Skeletal dysplasia
Gene: TMEM165
green - 4 mutations on HGMD; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type IIk 614727
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: TMEM165; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least four variants reportedCreated: 1 Aug 2016, 8:40 a.m.
Tier 2Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type IIk 614727
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Congenital disorder of glycosylation, type IIk 614727 for gene: TMEM165
Source NHS GMS was added to TMEM165. 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 TMEM165 were set to Congenital disorder of glycosylation, type IIk 614727
Mode of inheritance for TMEM165 was changed to BIALLELIC, autosomal or pseudoautosomal
TMEM165 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
TMEM165 was added to Unexplained skeletal dysplasiapanel. Sources:
TMEM165 was created by sleigh