI - - DNA PCR, SEQ - - EDS, EDSKSCL1 P4 PubMed: Giunta et al., 2005b The patient has consanguineous parents. The PLOD1 variant is incorrectly described as c.1067_1846dup in PubMed: Giunta et al., 2005b. The actual variant details have been confirmed with the authors. - - Bosnia and Herzegovina Bosnian - - - - 1 Raymond Dalgleish
+/+ 9i c.975+975_1755+?dup r.(?) p.(Glu326_Lys585dup) duplication duplication Paternal (confirmed) - pathogenic g.12019679_12027148dup - - - PLOD1_000003 - PubMed: Giunta et al., 2005b - - Unknown - - +Eael, +SexAI - - DNA PCR, SEQ - - EDS, EDSKSCL1 P5 PubMed: Giunta et al., 2005b The paternal duplication variant was published by {PMID8981946:Heikkinen et al., 1997} (presumably as patient AB) whereas the maternal mutation remained undetectable at that time.The maternal variant is incorrectly described as c.1253delC in PubMed: Giunta et al., 2005b. The protein effect is also incorrect described in the same paper as p.Ile454IlefsX2. The paternal variant is incorrectly described as c.1067_1846dup in PubMed: Giunta et al., 2005b. The actual variant details have been confirmed with the authors. - - Bosnia and Herzegovina Bosnian - - - - 1 Raymond Dalgleish
+/+ 9i c.975+975_1755+?dup r.(?) p.(Glu326_Lys585dup) duplication duplication Both (homozygous) - pathogenic g.12019679_12027148dup - - - PLOD1_000003 - PubMed: Heikkinen et al., 1997 - - Unknown - - +Eael, +SexAI - - DNA PCR, SEQ, Southern - - EDS, EDSKSCL1 - PubMed: Heikkinen et al., 1997 The parents of the patient are first cousins. There are two affected members in the family. - - Turkey Turkish - - - - 1 Raymond Dalgleish
+/+ 9i c.975+975_1755+?dup r.(?) p.(Glu326_Lys585dup) duplication duplication Both (homozygous) - pathogenic g.12019679_12027148dup - - - PLOD1_000003 - PubMed: Heikkinen et al., 1997 - - Unknown - - +Eael, +SexAI - - DNA PCR, SEQ, Southern - - EDS, EDSKSCL1 - PubMed: Heikkinen et al., 1997 The parents of the patient are first cousins. The patient has two clinically healthy sisters, of whom one was found to be a carrier for the duplicated allele in an enzyme assay reported in {PMID8981946:Heikkinen et al., 1997}. - - Iran Iranian - - - - 1 Raymond Dalgleish
+/+ 9i c.975+975_1755+?dup r.(?) p.(Glu326_Lys585dup) duplication duplication Both (homozygous) - pathogenic g.12019679_12027148dup - - - PLOD1_000003 - PubMed: Heikkinen et al., 1997 - - Unknown - - +Eael, +SexAI - - DNA PCR, SEQ, Southern - - EDS, EDSKSCL1 - PubMed: Heikkinen et al., 1997 There are two affected members in the family. - - United States American - - - - 1 Raymond Dalgleish
+/+ 9i c.975+975_1755+?dup r.(?) p.(Glu326_Lys585dup) duplication duplication Both (homozygous) - pathogenic g.12019679_12027148dup - - - PLOD1_000003 - PubMed: Heikkinen et al., 1997 - - Unknown - - +Eael, +SexAI - - DNA PCR, SEQ, Southern - - EDS, EDSKSCL1 - PubMed: Heikkinen et al., 1997 curated: RWMD 16/08/2011 - - Russia Russian - - - - 1 Raymond Dalgleish
+/+ 9i c.975+975_1755+?dup r.(?) p.(Glu326_Lys585dup) duplication duplication Both (homozygous) - pathogenic g.12019679_12027148dup - - - PLOD1_000003 - PubMed: Brinckmann et al., 1998 - - Unknown - - +Eael, +SexAI - - DNA, RNA PCR, RT-PCR, SEQ - - EDS, EDSKSCL1 P1 PubMed: Brinckmann et al., 1998 The PLOD1 variant is incorrectly described as duplication of the nucleotide 1176-1955 in {PMID9617436:Brinckmann et al., 1998}. - - - - - - - - 1 Raymond Dalgleish
