Skeletal dysplasia
Gene: OSTM1
Osteopetrosis and related disorders SD gp >3 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 5 259720
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: OSTM1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:50 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.
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteopetrosis, autosomal recessive 5 259720
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Osteopetrosis, autosomal recessive 5 259720 for gene: OSTM1
Source NHS GMS was added to OSTM1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Mode of inheritance for OSTM1 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for OSTM1 were set to Osteopetrosis, autosomal recessive 5 259720
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
OSTM1 was created by sleigh
OSTM1 was added to Unexplained skeletal dysplasiapanel. Sources: