Skeletal dysplasia
Gene: PLOD1

PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1)
EnsemblGeneIds (GRCh38): ENSG00000083444
EnsemblGeneIds (GRCh37): ENSG00000083444
OMIM: 153454, Gene2Phenotype
PLOD1 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Review in PMID: 28306225: "A total of 139 mutations in PLOD1 have been identified in the 84 confirmed cases, of these there are 39 different mutations." It is included in The 2017 International Classification of the Ehlers-Danlos Syndromes (PMID: 28306229).
Created: 24 Apr 2022, 8:57 a.m. | Last Modified: 24 Apr 2022, 8:57 a.m.

Panel Version: 0.13257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome, kyphoscoliotic type, 1, MIM# 225400

Publications

28306225

Created: 24 Apr 2022, 8:57 a.m.
Last Modified: 24 Apr 2022, 8:57 a.m.
Panel version: Imported from Mendeliome panel version 0.13260

Details

Sources

Expert Review Green
Expert
Victorian Clinical Genetics Services

OMIM

153454

Clinvar variants

Variants in PLOD1

Penetrance

None

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PLOD1 was added gene: PLOD1 was added to Skeletal dysplasia. Sources: Expert Mode of inheritance for gene: PLOD1 was set to

Skeletal dysplasia Gene: PLOD1