Cerebral vascular malformations
Gene: ABCC6
ABCC6 (ATP binding cassette subfamily C member 6)
EnsemblGeneIds (GRCh38): ENSG00000091262
EnsemblGeneIds (GRCh37): ENSG00000091262
OMIM: 603234, Gene2Phenotype
ABCC6 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000091262
EnsemblGeneIds (GRCh37): ENSG00000091262
OMIM: 603234, Gene2Phenotype
ABCC6 is in 12 panels
1 review
Alice Gardham (Genomics England)
one report of a child with Moya Moya with two variants in this gene -both inherited from unaffected fatherCreated: 12 Dec 2016, 2:11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pseudoxanthoma elasticum 264800
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- Expert list
- Phenotypes
-
- Moyamoya disease
- OMIM
- 603234
- Clinvar variants
- Variants in ABCC6
- Penetrance
- Complete
- 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
29 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to ABCC6.
29 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ABCC6.
19 Dec 2016, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
12 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
2 Nov 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ABCC6 was added to Cerebrovascular disorderspanel. Sources: Expert list
2 Nov 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ABCC6 was created by ellenmcdonagh