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| Epidermolysis bullosa and congenital skin fragility v1.7 | CAST |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Peeling skin HP:0040189;Leukonychia HP:0001820;OMIM:#616295;Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295;Punctate palmoplantar hyperkeratosis HP:0007530;Knuckle pads.;Cheilitis HP:0100825 |
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| Epidermolysis bullosa and congenital skin fragility v1.7 | CAST | Ivone Leong Phenotypes for gene: CAST were changed from Peeling skin HP:0040189; Leukonychia HP:0001820; OMIM:#616295; Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295; Punctate palmoplantar hyperkeratosis HP:0007530; Knuckle pads.; Cheilitis HP:0100825 to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, OMIM:616295 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v1.6 | CAST | Ivone Leong Publications for gene: CAST were set to PMID: 25683118 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.11 | SERPINB8 | Rebecca Foulger commented on gene: SERPINB8: Note from John McGrath (email correspondance): Several of the green genes – CAST, CDSN, CSTA, SERPINB8 are rather extending the definition of skin fragility into skin peeling. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.11 | CSTA | Rebecca Foulger commented on gene: CSTA: Note from John McGrath (email correspondance): Several of the green genes – CAST, CDSN, CSTA, SERPINB8 are rather extending the definition of skin fragility into skin peeling. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.11 | CDSN | Rebecca Foulger edited their review of gene: CDSN: Added comment: Note from John McGrath (email correspondance): Several of the green genes – CAST, CDSN, CSTA, SERPINB8 are rather extending the definition of skin fragility into skin peeling.; Changed phenotypes: Peeling skin syndrome 1, 270300, PSS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.11 | CAST | Rebecca Foulger commented on gene: CAST: Note from John McGrath (email correspondance): Several of the green genes – CAST, CDSN, CSTA, SERPINB8 are rather extending the definition of skin fragility into skin peeling. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.3 | CAST |
Ellen McDonagh gene: CAST was added gene: CAST was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: CAST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAST were set to PMID: 25683118 Phenotypes for gene: CAST were set to Peeling skin HP:0040189; Leukonychia HP:0001820; OMIM:#616295; Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295; Punctate palmoplantar hyperkeratosis HP:0007530; Knuckle pads.; Cheilitis HP:0100825 |
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