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| Epidermolysis bullosa v1.4 | SLC39A7 | Zornitza Stark Phenotypes for gene: SLC39A7 were changed from Absent B cells; Agammaglobulinemia; Early onset infections to Agammaglobulinaemia 9, autosomal recessive, MIM# 619693; Absent B cells; Agammaglobulinemia; Early onset infections | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.3 | SLC39A7 | Zornitza Stark reviewed gene: SLC39A7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 9, autosomal recessive, MIM# 619693, Antibody deficiency, early onset infections, blistering dermatosis, failure to thrive, thrombocytopaenia; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.25 | SLC39A7 | Zornitza Stark Marked gene: SLC39A7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.25 | SLC39A7 | Zornitza Stark Gene: slc39a7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.25 | SLC39A7 | Zornitza Stark Classified gene: SLC39A7 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.25 | SLC39A7 | Zornitza Stark Gene: slc39a7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.24 | SLC39A7 |
Paul De Fazio changed review comment from: 5 families with biallelic variants described in 1 publication. A mouse model recapitulated the phenotype. The two most severely affected individuals (siblings) additionally showed severe blistering dermatosis, failure to thrive and thrombocytopenia. Haematopoietic stem cell transplantation resulted in cure of immunologic abnormalities and amelioration of skin disease. Another patient had seborrheic dermatitis. Added to this list but rated red as only the one family out of five showed the relevant phenotype. Sources: Literature; to: 5 families with biallelic variants described in 1 publication. A mouse model recapitulated the phenotype. Phenoypes are mostly immunological but the two most severely affected individuals (siblings) additionally showed severe blistering dermatosis, failure to thrive and thrombocytopenia. Haematopoietic stem cell transplantation resulted in cure of immunologic abnormalities and amelioration of skin disease. Another patient had seborrheic dermatitis. Added to this list but rated red as only the one family out of five showed the relevant phenotype. Sources: Literature |
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| Epidermolysis bullosa v0.24 | SLC39A7 |
Paul De Fazio gene: SLC39A7 was added gene: SLC39A7 was added to Epidermolysis bullosa. Sources: Literature Mode of inheritance for gene: SLC39A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A7 were set to 30718914 Phenotypes for gene: SLC39A7 were set to Absent B cells; Agammaglobulinemia; Early onset infections Review for gene: SLC39A7 was set to RED gene: SLC39A7 was marked as current diagnostic Added comment: 5 families with biallelic variants described in 1 publication. A mouse model recapitulated the phenotype. The two most severely affected individuals (siblings) additionally showed severe blistering dermatosis, failure to thrive and thrombocytopenia. Haematopoietic stem cell transplantation resulted in cure of immunologic abnormalities and amelioration of skin disease. Another patient had seborrheic dermatitis. Added to this list but rated red as only the one family out of five showed the relevant phenotype. Sources: Literature |
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