PLOD1

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

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green PLOD1 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.86	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 0.416	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PLOD1 in Mendeliome Version 1.2302	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 0.302	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 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 1.313	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 1.1566	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 1.116	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 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ehlers-Danlos syndrome, type VI, 225400 (3)