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Cataracts

Gene: PLOD3

Amber List (moderate evidence)

PLOD3 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 3)
EnsemblGeneIds (GRCh38): ENSG00000106397
EnsemblGeneIds (GRCh37): ENSG00000106397
OMIM: 603066, Gene2Phenotype
PLOD3 is in 6 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence for a gene-disease association. Therefore, this gene should be Green at the next review.
Created: 16 Dec 2020, 2:17 p.m. | Last Modified: 16 Dec 2020, 2:17 p.m.
Panel Version: 2.42

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Complex phenotype that includes cataracts in 3/5 described unrelated families.
Sources: Expert list
Created: 7 Jul 2020, 3:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lysyl hydroxylase 3 deficiency, MIM#612394

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Lysyl hydroxylase 3 deficiency, MIM#612394
Tags
for-review
OMIM
603066
Clinvar variants
Variants in PLOD3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: plod3 has been classified as Amber List (Moderate Evidence).

16 Dec 2020, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: PLOD3.

7 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: PLOD3 was added gene: PLOD3 was added to Cataracts. Sources: Expert list 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 Lysyl hydroxylase 3 deficiency, MIM#612394 Review for gene: PLOD3 was set to GREEN gene: PLOD3 was marked as current diagnostic