Skeletal dysplasia
Gene: TREM2
disorganized development of skeletal components gp of SD, green - many recessive variants identified; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nasu-Hakola disease 221770
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: TREM2; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Numerous variants reported in this phenotype.Created: 12 Jul 2016, 2:21 p.m.
Tier 2Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nasu-Hakola disease 221770
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Nasu-Hakola disease 221770 for gene: TREM2
Source NHS GMS was added to TREM2. 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 TREM2 were set to Nasu-Hakola disease 221770
Mode of inheritance for TREM2 was changed to BIALLELIC, autosomal or pseudoautosomal
TREM2 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
TREM2 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory
TREM2 was added to Unexplained skeletal dysplasiapanel. Sources:
TREM2 was created by sleigh