Palmoplantar keratodermas
Gene: JUPEnsemblGeneIds (GRCh38): ENSG00000173801
EnsemblGeneIds (GRCh37): ENSG00000173801
OMIM: 173325, Gene2Phenotype
JUP is in 11 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 6 Dec 2024, 12:38 p.m. | Last Modified: 6 Dec 2024, 12:38 p.m.
Panel Version: 3.27
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Pathogenic heterozygous germline variants in JUP are associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) without abnormalities of hair or skin. On the other hand, recessive variants are associated with Naxos disease which manifests a range of ectodermal features including palmoplantar keratoderma.
Therefore, the MOI should be changed from 'both mono- and biallelic' to 'biallelic' only at the next GMS panel update.Created: 10 Oct 2022, 11:24 a.m. | Last Modified: 10 Oct 2022, 11:24 a.m.
Panel Version: 1.21
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: JUP; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 28 Jan 2019, 10:47 a.m.
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Naxos disease, OMIM:601214
- Palmoplantar keratoderma, keratoderma with woolly hair
- OMIM
- 173325
- Clinvar variants
- Variants in JUP
- Penetrance
- None
- Panels with this gene
-
- Arrhythmogenic right ventricular cardiomyopathy
- Palmoplantar keratoderma and erythrokeratodermas
- Ichthyosis and erythrokeratoderma
- Palmoplantar keratodermas
- Hereditary neuropathy
- Epidermolysis bullosa and congenital skin fragility
- Hereditary neuropathy or pain disorder
- Dilated and arrhythmogenic cardiomyopathy
- Epidermolysis bullosa
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_22_MOI was removed from gene: JUP.
Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Mode of inheritance for gene JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: JUP were changed from Naxos disease; Desmosomal disorders to Naxos disease, OMIM:601214; Palmoplantar keratoderma, keratoderma with woolly hair
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_22_MOI tag was added to gene: JUP.
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to JUP.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: JUP was added gene: JUP was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: JUP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: JUP were set to Naxos disease; Desmosomal disorders