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| Monogenic short stature v2.9 | COL2A1 |
Melissa Connolly gene: COL2A1 was added gene: COL2A1 was added to Monogenic short stature. Sources: Expert Review Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL2A1 were set to PMID: 41543979 Phenotypes for gene: COL2A1 were set to EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS; KNIEST DYSPLASIA; SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE; SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE; SPONDYLOPERIPHERAL DYSPLASIA Penetrance for gene: COL2A1 were set to Complete Review for gene: COL2A1 was set to GREEN Added comment: Gene included in a list of the ten most prevalent genetic causes of isolated short stature (Supplementary information 4). Text references reports of isolated short stature. Sources: Expert Review |
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