Ehlers Danlos syndromes

Gene: ABCC6

No list

ABCC6 (ATP binding cassette subfamily C member 6)
EnsemblGeneIds (GRCh38): ENSG00000091262
EnsemblGeneIds (GRCh37): ENSG00000091262
OMIM: 603234, Gene2Phenotype
ABCC6 is in 11 panels

3 reviews

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Following discussion at the GMS musculoskeletal specialist test group Webex on 2019-06-04, removing this gene from the panel as the associated PXE phenotype is beyond the scope of this panel.
Created: 11 Jun 2019, 10:59 a.m.
This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ABCC6; Suggested initial gene rating: red
Created: 3 Apr 2019, 3:41 p.m.

Duncan Baker (Sheffield Genetics)

Red List (low evidence)

Following discussion with Dr G Sobey & Dr F van Dijk - rate red
Created: 3 Apr 2019, 3:44 p.m.
Genes for PXE are not required for this panel
Created: 25 Jan 2019, 8:27 a.m.
this gene has a pseudogene for exons 1-9
Created: 24 Jan 2019, 2:40 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pseudoxanthoma elasticum OMIM 264800

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on publications: added publication relating to suggested digenic inheritance (with GGCX) is reported in Pseudoxanthoma elasticum- PMID: 18800149
Created: 10 Jul 2017, 2:26 p.m.
from OMIN: ABCC6 causes pseudoxanthoma elasticum (PXE; see 264800), a heritable connective tissue disorder characterized by calcification of elastic fibers in skin, arteries, and retina (PMID:10835643,10835642,10811882)
Created: 10 Jul 2017, 2:17 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • NHS GMS
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pseudoxanthoma elasticum, AR
  • 264800
  • Pseudoxanthoma elasticum, forme fruste, AD
  • 177850
Tags
curated_removed
OMIM
603234
Clinvar variants
Variants in ABCC6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: ABCC6.

11 Jun 2019, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: abcc6 has been removed from the panel.

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to ABCC6. Rating Changed from Green List (high evidence) to Green List (high evidence)

25 Jul 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

10 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ABCC6 were set to Pseudoxanthoma elasticum, AR; 264800;Pseudoxanthoma elasticum, forme fruste, AD;177850

10 Jul 2017, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for ABCC6 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

10 Jul 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ABCC6 were set to 10835643; 10835642; 10811882; 18800149

10 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Jul 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ABCC6 were set to 10835643;10835642;10811882

10 Jul 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for ABCC6 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jan 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCC6 was added to Ehlers-Danlos syndromespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ABCC6 was created by ellenmcdonagh