| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mosaic skin disorders v1.6 | CSPP1 | Bryony Thompson Marked gene: CSPP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v1.6 | CSPP1 | Bryony Thompson Gene: cspp1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v1.5 | CSPP1 | Bryony Thompson Classified gene: CSPP1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v1.5 | CSPP1 | Bryony Thompson Gene: cspp1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v1.1 | CSPP1 |
Sangavi Sivagnanasundram gene: CSPP1 was added gene: CSPP1 was added to Mosaic skin disorders. Sources: Other Mode of inheritance for gene: CSPP1 was set to Unknown Publications for gene: CSPP1 were set to https://doi.org/10.1016/S2096-6911(21)00044-3 Phenotypes for gene: CSPP1 were set to Inflammatory linear verrucous epidermal naevus (ILVEN) Mode of pathogenicity for gene: CSPP1 was set to Other Review for gene: CSPP1 was set to RED Added comment: Only one Chinese journal published relating to ILVEN - not on pubmed 1 somatic heterozygous mutation (R698X) was identified in a 10yr old individual. Sources: Other |
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