Limb disorders
Gene: TRPS1Comment on mode of inheritance: Changed to imprinted status unknown as reviewer had selected this.Created: 4 Dec 2018, 11:47 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:53 a.m.
Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.Created: 12 Jul 2016, 2:23 p.m.
Tier 1Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Trichorhinophalangeal syndrome, type I 190350; Trichorhinophalangeal syndrome, type III 190351
Variants in this GENE are reported as part of current diagnostic practice
Ana Beleza: Tier 1
Mode of inheritance for gene: TRPS1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Expert Review Green was added to TRPS1. Panel: Limb disorders UKGTN was added to TRPS1. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to TRPS1. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to TRPS1. Panel: Limb disorders Expert list was added to TRPS1. Panel: Limb disorders Emory Genetics Laboratory was added to TRPS1. Panel: Limb disorders Model of inheritance for gene TRPS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
London South East RGC GSTT was added to TRPS1. Panel: Limb disorders
TRPS1 was added to Limb disorders panel. Sources: Viapath
TRPS1 was created by Ellen McDonagh