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| Ectodermal Dysplasia v0.45 | MBTPS2 | Bryony Thompson Marked gene: MBTPS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.45 | MBTPS2 | Bryony Thompson Gene: mbtps2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.45 | MBTPS2 | Bryony Thompson Classified gene: MBTPS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.45 | MBTPS2 | Bryony Thompson Gene: mbtps2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.44 | MBTPS2 |
Bryony Thompson gene: MBTPS2 was added gene: MBTPS2 was added to Ectodermal Dysplasia. Sources: NHS GMS Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: MBTPS2 were set to 19361614; 22105905; 24313295 Phenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome MIM#308205 Review for gene: MBTPS2 was set to GREEN Added comment: >3 families reported with ectodermal dysplasia as a feature of the condition, however there is phenotype variability and intra-familial phenotype variability. Ectodermal dysplasia is a feature of BRESHECK syndrome Sources: NHS GMS |
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