Syndromic Retinopathy
Gene: ABCC6EnsemblGeneIds (GRCh38): ENSG00000091262
EnsemblGeneIds (GRCh37): ENSG00000091262
OMIM: 603234, Gene2Phenotype
ABCC6 is in 13 panels
3 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association with PXE. Affected individuals commonly exhibit characteristic lesions of the posterior segment of the eye, including peau d'orange, angioid streaks, and choroidal neovascularizations (CNVs)Created: 10 Oct 2020, 5:11 a.m. | Last Modified: 10 Oct 2020, 5:11 a.m.
Panel Version: 0.96
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pseudoxanthoma elasticum, MIM#264800
Kristin Rigbye (Victorian Clinical Genetics Services)
All conditions are regarded as a single disorder at variable ends of the phenotypic spectrum. The same variants have been reported in all three conditions, however reports for AD PXE are consistently from older papers (pre-2005) and may have missed a 2nd hit (OMIM). More recent papers consistently report this condition as autosomal recessive (PMID: 28102862).
In addition to missense, PTCs and splice variants, deletions and duplications in this gene comprise a significant proportion of variants and are a recognised mechanism / cause of PXE.Created: 7 Oct 2020, 3:07 a.m. | Last Modified: 9 Oct 2020, 4:22 a.m.
Panel Version: 0.4843
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pseudoxanthoma elasticum (MIM#264800), AR
Publications
- PMID: 28102862
Ain Roesley (Victorian Clinical Genetics Services)
PMID: 11536079; 101 unrelated patients with Pseudoxanthoma elasticumCreated: 1 Mar 2020, 10:23 p.m. | Last Modified: 1 Mar 2020, 10:23 p.m.
Panel Version: 0.1570
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pseudoxanthoma elasticum (MIM# 264800)
Publications
- PMID: 11536079
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- RetNet
- Phenotypes
-
- Pseudoxanthoma elasticum, MIM#264800
- Tags
- 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
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag SV/CNV tag was added to gene: ABCC6.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: abcc6 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ABCC6 were changed from to Pseudoxanthoma elasticum, MIM#264800
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ABCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)gene: ABCC6 was added gene: ABCC6 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: ABCC6 was set to Unknown