Palmoplantar Keratoderma and Erythrokeratoderma
Gene: JUPEnsemblGeneIds (GRCh38): ENSG00000173801
EnsemblGeneIds (GRCh37): ENSG00000173801
OMIM: 173325, Gene2Phenotype
JUP is in 14 panels
1 review
Naomi Baker (Victorian Clinical Genetics Services)
Palmoplantar Keratoderma reported as a phenotype associated with biallelic mutation in Naxos disease. Many individuals reported in the literature.Created: 12 Aug 2020, 7 a.m. | Last Modified: 12 Aug 2020, 7 a.m.
Panel Version: 0.8
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Naxos disease (MIM#601214)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Naxos disease (MIM#601214)
- OMIM
- 173325
- Clinvar variants
- Variants in JUP
- Penetrance
- None
- Publications
- Panels with this gene
-
- Epidermolysis bullosa
- Transplant Co-Morbidity Superpanel
- Desmosomal disorders
- Palmoplantar Keratoderma and Erythrokeratoderma
- Ectodermal Dysplasia
- Mackenzie's Mission_Reproductive Carrier Screening
- Arrhythmogenic Cardiomyopathy
- Hair disorders
- Additional findings_Paediatric
- Prepair 1000+
- Cardiomyopathy_Paediatric
- Mendeliome
- Dilated Cardiomyopathy
- BabyScreen+ newborn screening
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: jup has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: JUP were changed from to Naxos disease (MIM#601214)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: JUP were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: JUP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: JUP was added gene: JUP was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: JUP was set to Unknown