AW report case with L203P. CSS not associated with LOF variants. ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.
Nail-patella syndrome - LOF
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: LMX1B; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.
Heterozygous loss of function causes nail patella syndrome. p.Leu203Phe may cause additional phenotypes through gain-of-function, but no independent reports
Created: 14 Sep 2015, 11:59 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Nail-patella syndrome - LOF for gene: LMX1B
Source NHS GMS was added to LMX1B.
This gene has been classified as Red List (Low Evidence).
LMX1B was added to Craniosynostosis syndromespanel. Sources: Expert list