Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.7 | LARP7 | Zornitza Stark Marked gene: LARP7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.7 | LARP7 | Zornitza Stark Gene: larp7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.7 | LARP7 | Zornitza Stark Classified gene: LARP7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.7 | LARP7 | Zornitza Stark Gene: larp7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.6 | LARP7 |
Zornitza Stark gene: LARP7 was added gene: LARP7 was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review Mode of inheritance for gene: LARP7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARP7 were set to 22865833; 21937992; 30006060; 33569879 Phenotypes for gene: LARP7 were set to Alazami syndrome, MIM# 615071; Microcephalic primordial dwarfism, Alazami type MONDO:0014031 Review for gene: LARP7 was set to GREEN Added comment: Alazami syndrome is an autosomal recessive disorder characterized by severe growth restriction present at birth, severely impaired intellectual development, and distinctive facial features. Five unrelated families reported. Sources: Expert Review |