Aortopathy_Connective Tissue Disorders
Gene: ABCC6EnsemblGeneIds (GRCh38): ENSG00000091262
EnsemblGeneIds (GRCh37): ENSG00000091262
OMIM: 603234, Gene2Phenotype
ABCC6 is in 13 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Insufficient phenotypic overlap to include.Created: 1 Jul 2020, 6:08 a.m. | Last Modified: 1 Jul 2020, 6:08 a.m.
Panel Version: 0.110
Ain Roesley (Victorian Clinical Genetics Services)
PMID: 30071989; not a gene for Heritable Thoracic Aortic Aneurysm and Dissection by Clingen Working Group
PMID: 11536079; a cohort of 122 PXE patients were sequenced and 36 different variants were reported
Sources: LiteratureCreated: 30 Jun 2020, 11:35 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pseudoxanthoma elasticum (MIM# 264800)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Pseudoxanthoma elasticum (MIM# 264800)
- OMIM
- 603234
- Clinvar variants
- Variants in ABCC6
- Penetrance
- None
- Publications
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: abcc6 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: abcc6 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)gene: ABCC6 was added gene: ABCC6 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCC6 were set to PMID: 30071989; 11536079 Phenotypes for gene: ABCC6 were set to Pseudoxanthoma elasticum (MIM# 264800) Review for gene: ABCC6 was set to AMBER