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Arthrogryposis

Gene: PLOD2

Green List (high evidence)

PLOD2 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 2)
EnsemblGeneIds (GRCh38): ENSG00000152952
EnsemblGeneIds (GRCh37): ENSG00000152952
OMIM: 601865, Gene2Phenotype
PLOD2 is in 6 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Mutations identified in at least seven families. Recognised on G2P as causing osteogenesis imperfect with contractures
Created: 22 Dec 2016, 3:58 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bruck syndrome 2 609220

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Bruck syndrome 2 609220
OMIM
601865
Clinvar variants
Variants in PLOD2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

22 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

22 Dec 2016, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for PLOD2 were set to 22689593

22 Dec 2016, Gel status: 4

Upload gene information

Alice Gardham (Genomics England)

PLOD2 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory

22 Dec 2016, Gel status: 0

Set Mode of Inheritance

Alice Gardham (Genomics England)

Model of inheritance for gene PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal

22 Dec 2016, Gel status: 0

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for gene PLOD2 were set to Bruck syndrome 2 609220

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PLOD2 was created by ellenmcdonagh

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PLOD2 was added to Arthrogryposispanel. Sources: Expert list