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 13 panels
EnsemblGeneIds (GRCh38): ENSG00000091262
EnsemblGeneIds (GRCh37): ENSG00000091262
OMIM: 603234, Gene2Phenotype
ABCC6 is in 13 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A single case with Moya moya disease and 2 variants in cis, inherited from unaffected father.Created: 20 Sep 2021, 1:49 a.m. | Last Modified: 20 Sep 2021, 1:49 a.m.
Panel Version: 0.21
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Moya moya disease
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Genomics England PanelApp
- Phenotypes
-
- Moyamoya disease
- OMIM
- 603234
- Clinvar variants
- Variants in ABCC6
- Penetrance
- None
- Panels with this gene
-
- Stroke
- Mackenzie's Mission_Reproductive Carrier Screening
- Facial papules
- Nucleotide metabolism disorders
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Aortopathy_Connective Tissue Disorders
- Syndromic Retinopathy
- Intellectual disability syndromic and non-syndromic
- Cerebral vascular malformations
History Filter Activity
20 Sep 2021, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: abcc6 has been classified as Red List (Low Evidence).
18 May 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ABCC6 was added gene: ABCC6 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ABCC6 was set to Unknown Phenotypes for gene: ABCC6 were set to Moyamoya disease