Skeletal dysplasia
Gene: UFSP2

UFSP2 (UFM1 specific peptidase 2)
EnsemblGeneIds (GRCh38): ENSG00000109775
EnsemblGeneIds (GRCh37): ENSG00000109775
OMIM: 611482, Gene2Phenotype
UFSP2 is in 5 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Created: 4 May 2021, 1:43 p.m.
Last Modified: 4 May 2021, 2:01 p.m.
Panel version: 2.94

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Multiple epiphyseal dysplasia & psudoachondroplasia gp of SD. Single case reported for each of the two phenotypes.; Review on behalf of Tracy Lester/Michael Oldridge
Created: 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

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

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: amber
Created: 6 Mar 2019, 11:37 a.m.

Created: 6 Mar 2019, 11:37 a.m.

Panel version: 2.184

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

?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

OMIM

611482

Clinvar variants

Variants in UFSP2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

6 Mar 2022, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating was removed from gene: UFSP2.

6 Mar 2022, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to UFSP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

4 May 2021, Gel status: 2