Skeletal dysplasia
Gene: ZMPSTE24
restrictive dermopathy (RD) can include growth retardation, contractures, micrognathia, dysplastic clavicles. green - multiple cases for RD; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mandibuloacral dysplasia with type B lipodystrophy 608612; Restrictive dermopathy, lethal 275210
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: ZMPSTE24; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:53 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 1:16 p.m.
Tier 3Created: 17 Jun 2016, 8:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mandibuloacral dysplasia with type B lipodystrophy 608612; Restrictive dermopathy, lethal 275210
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Mandibuloacral dysplasia with type B lipodystrophy 608612; Restrictive dermopathy, lethal 275210 for gene: ZMPSTE24
Source NHS GMS was added to ZMPSTE24. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for ZMPSTE24 were set to Mandibuloacral dysplasia with type B lipodystrophy 608612; Restrictive dermopathy, lethal 275210
Mode of inheritance for ZMPSTE24 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
ZMPSTE24 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory
ZMPSTE24 was created by sleigh
ZMPSTE24 was added to Unexplained skeletal dysplasiapanel. Sources: