Skeletal dysplasia
Gene: LMX1B
Patellar dysostoses gp of SD >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Nail-patella syndrome 161200
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; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 27 Jul 2016, 9:44 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:36 a.m.
Tier 2Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Nail-patella syndrome 161200
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Nail-patella syndrome 161200 for gene: LMX1B
Source NHS GMS was added to LMX1B. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
LMX1B was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for LMX1B were set to Nail-patella syndrome 161200
Mode of inheritance for LMX1B was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
LMX1B was created by sleigh
LMX1B was added to Unexplained skeletal dysplasiapanel. Sources: