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  3. PLOD1
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Aortopathy_Connective Tissue Disorders

Gene: PLOD1

Green List (high evidence)
PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1)
EnsemblGeneIds (GRCh38): ENSG00000083444
EnsemblGeneIds (GRCh37): ENSG00000083444
OMIM: 153454, Gene2Phenotype
PLOD1 is in 11 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

Review in PMID: 28306225 states: "A total of 139 mutations in PLOD1 have been identified in the 84 confirmed cases, of these there are 39 different mutations." It is included in The 2017 International Classification of the Ehlers-Danlos Syndromes (PMID: 28306229).

Medium‐sized vessel rupture has been reported in several individual case reports.
Sources: Literature
Created: 1 Jul 2020, 3:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome, kyphoscoliotic type, MIM# 225400

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 1 Jul 2020, 3:17 a.m.

Panel version: 0.96

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome, kyphoscoliotic type, MIM# 225400
OMIM
153454
Clinvar variants
Variants in PLOD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: plod1 has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: plod1 has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Paul De Fazio (Victorian Clinical Genetics Services)

gene: PLOD1 was added gene: PLOD1 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLOD1 were set to 28306225; 28306229 Phenotypes for gene: PLOD1 were set to Ehlers-Danlos syndrome, kyphoscoliotic type, MIM# 225400 Review for gene: PLOD1 was set to GREEN gene: PLOD1 was marked as current diagnostic