PLOD3

procollagen-lysine,2-oxoglutarate 5-dioxygenase 3
OMIM: 603066, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green PLOD3 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lysyl hydroxylase 3 deficiency, MIM#612394
Green PLOD3 in Cataract Level 2: Ophthalmological disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lysyl hydroxylase 3 deficiency, MIM#612394
Amber PLOD3 in Epidermolysis bullosa Level 2: Dermatological disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Blistering skin lesions
Green PLOD3 in Mendeliome Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lysyl hydroxylase 3 deficiency, MIM#612394 Bone fragility with contractures, arterial rupture, and deafness (BCARD syndrome) MONDO:0012892
Green PLOD3 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lysyl hydroxylase 3 deficiency, MIM# 612394 Sensorineural deafness
Amber PLOD3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Lysyl hydroxylase 3 deficiency, MIM#612394
Green PLOD3 in Stickler Syndrome Level 2: Ophthalmological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lysyl hydroxylase 3 deficiency, MIM#612394 Stickler-like phenotype with high myopia, midface hypoplasia, microretrognathia
Green PLOD3 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lysyl hydroxylase 3 deficiency - MIM#612394 Stickler-syndrome like