Osteogenesis Imperfecta and Osteoporosis
Gene: PLOD2EnsemblGeneIds (GRCh38): ENSG00000152952
EnsemblGeneIds (GRCh37): ENSG00000152952
OMIM: 601865, Gene2Phenotype
PLOD2 is in 11 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Established gene-disease association, multiple families reported. Increased bone fragility and fractures are part of the phenotype.Created: 26 Mar 2023, 10:29 p.m. | Last Modified: 26 Mar 2023, 10:29 p.m.
Panel Version: 0.90
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bruck syndrome 2, MIM# 609220
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Bruck syndrome 2, MIM# 609220
- OMIM
- 601865
- Clinvar variants
- Variants in PLOD2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: plod2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PLOD2 were changed from to Bruck syndrome 2, MIM# 609220
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PLOD2 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: PLOD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PLOD2 was set to Unknown