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Prepair 1000+

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 11 panels

1 review

Shakira Heerah (Victorian Clinical Genetics Services)

Green List (high evidence)

Bruck syndrome is characterised by osteoporosis, joint contractures at birth, fragile bones and short stature. Well established gene-disease association.
Created: 13 Jan 2025, 6:12 a.m. | Last Modified: 13 Jan 2025, 6:12 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bruck syndrome 2, MIM#609220

Publications

History Filter Activity

16 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plod2 has been classified as Green List (High Evidence).

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PLOD2 were changed from Bruck syndrome 2, 609220 (3) to Bruck syndrome 2, MIM#609220

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PLOD2 were set to

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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 (3)