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| Defects of innate immunity v0.76 | PLEKHM1 | Bryony Thompson Classified gene: PLEKHM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of innate immunity v0.76 | PLEKHM1 | Bryony Thompson Gene: plekhm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of innate immunity v0.75 | PLEKHM1 | Bryony Thompson Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of innate immunity v0.75 | PLEKHM1 | Bryony Thompson edited their review of gene: PLEKHM1: Added comment: 2 unrelated cases with monoallelic variants and 2 unrelated cases with biallelic variants, with supporting animal models. The recessive form is the only form reported in the IUIS 2019 PID update.; Changed rating: GREEN; Changed publications: 17404618, 32048120, 17997709, 27291868, 27777970, 28290981; Changed phenotypes: Osteopetrosis, autosomal dominant 3 MIM#618107, Osteopetrosis, autosomal recessive 6 MIM#611497; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of innate immunity v0.45 | PLEKHM1 | Bryony Thompson Marked gene: PLEKHM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of innate immunity v0.45 | PLEKHM1 | Bryony Thompson Gene: plekhm1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of innate immunity v0.45 | PLEKHM1 |
Bryony Thompson gene: PLEKHM1 was added gene: PLEKHM1 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: PLEKHM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEKHM1 were set to 17404618; 32048120 Phenotypes for gene: PLEKHM1 were set to Osteopetrosis, autosomal recessive 6 MIM#611497 Review for gene: PLEKHM1 was set to RED Added comment: Currently only a single case reported with the recessive condition, which is is the only form reported in the IUIS 2019 PID update. Sources: Expert list |
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