Skeletal dysplasia
Gene: PLOD2

PLOD2 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 2)
EnsemblGeneIds (GRCh38): ENSG00000152952
EnsemblGeneIds (GRCh37): ENSG00000152952
OMIM: 601865, Gene2Phenotype
PLOD2 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis. Numerous patients reported with biallelic mutations in PLOD2. Established gene-disease association.
Created: 24 Apr 2022, 8:54 a.m. | Last Modified: 24 Apr 2022, 8:54 a.m.

Panel Version: 0.13254

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bruck syndrome 2, MIM# 609220

Publications

Created: 24 Apr 2022, 8:54 a.m.
Last Modified: 24 Apr 2022, 8:54 a.m.
Panel version: Imported from Mendeliome panel version 0.13254

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
Expert
NHS GMS
Emory Genetics Laboratory
Victorian Clinical Genetics Services

Phenotypes

Bruck syndrome 2 609220

OMIM

601865

Clinvar variants

Variants in PLOD2

Penetrance

None

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PLOD2 was added gene: PLOD2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert,Expert Review Green Mode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLOD2 were set to Bruck syndrome 2 609220

Skeletal dysplasia Gene: PLOD2