2 published cases with CSS as documented in Twigg&Wilkie AJHG 15 ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ectopia lentis -225200/225100
This gene 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; Gene symbol submitted: ADAMTSL4; Suggested initial gene rating: amber
Created: 5 Mar 2019, 11:21 a.m.
Publications for gene: ADAMTSL4 were set to
Added phenotypes Ectopia lentis 225200/225100 for gene: ADAMTSL4
Source NHS GMS was added to ADAMTSL4.
This gene has been classified as Red List (Low Evidence).
ADAMTSL4 was added to Craniosynostosis syndromespanel. Sources: Expert list