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Skeletal dysplasia

Gene: UFSP2

Amber List (moderate evidence)

UFSP2 (UFM1 specific peptidase 2)
EnsemblGeneIds (GRCh38): ENSG00000109775
EnsemblGeneIds (GRCh37): ENSG00000109775
OMIM: 611482, Gene2Phenotype
UFSP2 is in 3 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

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

Eleanor Williams (Genomics England Curator)

I don't know

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • 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
Tags
Q2_21_rating
OMIM
611482
Clinvar variants
Variants in UFSP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: UFSP2 were set to 28892125; 26428751; 32755715

4 May 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

4 May 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ufsp2 has been classified as Amber List (Moderate Evidence).

4 May 2021, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: UFSP2.

4 May 2021, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: UFSP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

4 May 2021, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

4 May 2021, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: UFSP2 were set to 28892125; 26428751

6 May 2019, Gel status: 1

Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

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

6 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: UFSP2 was added gene: UFSP2 was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: UFSP2 was set to