Skeletal dysplasia
Gene: GORAB
OI and decreasing bone density gp of SD. Several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Geroderma osteodysplasticum 231070
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: GORAB; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:49 p.m.
Tier 1Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Geroderma osteodysplasticum 231070
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Geroderma osteodysplasticum 231070 for gene: GORAB
Source NHS GMS was added to GORAB. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for GORAB were set to Geroderma osteodysplasticum 231070
Mode of inheritance for GORAB was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
GORAB was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory
GORAB was created by sleigh
GORAB was added to Unexplained skeletal dysplasiapanel. Sources: