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| Schwannomatosis v0.2 | LZTR1 | Bryony Thompson Classified gene: LZTR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Schwannomatosis v0.2 | LZTR1 | Bryony Thompson Gene: lztr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Schwannomatosis v0.1 | LZTR1 |
Bryony Thompson gene: LZTR1 was added gene: LZTR1 was added to Schwannomatosis. Sources: Expert list Mode of inheritance for gene: LZTR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LZTR1 were set to 24362817 Phenotypes for gene: LZTR1 were set to {Schwannomatosis-2, susceptibility to} MIM#615670 Review for gene: LZTR1 was set to GREEN Added comment: A study identified 16 cases with 15 different germline heterozygous variants. The variants segregated with the disorder in all available affected first-degree relatives, although 4 asymptomatic parents also carried the mutation, indicating incomplete penetrance. Classified as tumour suppressor. Sources: Expert list |
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