Skeletal Dysplasia_Fetal
Gene: PLOD2
PLOD2 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 2)
EnsemblGeneIds (GRCh38): ENSG00000152952
EnsemblGeneIds (GRCh37): ENSG00000152952
OMIM: 601865, Gene2Phenotype
PLOD2 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000152952
EnsemblGeneIds (GRCh37): ENSG00000152952
OMIM: 601865, Gene2Phenotype
PLOD2 is in 11 panels
1 review
Chirag Patel (Genetic Health Queensland)
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. Suitable for fetal anomalies panel.Created: 21 Feb 2022, 5:56 a.m. | Last Modified: 21 Feb 2022, 5:56 a.m.
Panel Version: 0.3726
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bruck syndrome 2 , OMIM #609220
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
- OMIM
- 601865
- Clinvar variants
- Variants in PLOD2
- Penetrance
- None
- Panels with this gene
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PLOD2 was added gene: PLOD2 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PLOD2 was set to Unknown