Skeletal dysplasiaRegion: ISCA-37441-Loss
11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss
This region was part of an initial list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Region submitted: ISCA-37441-Loss; Initial rating suggestion: none given
Created: 6 Mar 2019, 1:54 p.m.
Source NHS GMS was added to Region: ISCA-37441-Loss.
Region: ISCA-37441-Loss was added Region: ISCA-37441-Loss was added to Unexplained skeletal dysplasia. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37441-Loss were set to 15852040; 16319823; 20140962 Phenotypes for Region: ISCA-37441-Loss were set to Potocki-Shaffer syndrome; multiple exostoses; biparietal foramina; intellectual disability; strabismus; minor craniofacial anomalies; myopia; ophthalmologic anomalies; 601224; mental retardation; enlarged anterior fontanel; genital abnormalities in males; parietal foramina; developmental delay