Facial papules
Gene: ABCC6EnsemblGeneIds (GRCh38): ENSG00000091262
EnsemblGeneIds (GRCh37): ENSG00000091262
OMIM: 603234, Gene2Phenotype
ABCC6 is in 13 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
The primary skin lesions present in pseudoxanthoma elasticum are papules that often develop on the lateral aspect of the neck.
Sources: Expert listCreated: 17 Jun 2023, 6:13 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
autosomal recessive inherited pseudoxanthoma elasticum MONDO:0009925
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- autosomal recessive inherited pseudoxanthoma elasticum MONDO:0009925
- 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
Bryony Thompson (Royal Melbourne Hospital)Gene: abcc6 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: abcc6 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ABCC6 was added gene: ABCC6 was added to Facial papules. Sources: Expert list Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCC6 were set to 20301292 Phenotypes for gene: ABCC6 were set to autosomal recessive inherited pseudoxanthoma elasticum MONDO:0009925 Review for gene: ABCC6 was set to GREEN gene: ABCC6 was marked as current diagnostic