Cataract
Gene: PLOD3
PLOD3 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 3)
EnsemblGeneIds (GRCh38): ENSG00000106397
EnsemblGeneIds (GRCh37): ENSG00000106397
OMIM: 603066, Gene2Phenotype
PLOD3 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000106397
EnsemblGeneIds (GRCh37): ENSG00000106397
OMIM: 603066, Gene2Phenotype
PLOD3 is in 8 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: Borderline Green, unclear at present what proportion of affected individuals will have cataract as part of the phenotype.Created: 18 Mar 2020, 4:28 a.m. | Last Modified: 18 Mar 2020, 4:28 a.m.
Panel Version: 0.19
Phenotypes
Lysyl hydroxylase 3 deficiency, MIM#612394
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- cataract
- OMIM
- 603066
- Clinvar variants
- Variants in PLOD3
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
18 Mar 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: plod3 has been classified as Green List (High Evidence).
18 Mar 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: plod3 has been classified as Green List (High Evidence).
18 Mar 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Lauren Akesson (Royal Melbourne Hospital)gene: PLOD3 was added gene: PLOD3 was added to Cataract. Sources: Literature Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLOD3 were set to 18834968; 30463024; 31129566 Phenotypes for gene: PLOD3 were set to cataract Penetrance for gene: PLOD3 were set to unknown Review for gene: PLOD3 was set to GREEN