GMS Musculoskeletal specialist test group Skeletal dysplasia
Region: ISCA-37441-Loss11p11.2 (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
Sources: Expert listCreated: 6 Mar 2019, 2:06 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
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
Publications
Triplosensitivity Score for ISCA-37441-Loss was changed from None to . Source NHS GMS was added to Region: ISCA-37441-Loss.
GRCh38 position for ISCA-37441-Loss was changed from 43873246-46130899 to 43873250-46130899.
Region: ISCA-37441-Loss was added Region: ISCA-37441-Loss was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: Expert list 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