| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Epidermolysis bullosa v1.15 | SPINK5 | Bryony Thompson Marked gene: SPINK5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.15 | SPINK5 | Bryony Thompson Gene: spink5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.15 | SPINK5 | Bryony Thompson Mode of pathogenicity for gene: SPINK5 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.14 | SPINK5 | Bryony Thompson Classified gene: SPINK5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.14 | SPINK5 | Bryony Thompson Gene: spink5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.5 | SPINK5 |
Sangavi Sivagnanasundram gene: SPINK5 was added gene: SPINK5 was added to Epidermolysis bullosa. Sources: Other Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPINK5 were set to 19683336 Phenotypes for gene: SPINK5 were set to Netherton syndrome (MIM#256500) Mode of pathogenicity for gene: SPINK5 was set to Other Review for gene: SPINK5 was set to GREEN Added comment: Characterized by congenital erythroderma, a specific hair-shaft abnormality, and atopic manifestations with high IgE levels. Typically caused by either homozygous or compound heterozygous mutations. PMID: 19683336 9 unrelated children with Comel-Netherton syndrome with homozygous mutations in SPINK5. Sources: Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||