Skeletal dysplasia
Gene: UFSP2
Comment on phenotypes: A biallelic variant rs142500730 has been associated with pediatric neurodevelopmental anomalies and epilepsy (PMID 33473208).Created: 4 May 2021, 1:48 p.m. | Last Modified: 4 May 2021, 1:48 p.m.
Panel Version: 2.96
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 4 May 2021, 1:44 p.m. | Last Modified: 4 May 2021, 1:44 p.m.
Panel Version: 2.95
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in unrelated cases with skeletal dysplasia (OMIM:142669 & OMIM:617974), within the UFSP2 C-terminal C78 peptidase domain, which is required for its catalytic activity. Supportive functional studies presented for one of the variants (PMID 26428751) .Created: 4 May 2021, 1:43 p.m. | Last Modified: 4 May 2021, 2:01 p.m.
Panel Version: 2.97
Multiple epiphyseal dysplasia & psudoachondroplasia gp of SD. Single case reported for each of the two phenotypes.; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Beukes Hip Dysplasia 142669, Spondyloepimetaphyseal dysplasia, Di Rocco type 617974
Publications
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 6 Mar 2022, 6:30 p.m. | Last Modified: 6 Mar 2022, 6:30 p.m.
Panel Version: 2.184
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: UFSP2; Initial rating suggestion: amberCreated: 6 Mar 2019, 11:37 a.m.
Tag Q2_21_rating was removed from gene: UFSP2.
Source Expert Review Green was added to UFSP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: UFSP2 were set to 28892125; 26428751; 32755715
Phenotypes for gene: UFSP2 were changed from ?Beukes Hip Dysplasia OMIM:142669; hip dysplasia, Beukes type MONDO:0007726; ?Spondyloepimetaphyseal dysplasia, Di Rocco type OMIM:617974; spondyloepimetaphyseal dysplasia, di rocco type MONDO:0060702 to ?Beukes Hip Dysplasia OMIM:142669; hip dysplasia, Beukes type MONDO:0007726; ?Spondyloepimetaphyseal dysplasia, Di Rocco type OMIM:617974; spondyloepimetaphyseal dysplasia, di rocco type MONDO:0060702
Gene: ufsp2 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: UFSP2.
Mode of inheritance for gene: UFSP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: UFSP2 were changed from Beukes Hip Dysplasia 142669, Spondyloepimetaphyseal dysplasia, Di Rocco type 617974 to ?Beukes Hip Dysplasia OMIM:142669; hip dysplasia, Beukes type MONDO:0007726; ?Spondyloepimetaphyseal dysplasia, Di Rocco type OMIM:617974; spondyloepimetaphyseal dysplasia, di rocco type MONDO:0060702
Publications for gene: UFSP2 were set to 28892125; 26428751
Added phenotypes Beukes Hip Dysplasia 142669, Spondyloepimetaphyseal dysplasia, Di Rocco type 617974 for gene: UFSP2 Publications for gene UFSP2 were changed from to 28892125; 26428751
gene: UFSP2 was added gene: UFSP2 was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: UFSP2 was set to