Research panel - Severe Paediatric Disorders
Gene: ABCC6

ABCC6 (ATP binding cassette subfamily C member 6)
EnsemblGeneIds (GRCh38): ENSG00000091262
EnsemblGeneIds (GRCh37): ENSG00000091262
OMIM: 603234, Gene2Phenotype
ABCC6 is in 12 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

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

30847515

Panels with this gene