PLOD3:Ensemblv90

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

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green PLOD3 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.101	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 0.396	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 1.22	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Blistering skin lesions
Green PLOD3 in Mendeliome Version 1.3802	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 1.304	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 1.508	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 1.12 Component of the following Super Panels: Retinal Disorders Superpanel	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 1.482	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lysyl hydroxylase 3 deficiency - MIM#612394 Stickler-syndrome like
Green PLOD3 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green 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 Literature Expert Review Green 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 Literature Expert Review Amber Phenotypes Blistering skin lesions
Green PLOD3 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Lysyl hydroxylase 3 deficiency, MIM# 612394 Sensorineural deafness
Green PLOD3 in Stickler Syndrome Level 2: Ophthalmological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Lysyl hydroxylase 3 deficiency, MIM#612394 Stickler-like phenotype with high myopia, midface hypoplasia, microretrognathia