+/+ 9i c.975+975_1755+?dup r.(?) p.(Glu326_Lys585dup) duplication duplication Both (homozygous) - pathogenic g.12019679_12027148dup - - - PLOD1_000003 - PubMed: Brinckmann et al., 1998 - - Unknown - - +Eael, +SexAI - - DNA, RNA PCR, RT-PCR, SEQ - - EDS, EDSKSCL1 P3 PubMed: Brinckmann et al., 1998 The patient was an adopted turkish girl. The mutation is incorrectly described as a duplication in the nucleotide 1176-1955 in {PMID9617436:Brinckmann et al., 1998}. - - Turkey Turkish - - - - 1 Raymond Dalgleish
+/+ 9i c.975+975_1755+?dup r.(?) p.(Glu326_Lys585dup) duplication duplication Both (homozygous) - pathogenic g.12019679_12027148dup - - - PLOD1_000003 - PubMed: Yeowell et al., 2005 - - Unknown - - +Eael, +SexAI - - DNA, RNA PCR, RT-PCR, SEQ - - EDS, EDSKSCL1 - PubMed: Yeowell et al., 2005 The patient is the first child of healthy consanguineous parents. The patient also suffers from cystic malformations of the meninges which is described in PubMed: Brunk et al., 2004. - - Turkey Turkish - - - - 1 Raymond Dalgleish
+/+ 9i c.975+975_1755+?dup r.(?) p.(Glu326_Lys585dup) duplication duplication Maternal (confirmed) - pathogenic g.12019679_12027148dup - - - PLOD1_000003 - PubMed: Yeowell et al., 2000 - - Unknown - - +Eael, +SexAI - - DNA, RNA PCR, RT-PCR, SEQ - - EDS, EDSVASC - PubMed: Yeowell et al., 2000 The PLOD1 substitution variant is incorrectly described as 2032C>T in PubMed: Yeowell et al., 2000. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252.A prenatal diagnosis on the patient's male sibling was carried out. This too is reported in PubMed: Yeowell et al., 2000 and the outcome of the assessment revealed that the fetus had inherited the mutated paternal allele and a normal non-mutated allele from the mother. Although a carrier of this disease, the individual was born healthy. - - United States North American - - - - 1 Raymond Dalgleish
+/+ 9i c.975+975_1755+?dup r.(?) p.(Glu326_Lys585dup) duplication duplication Parent #1 - pathogenic g.12019679_12027148dup - - - PLOD1_000003 - PubMed: Yeowell et al., 2000 - - Unknown - - +Eael, +SexAI - - DNA, RNA PCR, RT-PCR, SEQ - - EDS, EDSKSCL1 - PubMed: Yeowell et al., 2000 The PLOD1 substitution variant is incorrectly described as 1557C>G in PubMed: Yeowell et al., 2000. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252. - - United States North American - - - - 1 Raymond Dalgleish
+/+ 9i c.975+975_1755+?dup r.(?) p.(Glu326_Lys585dup) duplication duplication Both (homozygous) - pathogenic g.12019679_12027148dup - - - PLOD1_000003 - PubMed: Pousi et al., 1994 - - Unknown - - +Eael, +SexAI - - DNA, RNA PCR, RT-PCR, SEQ, Southern - - EDS, EDSKSCL1 - PubMed: Pousi et al., 1994 This patient was originally analyzed and clinically described by {PMID4373475:Sussman et al., 1974}. This patient also has an affected brother, described as Case 2 in {PMID4373475:Sussman et al., 1974}. The patient is also mentioned subsequently by {PMID8981946:Heikkinen et al., 1997} clarifying the ethnic origin. - - United States white (American) - - - - 1 Raymond Dalgleish
+/+ 9i c.975+975_1755+?dup r.(?) p.(Glu326_Lys585dup) duplication duplication Parent #1 - pathogenic g.12019679_12027148dup - - - PLOD1_000003 - PubMed: Heikkinen et al., 1997 - - Unknown - - +Eael, +SexAI - - DNA, RNA PCR, RT-PCR, SEQ - - EDS, EDSKSCL1 - PubMed: Heikkinen et al., 1997 - - - Germany German - - - - 1 Raymond Dalgleish
