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Severe Paediatric Disorders

Gene: ABCC6

Green List (high evidence)

ABCC6 (ATP binding cassette subfamily C member 6)
EnsemblGeneIds (GRCh38): ENSG00000091262
EnsemblGeneIds (GRCh37): ENSG00000091262
OMIM: 603234, Gene2Phenotype
ABCC6 is in 13 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: ABCC6; Recommended initial gene rating: Green List (high evidence); Phenotypes: Arterial calcification, generalized, of infancy, 2, 614473 (3) | Pseudoxanthoma elasticum, 264800 (3) | Pseudoxanthoma elasticum, forme fruste, 177850 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive | Autosomal dominant
Created: 20 Feb 2020, 5:15 p.m. | Last Modified: 20 Feb 2020, 5:15 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Arterial calcification, generalized, of infancy, 2, 614473
  • Pseudoxanthoma elasticum, 264800
  • Pseudoxanthoma elasticum, forme fruste, 177850
OMIM
603234
Clinvar variants
Variants in ABCC6
Penetrance
None
Publications
Panels with this gene