| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v1.126 | COPB2 | Zornitza Stark Marked gene: COPB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.126 | COPB2 | Zornitza Stark Gene: copb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.126 | COPB2 | Zornitza Stark Classified gene: COPB2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.126 | COPB2 | Zornitza Stark Gene: copb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.125 | COPB2 |
Zornitza Stark gene: COPB2 was added gene: COPB2 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: COPB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COPB2 were set to 34450031 Phenotypes for gene: COPB2 were set to Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884 Review for gene: COPB2 was set to GREEN Added comment: PMID 34450031 reports four unrelated heterozygous loss-of-function variants across four families causing early‑onset osteoporosis, fractures and developmental delay (Monoallelic). Additionally, two siblings homozygous for a missense variant in a fifth family present with microcephaly, severe developmental delay and low bone mass (Biallelic). Sources: Literature |
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