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  3. ABCC6
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Stroke

Gene: ABCC6

Green List (high evidence)
ABCC6 (ATP binding cassette subfamily C member 6)
EnsemblGeneIds (GRCh38): ENSG00000091262
EnsemblGeneIds (GRCh37): ENSG00000091262
OMIM: 603234, Gene2Phenotype
ABCC6 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Premature vascular occlusion disease, including stroke.
Created: 10 Mar 2021, 12:17 a.m. | Last Modified: 10 Mar 2021, 12:17 a.m.
Panel Version: 0.58

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pseudoxanthoma elasticum, MIM# 264800; Pseudoxanthoma elasticum, forme fruste, MIM# 177850

Created: 10 Mar 2021, 12:17 a.m.
Last Modified: 10 Mar 2021, 12:17 a.m.
Panel version: 0.58

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Pseudoxanthoma elasticum, MIM# 264800
  • Pseudoxanthoma elasticum, forme fruste, MIM# 177850
Tags
SV/CNV
OMIM
603234
Clinvar variants
Variants in ABCC6
Penetrance
None
Panels with this gene

History Filter Activity

21 Mar 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: ABCC6.

10 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: abcc6 has been classified as Green List (High Evidence).

10 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ABCC6 were changed from Pseudoxanthoma elasticum, forme fruste to Pseudoxanthoma elasticum, MIM# 264800; Pseudoxanthoma elasticum, forme fruste, MIM# 177850

10 Mar 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ABCC6 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

22 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ABCC6 was added gene: ABCC6 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ABCC6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ABCC6 were set to Pseudoxanthoma elasticum, forme fruste