+/+ 9i c.975+975_1755+?dup r.(?) p.(Glu326_Lys585dup) duplication duplication Both (homozygous) - pathogenic g.12019679_12027148dup - - - PLOD1_000003 - PubMed: Hautala et al., 1993 - - Unknown - - +Eael, +SexAI - - DNA, RNA RT-PCR, SEQ, Southern - - EDS, EDSKSCL1 - PubMed: Hautala et al., 1993 The sister of the patient also harbours the same variant and she is described as GM01791 in {PMID8449506:Hautala et al., 1993}. The two siblings are also clinically reported in {PMID5016372:Pinnell et al., 1972} and {PMID4342967:Krane et al., 1972}. The father of the patients is of English-Irish ancestry and the mother is a mixture of Cherokee Indian, Welsh and Dutch. DNA from neither parent is available for study. In {PMID8449506:Hautala et al., 1993}, the nucleotide position of the variant is incorrectly described as 1176 to 1955. The patient is also mentioned subsequently by {PMID8981946:Heikkinen et al., 1997} giving the ethnic origin. - - United States American - - - - 1 Raymond Dalgleish
+/+ 9i c.975+975_1755+?dup r.(?) p.(Glu326_Lys585dup) duplication duplication Parent #1 - pathogenic g.12019679_12027148dup - - - PLOD1_000003 - PubMed: Heikkinen et al., 1997 - - Unknown - - +Eael, +SexAI - - DNA PCR, SEQ, Southern - - EDS, EDSKSCL1 - PubMed: Heikkinen et al., 1997 The sequence variant of PLOD1 gene in the other allele of the patient is unknown. - - United States American - - - - 1 Raymond Dalgleish
+/+ 9i c.975+975_1755+?dup r.(?) p.(Glu326_Lys585dup) duplication duplication Both (homozygous) - pathogenic g.12019679_12027148dup - - - PLOD1_000003 - PubMed: Rohrbach et al., 2011 - - Unknown - - +Eael, +SexAI - - DNA PCR, SEQ - - EDS, EDSKSCL1 P1 PubMed: Rohrbach et al., 2011 - - - Macedonia Macedonian - - - - 1 Raymond Dalgleish
+/+ 9i c.975+975_1755+?dup r.(?) p.(Glu326_Lys585dup) duplication duplication Both (homozygous) - pathogenic g.12019679_12027148dup - - - PLOD1_000003 - PubMed: Rohrbach et al., 2011 - - Unknown - - +Eael, +SexAI - - DNA PCR, SEQ - - EDS, EDSKSCL1 P4 PubMed: Rohrbach et al., 2011 - - - Turkey Turkish - - - - 1 Raymond Dalgleish
+/+ 9i c.975+975_1755+?dup r.(?) p.(Glu326_Lys585dup) duplication duplication Both (homozygous) - pathogenic g.12019679_12027148dup - - - PLOD1_000003 - PubMed: Abdalla et al., 2015 - - Unknown - - +Eael, +SexAI - - DNA PCR, SEQ - - EDS, EDSKSCL1 Family 3 PubMed: Abdalla et al., 2015 The parents are first cousins. - - Egypt Egyptian - - - - 1 Raymond Dalgleish
+/+ 9i c.975+975_1755+?dup r.(?) p.(Glu326_Lys585dup) duplication duplication Both (homozygous) - pathogenic g.12019679_12027148dup - - - PLOD1_000003 - PubMed: Abdalla et al., 2015 - - Unknown - - +Eael, +SexAI - - DNA PCR, SEQ - - EDS, EDSKSCL1 Family 4 PubMed: Abdalla et al., 2015 The parents are first cousins. - - Egypt Egyptian - - - - 1 Raymond Dalgleish
+?/+? 9i c.975+975_1755+?dup r.(?) p.(Glu326_Lys585dup) duplication duplication Unknown - likely pathogenic g.12019679_12027148dup - - - PLOD1_000003 - PubMed: van Dijk et al., 2017 - - Unknown - - +Eael, +SexAI - - DNA SEQ-NG, SEQ - - EDS, EDSKSCL1 P2 PubMed: van Dijk et al., 2017 The technique used was the custom NGS Gene panel. - - - - - - - - 1 Raymond Dalgleish
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