Rare syndromic craniosynostosis or isolated multisuture synostosis
Region: ISCA-37441-Loss11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss
The required percent of overlap for this region has been changed from 80% to 60% following NHS Genomic Medicine Service approval.Created: 16 Mar 2022, 1:38 p.m. | Last Modified: 16 Mar 2022, 1:38 p.m.
Panel Version: 2.67
This region was part of an initial gene 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: 11p11.2del (ISCA-37441-Loss); Suggested initial rating: greenCreated: 6 Mar 2019, 1:37 p.m.
Review on behalf of Tracy Lester and Andrew Wilkie: Rating: green. Comment: craniofacial abnormalities include PF, brachycephaly/turricephaly, Saethre-Chotzen like.Created: 6 Mar 2019, 1:04 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
Required Overlap Percentage for ISCA-37441-Loss was changed from 80 to 60.
Source NHS GMS was added to Region: ISCA-37441-Loss.
Region: ISCA-37441-Loss was added Region: ISCA-37441-Loss was added to Craniosynostosis syndromes phenotypes. 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