Skeletal dysplasia
Gene: EXT2
disorganized development of skeletal components gp of SD; many cases reported; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Exostoses, multiple, type 2 133701
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: EXT2; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Biallelic EXT2 variants are also reported in Seizures, scoliosis, and macrocephaly syndrome, OMIM:616682. Table 2 in PMID: 30997052 highlights the phenotypic features of OMIM:616682. Scoliosis, which is relevant to this panel, is seen in 2/4 families reviewed in PMID: 30997052. If scoliosis is observed in more cases of OMIM:616682, then it would be appropriate to change the mode of inheritance of EXT2 to BOTH monoallelic and biallelic. The Watchlist_moi tag has been added to this gene to reflect this situation.Created: 14 Mar 2023, 3:54 p.m. | Last Modified: 14 Mar 2023, 3:56 p.m.
Panel Version: 3.13
Comment on phenotypes: EXT2 variants are also reported in: Seizures, scoliosis, and macrocephaly syndrome, OMIM:616682Created: 14 Mar 2023, 3:45 p.m. | Last Modified: 14 Mar 2023, 3:45 p.m.
Panel Version: 3.12
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:35 a.m.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 11 Jul 2016, 1:56 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tier 1Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Exostoses, multiple, type 2 133701
Variants in this GENE are reported as part of current diagnostic practice
Tag watchlist_moi tag was added to gene: EXT2.
Phenotypes for gene: EXT2 were changed from Exostoses, multiple, type 2 133701 to Exostoses, multiple, type 2, OMIM:133701
Phenotypes for gene: EXT2 were changed from Exostoses, multiple, type 2 133701 to Exostoses, multiple, type 2 133701
Added phenotypes Exostoses, multiple, type 2 133701 for gene: EXT2
Source NHS GMS was added to EXT2. 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).
Phenotypes for EXT2 were set to Exostoses, multiple, type 2 133701
Mode of inheritance for EXT2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for EXT2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
EXT2 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
This gene has been classified as Green List (High Evidence).
EXT2 was added to Unexplained skeletal dysplasiapanel. Sources:
EXT2 was created by sleigh