| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Osteopetrosis v0.83 | ADAMTSL2 | Zornitza Stark Marked gene: ADAMTSL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteopetrosis v0.83 | ADAMTSL2 | Zornitza Stark Gene: adamtsl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteopetrosis v0.83 | ADAMTSL2 | Zornitza Stark Classified gene: ADAMTSL2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteopetrosis v0.83 | ADAMTSL2 | Zornitza Stark Gene: adamtsl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteopetrosis v0.82 | ADAMTSL2 |
Zornitza Stark gene: ADAMTSL2 was added gene: ADAMTSL2 was added to Osteopetrosis. Sources: Literature Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTSL2 were set to 36896612 Phenotypes for gene: ADAMTSL2 were set to Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356) Review for gene: ADAMTSL2 was set to GREEN Added comment: 12 individuals reported with the severe end of the spectrum of ADAMTSL2-related skeletal dysplasia. The affected individuals presented with moderate intrauterine growth restriction, relative macrocephaly, hypertrichosis, large anterior fontanelle, short neck, short and stiff limbs with small hands and feet, severe brachydactyly, and generalized bone sclerosis with mild platyspondyly. Sources: Literature |
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