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DDG2P

Gene: PLOD3

Red List (low evidence)

PLOD3 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 3)
EnsemblGeneIds (GRCh38): ENSG00000106397
EnsemblGeneIds (GRCh37): ENSG00000106397
OMIM: 603066, Gene2Phenotype
PLOD3 is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible.
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • LYSYL HYDROXYLASE 3 DEFICIENCY 612394
OMIM
603066
Clinvar variants
Variants in PLOD3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: PLOD3 was added gene: PLOD3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLOD3 were set to 18834968 Phenotypes for gene: PLOD3 were set to LYSYL HYDROXYLASE 3 DEFICIENCY 612394