Skeletal dysplasia
Gene: TRPS1
Acromelic dysplasias gp of SD, green - multiple mutations; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Trichorhinophalangeal syndrome, type I 190350; Trichorhinophalangeal syndrome, type III 190351
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: TRPS1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 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
Added phenotypes Trichorhinophalangeal syndrome, type III 190351; Trichorhinophalangeal syndrome, type I 190350 for gene: TRPS1
Source NHS GMS was added to TRPS1. 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).
Phenotypes for TRPS1 were set to Trichorhinophalangeal syndrome, type I 190350; Trichorhinophalangeal syndrome, type III 190351
Mode of inheritance for TRPS1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
TRPS1 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
TRPS1 was created by sleigh
TRPS1 was added to Unexplained skeletal dysplasiapanel. Sources: