Skeletal dysplasia
Gene: TCIRG1
Osteopetrosis and related disorders SD gp - sveral cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteopetrosis, autosomal recessive 1 259700
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: TCIRG1; 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, 9:52 a.m.
Comment when marking as ready: Numerous variants reported in this phenotype.Created: 12 Jul 2016, 1:42 p.m.
Tier 1Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteopetrosis, autosomal recessive 1 259700
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Osteopetrosis, autosomal recessive 1 259700 for gene: TCIRG1
Source NHS GMS was added to TCIRG1. 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 TCIRG1 were set to Osteopetrosis, autosomal recessive 1 259700
Mode of inheritance for TCIRG1 was changed to BIALLELIC, autosomal or pseudoautosomal
TCIRG1 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
TCIRG1 was created by sleigh
TCIRG1 was added to Unexplained skeletal dysplasiapanel. Sources: