Limb disorders
Gene: LMX1B
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
Ana Beleza: Tier 2
Phenotypes for gene: LMX1B were changed from Nail-patella syndrome to Nail-patella syndrome 161200
Expert Review Green was added to LMX1B. Panel: Limb disorders UKGTN was added to LMX1B. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to LMX1B. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to LMX1B. Panel: Limb disorders Expert list was added to LMX1B. Panel: Limb disorders Model of inheritance for gene LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
London South East RGC GSTT was added to LMX1B. Panel: Limb disorders
LMX1B was added to Limb disorders panel. Sources: Viapath
LMX1B was created by Ellen McDonagh