| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mosaic skin disorders v1.9 | PORCN | Bryony Thompson Marked gene: PORCN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v1.9 | PORCN | Bryony Thompson Gene: porcn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v1.9 | PORCN | Bryony Thompson Classified gene: PORCN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v1.9 | PORCN | Bryony Thompson Added comment: Comment on list classification: Added from PanelApp UK mosaic skin disorders panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v1.9 | PORCN | Bryony Thompson Gene: porcn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v1.6 | PORCN |
Sangavi Sivagnanasundram gene: PORCN was added gene: PORCN was added to Mosaic skin disorders. Sources: NHS GMS Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PORCN were set to 17546030; 19309688 Phenotypes for gene: PORCN were set to Focal dermal hypoplasia (MONDO:0010592; MIM#305600) Mode of pathogenicity for gene: PORCN was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: PORCN was set to GREEN Added comment: Well established gene associated with Focal Dermal Hypoplasia (FDH). Predominantly reported in females (male lethality). PMID: 19309688 - 24 unrelated patients (21 female and 3 male) with focal dermal hypoplasia (FDH) were studied. A variety of variants (nonsense, splice site and missense) were identified while 3 cases with skewed X inactivation had microdeletions eliminating PORCN. The 3 male cases were shown to be a result of postzygotic mosaicism which was also identified in 2 female cases. PMID: 17546030 - 10 of 15 confirmed with FDH were analysed and heterozygous (missense, nonsense, indels) mutations causative of FDH was identified. In 9 cases, variants weren't detected in parental samples. A mildy affected father of 1 case showed somatic mosaicism for this variant while they identified de novo mosaic mutations in 3 male FDH cases but not in their parents. Sources: NHS GMS |
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