Rare genetic inflammatory skin disorders
Gene: ABCC6EnsemblGeneIds (GRCh38): ENSG00000091262
EnsemblGeneIds (GRCh37): ENSG00000091262
OMIM: 603234, Gene2Phenotype
ABCC6 is in 12 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Green in South Thames word document - ?PXE fitting for ISD.Created: 12 Dec 2019, 3:08 p.m. | Last Modified: 12 Dec 2019, 3:08 p.m.
Panel Version: 0.21
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
PSEUDOXANTHOMA ELASTICUM; PXE
Publications
Catherine Snow (Genomics England)
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:ABCC6; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.14
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- PSEUDOXANTHOMA ELASTICUM, OMIM:264800
- Pseudoxanthoma elasticum, forme fruste, OMIM:177850
- OMIM
- 603234
- Clinvar variants
- Variants in ABCC6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Retinal disorders
- Rare genetic inflammatory skin disorders
- Thoracic aortic aneurysm or dissection (GMS)
- DDG2P
- Thoracic aortic aneurysm or dissection
- Intellectual disability
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Familial cerebral small vessel disease
- Pseudoxanthoma elasticum
- Cerebral vascular malformations
- Generalised arterial calcification in infancy
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ABCC6 were changed from PSEUDOXANTHOMA ELASTICUM; PXE to PSEUDOXANTHOMA ELASTICUM, OMIM:264800; Pseudoxanthoma elasticum, forme fruste, OMIM:177850
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes PSEUDOXANTHOMA ELASTICUM; PXE for gene: ABCC6 Publications for gene ABCC6 were changed from to 10835642
Created, Added New Source, Set mode of inheritance
Catherine Snow (Genomics England)gene: ABCC6 was added gene: ABCC6 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber Mode of inheritance for gene: ABCC6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal