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| Facial papules v0.42 | MLH1 | Bryony Thompson Phenotypes for gene: MLH1 were changed from Lynch syndrome MONDO:0005835 to Lynch syndrome MONDO:0005835; Muir-Torre syndrome MONDO:0008018 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.39 | MLH1 | Bryony Thompson Marked gene: MLH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.39 | MLH1 | Bryony Thompson Gene: mlh1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.39 | MLH1 | Bryony Thompson Classified gene: MLH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.39 | MLH1 | Bryony Thompson Gene: mlh1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.38 | MLH1 |
Bryony Thompson gene: MLH1 was added gene: MLH1 was added to Facial papules. Sources: Expert list Mode of inheritance for gene: MLH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MLH1 were set to 20301390; 11231323; 14994245; 15235030; 8931714; 8751876; 9634524 Phenotypes for gene: MLH1 were set to Lynch syndrome MONDO:0005835 Review for gene: MLH1 was set to GREEN gene: MLH1 was marked as current diagnostic Added comment: The Lynch syndrome variant Muir-Torre syndrome includes sebaceous neoplasms of the skin (including the face) as a main feature of the condition. Sources: Expert list |
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