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Severe Paediatric Disorders

Gene: PLOD1

Green List (high evidence)

PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1)
EnsemblGeneIds (GRCh38): ENSG00000083444
EnsemblGeneIds (GRCh37): ENSG00000083444
OMIM: 153454, Gene2Phenotype
PLOD1 is in 11 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: PLOD1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 1, 225400 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:23 p.m. | Last Modified: 20 Feb 2020, 5:23 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Ehlers-Danlos syndrome, kyphoscoliotic type, 1, 225400
OMIM
153454
Clinvar variants
Variants in PLOD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)