Skeletal dysplasia
Gene: ADAMTSL2
severe short stature, acromelic dysplasias gp of SD. Green - many cases described; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Geleophysic dysplasia 1 231050
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: ADAMTSL2; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Numerous variants reported in this phenotypeCreated: 13 Jul 2016, 7:31 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:26 p.m.
Tier 1Created: 15 Jun 2016, 2:01 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Geleophysic dysplasia 1 231050
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Geleophysic dysplasia 1 231050 for gene: ADAMTSL2
Source NHS GMS was added to ADAMTSL2. 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).
This gene has been classified as Green List (High Evidence).
Phenotypes for ADAMTSL2 were set to Geleophysic dysplasia 1 231050
This gene has been classified as Green List (High Evidence).
ADAMTSL2 was added to Unexplained skeletal dysplasiapanel. Sources:
ADAMTSL2 was created by sleigh