Skeletal dysplasia
Gene: OBSL1
Slender bone dysplasia 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
3-M syndrome 2 612921
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: OBSL1; 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, 1:01 p.m.
Tier 1Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
Unknown
Phenotypes
3-M syndrome 2 612921
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes 3-M syndrome 2 612921 for gene: OBSL1
Source NHS GMS was added to OBSL1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Mode of inheritance for OBSL1 was changed to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for OBSL1 was changed to Unknown
Phenotypes for OBSL1 were set to 3-M syndrome 2 612921
This gene has been classified as Green List (High Evidence).
OBSL1 was created by sleigh
OBSL1 was added to Unexplained skeletal dysplasiapanel. Sources: