Skeletal dysplasia
Gene: TYROBP
disorganized development of skeletal components gp of SD. bone cysts, green - 7 variants described 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
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: TYROBP; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 1:14 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: TYROBP
Source NHS GMS was added to TYROBP. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for TYROBP were set to Nasu-Hakola disease 221770
Mode of inheritance for TYROBP was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
TYROBP was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory
TYROBP was added to Unexplained skeletal dysplasiapanel. Sources:
TYROBP was created by sleigh