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| Epidermolysis bullosa and congenital skin fragility v1.13 | CSTA | Ivone Leong Publications for gene: CSTA were set to 23534700; 26684698; 25400170; PMID: 21944047 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v1.12 | CSTA |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Hyperhidrosis HP:0000975;Peeling skin HP:0040189;OMIM:607936;erythema HP:0010783;Peeling skin syndrome 4, 607936;palmoplantar hyperkeratosis HP:0007530;Hyperkeratosis HP:0000962;Erythroderma HP:0001019;Lichenification HP:0100725;Ichthyosis HP:0008064;skin erosions HP:0200041 |
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| Epidermolysis bullosa and congenital skin fragility v1.12 | CSTA | Ivone Leong Phenotypes for gene: CSTA were changed from Hyperhidrosis HP:0000975; Peeling skin HP:0040189; OMIM:607936; erythema HP:0010783; Peeling skin syndrome 4, 607936; palmoplantar hyperkeratosis HP:0007530; Hyperkeratosis HP:0000962; Erythroderma HP:0001019; Lichenification HP:0100725; Ichthyosis HP:0008064; skin erosions HP:0200041 to Peeling skin syndrome 4, OMIM:607936 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | CSTA |
Ellen McDonagh gene: CSTA was added gene: CSTA was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSTA were set to 23534700; 26684698; 25400170; PMID: 21944047 Phenotypes for gene: CSTA were set to Hyperhidrosis HP:0000975; Peeling skin HP:0040189; OMIM:607936; erythema HP:0010783; Peeling skin syndrome 4, 607936; palmoplantar hyperkeratosis HP:0007530; Hyperkeratosis HP:0000962; Erythroderma HP:0001019; Lichenification HP:0100725; Ichthyosis HP:0008064; skin erosions HP:0200041 |
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