Skeletal dysplasia
Gene: EOGT
Brachydactylies (with extraskeletal manifestations) gp of SD. At least 3 families reported.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adams Oliver syndrome 4
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: EOGT; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least variants reportedCreated: 28 Jul 2016, 10:55 a.m.
Tier 2Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adams-Oliver syndrome 4 615297
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Adams Oliver syndrome 4 for gene: EOGT
Source NHS GMS was added to EOGT. 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).
Mode of inheritance for EOGT was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
EOGT was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,UKGTN
EOGT was created by sleigh
EOGT was added to Unexplained skeletal dysplasiapanel. Sources: