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| Mendeliome v0.11132 | NFE2L1 | Bryony Thompson Marked gene: NFE2L1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11132 | NFE2L1 | Bryony Thompson Gene: nfe2l1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11132 | NFE2L1 |
Bryony Thompson gene: NFE2L1 was added gene: NFE2L1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: NFE2L1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NFE2L1 were set to 35112409 Phenotypes for gene: NFE2L1 were set to Syndromic disease, MONDO:0002254 Review for gene: NFE2L1 was set to RED Added comment: A single patient with developmental delay, hypotonia, hypospadias, bifid scrotum, and failure to thrive, with a heterozygous nonsense variant in the last exon. In vitro functional assays suggest a dominant-negative effect. Sources: Literature |
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