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
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
Lysyl hydroxylase 3 deficiency, MIM#612394
Variants in this GENE are reported as part of current diagnostic practice
Gene: plod3 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: PLOD3.
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