Activity
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| Palmoplantar keratodermas v3.27 | JUP | Achchuthan Shanmugasundram Tag Q4_22_MOI was removed from gene: JUP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v3.27 | JUP | Achchuthan Shanmugasundram reviewed gene: JUP: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v3.26 | JUP | Achchuthan Shanmugasundram Mode of inheritance for gene JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v1.21 | JUP |
Arina Puzriakova Added comment: 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. |
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| Palmoplantar keratodermas v1.21 | JUP | Arina Puzriakova Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v1.20 | JUP | Arina Puzriakova Phenotypes for gene: JUP were changed from Naxos disease; Desmosomal disorders to Naxos disease, OMIM:601214; Palmoplantar keratoderma, keratoderma with woolly hair | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v1.19 | JUP | Arina Puzriakova Tag Q4_22_MOI tag was added to gene: JUP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v0.5 | JUP | Rebecca Foulger Source London North GLH was added to JUP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v0.4 | JUP | Rebecca Foulger reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v0.3 | JUP |
Rebecca Foulger 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 |
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