PLOD1

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

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red PLOD1 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection Version 0.11	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red ClinGen Phenotypes Familial thoracic aortic aneurysm and aortic dissection
Green PLOD1 in Thoracic aortic aneurysm or dissection (GMS) Version 3.11 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH London South GLH South West GLH London South GLH Phenotypes kyphoscoliotic EDS Ehlers-Danlos syndrome, type VI, 225400
Green PLOD1 in Thoracic aortic aneurysm or dissection Level 3: Connective tissue disorders and aortopathies Level 2: Cardiovascular disorders Version 1.127	review	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH London South GLH Expert Review Green Other Phenotypes Ehlers-Danlos syndrome, type VI, 225400 kyphoscoliotic EDS
Green PLOD1 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 5.31 Latest signed off version: v5.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ehlers-Danlos syndrome, type VI 225400
Red PLOD1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.63 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Expert
Green PLOD1 in Ehlers Danlos syndrome with a likely monogenic cause Level 3: Connective tissues disorders Level 2: Rheumatological disorders Version 3.12 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Other Eligibility statement prior genetic testing Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Expert list UKGTN Radboud University Medical Center, Nijmegen Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, 1, OMIM:225400
Green PLOD1 in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM
Red PLOD1 in Osteogenesis imperfecta Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.5 Latest signed off version: v4.0 (22 Mar 2023)	review	Not set	Sources Expert
Green PLOD1 in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM 225400
Red PLOD1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO
Green PLOD1 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, 1, 225400