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Mendeliome

Gene: PLOD3

Green List (high evidence)

PLOD3 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 3)
EnsemblGeneIds (GRCh38): ENSG00000106397
EnsemblGeneIds (GRCh37): ENSG00000106397
OMIM: 603066, Gene2Phenotype
PLOD3 is in 8 panels

2 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Comment when marking as ready: >3 unrelated families reported
Created: 20 Apr 2020, 5:36 a.m. | Last Modified: 20 Apr 2020, 5:36 a.m.
Panel Version: 0.2421

Sarah Pantaleo (Victorian Clinical Genetics Services)

Green List (high evidence)

At least three families reported with bi-allelic variants in this gene and a connective tissue phenotype; another in a large study reporting multiple emerging genes in consanguineous families.
Sources: Literature (reviewed by ZS for gene panel Aortopathy_Connective Tissue Disorders).
Created: 20 Apr 2020, 3:42 a.m. | Last Modified: 20 Apr 2020, 3:42 a.m.
Panel Version: 0.2365

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lysyl hydroxylase 3 deficiency, MIM#612394

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
OMIM
603066
Clinvar variants
Variants in PLOD3
Penetrance
None
Panels with this gene

History Filter Activity

20 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: plod3 has been classified as Green List (High Evidence).

20 Apr 2020, Gel status: 3

Set mode of inheritance

Alison Yeung (Victorian Clinical Genetics Services)

Mode of inheritance for gene: PLOD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PLOD3 was added gene: PLOD3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PLOD3 was set to Unknown