| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Palmoplantar keratodermas v2.6 | DSC3 | Arina Puzriakova Tag Q2_22_MOI was removed from gene: DSC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v2.6 | DSC3 | Arina Puzriakova commented on gene: DSC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v2.5 | DSC3 | Arina Puzriakova Mode of inheritance for gene DSC3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v1.16 | DSC3 | Eleanor Williams Phenotypes for gene: DSC3 were changed from Desmosomal disorders; Palmoplantar keratoderma, woolly hair to Desmosomal disorders; Palmoplantar keratoderma, woolly hair; Hypotrichosis and recurrent skin vesicles, OMIM:613102; hereditary hypotrichosis with recurrent skin vesicles, MONDO:0013136 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v1.15 | DSC3 | Eleanor Williams Publications for gene: DSC3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v1.14 | DSC3 |
Eleanor Williams changed review comment from: In OMIM this gene is associated with Hypotrichosis and recurrent skin vesicles (OMIM:613102) with a autosomal recessive mode of inheritance. Two cases reported, both with homozygous variants in the affected individuals. PMID: 19765682 - Ayub et al 2009 - large consanguineous family from Afghanistan with 4 affected siblings with hypotrichosis and the appearance of recurrent skin vesicle formation. Sequence analysis following homozygosity mapping identified a homozygous nonsense mutation (c.2129T>G [p.Leu710X]) in DSC3. PMID: 31790667 - Onoufriadis et al 2020 - boy from consanguineous Egyptian family with skin blistering and hypotrichosis. A homozygous nonsense mutation in DSC3 (c.2180T>G; p.Leu727*) was identified. The parents and unaffected sister were heterozygous for this variant.; to: In OMIM this gene is associated with Hypotrichosis and recurrent skin vesicles (OMIM:613102) with a autosomal recessive mode of inheritance. Two cases reported, both with homozygous variants in the affected individuals. PMID: 19765682 - Ayub et al 2009 - large consanguineous family from Afghanistan with 4 affected siblings with hypotrichosis and the appearance of recurrent skin vesicle formation. Sequence analysis following homozygosity mapping identified a homozygous nonsense mutation (c.2129T>G [p.Leu710X]) in DSC3. PMID: 31790667 - Onoufriadis et al 2020 - boy from consanguineous Egyptian family with skin blistering and hypotrichosis. A homozygous nonsense mutation in DSC3 (c.2180T>G; p.Leu727*) was identified. The parents and unaffected sister were heterozygous for this variant. PMID: 18682494 - Chen et al 2008 - mouse model shows that loss of Dsc3 function in the epidermis causes impaired cell-cell adhesion, leading to intra-epidermal blistering and telogen hair loss. |
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| Palmoplantar keratodermas v1.14 | DSC3 | Eleanor Williams Added comment: Comment on mode of inheritance: Only cases with homozygous variants have been reported, therefore it is recommended that the mode of inheritance is changed to Biallelic only following GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v1.14 | DSC3 | Eleanor Williams Mode of inheritance for gene: DSC3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v1.13 | DSC3 | Eleanor Williams Tag Q2_22_MOI tag was added to gene: DSC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v1.13 | DSC3 | Eleanor Williams commented on gene: DSC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v0.5 | DSC3 | Rebecca Foulger Source London North GLH was added to DSC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v0.4 | DSC3 | Rebecca Foulger reviewed gene: DSC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratodermas v0.3 | DSC3 |
Rebecca Foulger gene: DSC3 was added gene: DSC3 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DSC3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DSC3 were set to Desmosomal disorders; Palmoplantar keratoderma, woolly hair |
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