| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v1.145 | LARP7 | Zornitza Stark Marked gene: LARP7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | LARP7 | Zornitza Stark Gene: larp7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | LARP7 | Zornitza Stark Classified gene: LARP7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | LARP7 | Zornitza Stark Gene: larp7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.144 | LARP7 |
Zornitza Stark gene: LARP7 was added gene: LARP7 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: LARP7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARP7 were set to 40129845; 37529055; 26607181; 26374271 Phenotypes for gene: LARP7 were set to microcephalic primordial dwarfism, Alazami type, MONDO:0014031 Review for gene: LARP7 was set to GREEN Added comment: Four individuals from different families reported with biallelic LARP7 variants associated with Alazami syndrome, a microcephalic primordial dwarfism disorder characterised by severe growth failure, profound intellectual disability and distinctive facial dysmorphism; functional studies demonstrate reduced LARP7 protein expression. Sources: Literature |
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