PLOD1

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
OMIM: 153454, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green PLOD1 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.85	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, MIM# 225400
Green PLOD1 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.411 Component of the following Super Panels: Neuromuscular Superpanel	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PLOD1 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, 1, MIM## 225400
Red PLOD1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	Not set	Sources Expert Review Green Expert Victorian Clinical Genetics Services
Green PLOD1 in Multiple joint dislocations and laxity Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 225400
Green PLOD1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ehlers-Danlos syndrome, type VI, 225400 (3)
Green PLOD1 in Ehlers Danlos syndromes Level 2: Cardiovascular disorders Version 1.3	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature International EDS Consortium Expert Review Green Phenotypes Ehlers Danlos syndrome, type VI, 225400 Kyphoscoliotic EDS
Green PLOD1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type
Green PLOD1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, 1, OMIM #225400
Green PLOD1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ehlers-Danlos syndrome, type VI, 225400 (3)
Red PLOD1 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, MIM# 225400
Green PLOD1 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ehlers-Danlos syndrome, type VI, 225400 (3)